Name

GEO Signatures of Differentially Expressed Genes for Kinase Perturbations Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following kinase perturbation (inhibition, activation, knockdown, knockout, over-expression, mutation)

LINCS Kinativ Kinase Inhibitor Bioactivity Profiles Dataset

From LINCS Kinativ

Percent inhibition of kinases by small molecules measured in cell lysates

LINCS KinomeScan Kinase Inhibitor Targets Dataset

From LINCS KinomeScan

Kinase inhibitor targets from percent inhibition of kinases by small molecules measured using purified kinases

Kinase Library Serine Threonine Kinome Atlas Dataset

From Kinase Library

A phosphoproteomics atlas detailing phosphorylation of protein substrates by 303 serine/threonine kinases in the human kinome.

Kinase Library Tyrosine Kinome Atlas Dataset

From Kinase Library

A phosphoproteomics atlas detailing phosphorylation of protein substrates by 93 canonical and non-canonical tyrosine kinases in the human kinome.

BioGPS Human Cell Type and Tissue Gene Expression Profiles Dataset

From BioGPS

mRNA expression profiles for human tissues and cell types

BioGPS Mouse Cell Type and Tissue Gene Expression Profiles Dataset

From BioGPS

mRNA expression profiles for mouse tissues and cell types

ESCAPE Omics Signatures of Genes and Proteins for Stem Cells Dataset

From ESCAPE

Sets of target genes of transcription factors from published ChIP-chip, ChIP-seq, and other transcription factor binding site profiling studies;sets of differentially expressed genes following perturbation of a protein from gene expression data in GEO; sets of interacting proteins from high- and low-throughput protein-protein interaction studies; sets of targets of microRNAs from public databases, computationally predicted or experimentally verified

HPM Cell Type and Tissue Protein Expression Profiles Dataset

From Human Proteome Map

Protein expression profiles for tissues and cell types

ProteomicsDB Cell Type and Tissue Protein Expression Profiles Dataset

From Proteomics Database

Protein expression profiles for tissues and cell types reprocessed from many proteomics datasets

Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles Dataset

From Roadmap Epigenomics

DNA methylation profiles for primary cell types and tissues

Roadmap Epigenomics Cell and Tissue Gene Expression Profiles Dataset

From Roadmap Epigenomics

mRNA expression profiles for primary cell types and tissues

Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles Dataset

From Allen Brain Atlas

mRNA expression profiles for dementia and traumatic brain injuries (TBI) from aging brain tissue

dbGAP Gene-Trait Associations Dataset

From Database of Genotypes and Phenotypes

Gene-trait associations curated from genetic association studies

KEA Substrates of Kinases Dataset

From Kinase Enrichment Analysis

Protein substrates of kinases from published low-throughput and high-throughput phosphoproteomics studies

KEGG Pathways Dataset (Archived)

From Kyoto Encyclopedia of Genes and Genomes

Sets of proteins participating in pathways from KEGG

KEGG Pathways 2026 Dataset

From Kyoto Encyclopedia of Genes and Genomes

Sets of proteins participating in pathways from KEGG

IP6K3 Gene

inositol hexakisphosphate kinase 3

This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

IP6K2 Gene

inositol hexakisphosphate kinase 2

This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

IP6K1 Gene

inositol hexakisphosphate kinase 1

This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]

MAP4K1 Gene

mitogen-activated protein kinase kinase kinase kinase 1

Enables ATP binding activity and MAP kinase kinase kinase kinase activity. Involved in several processes, including JNK cascade; cellular response to phorbol 13-acetate 12-myristate; and protein phosphorylation. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

MAP4K3 Gene

mitogen-activated protein kinase kinase kinase kinase 3

This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MAP4K2 Gene

mitogen-activated protein kinase kinase kinase kinase 2

The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

MAP4K5 Gene

mitogen-activated protein kinase kinase kinase kinase 5

This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

MAP4K4 Gene

mitogen-activated protein kinase kinase kinase kinase 4

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ITPKA Gene

inositol-trisphosphate 3-kinase A

Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]

ITPKC Gene

inositol-trisphosphate 3-kinase C

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]

ITPKB Gene

inositol-trisphosphate 3-kinase B

The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]

ITPK1 Gene

inositol-tetrakisphosphate 1-kinase

This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]

LOC100421108 Gene

inositol 1,3,4-triphosphate 5/6 kinase pseudogene

LOC400927 Gene

TPTE and PTEN homologous inositol lipid phosphatase pseudogene

MAP3K10 Gene

mitogen-activated protein kinase kinase kinase 10

The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]

MAP3K13 Gene

mitogen-activated protein kinase kinase kinase 13

The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]

MAP3K19 Gene

mitogen-activated protein kinase kinase kinase 19

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in MAPK cascade. [provided by Alliance of Genome Resources, Mar 2025]

MAP3K11 Gene

mitogen-activated protein kinase kinase kinase 11

The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]

MAP3K12 Gene

mitogen-activated protein kinase kinase kinase 12

This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]

MAP3K15 Gene

mitogen-activated protein kinase kinase kinase 15

The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010]

MAP3K8 Gene

mitogen-activated protein kinase kinase kinase 8

This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

MAP3K9 Gene

mitogen-activated protein kinase kinase kinase 9

Enables molecular function activator activity and protein serine/threonine kinase activity. Involved in protein autophosphorylation. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MAP3K2 Gene

mitogen-activated protein kinase kinase kinase 2

The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008]

MAP3K3 Gene

mitogen-activated protein kinase kinase kinase 3

This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

MAP3K1 Gene

mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase

The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]

MAP3K7 Gene

mitogen-activated protein kinase kinase kinase 7

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

MAP3K4 Gene

mitogen-activated protein kinase kinase kinase 4

The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 2014]

MAP3K5 Gene

mitogen-activated protein kinase kinase kinase 5

Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]

MAP3K6 Gene

mitogen-activated protein kinase kinase kinase 6

This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MAP3K14 Gene

mitogen-activated protein kinase kinase kinase 14

This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]

MAP3K20 Gene

mitogen-activated protein kinase kinase kinase 20

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

MAP3K21 Gene

mitogen-activated protein kinase kinase kinase 21

Predicted to enable JUN kinase kinase kinase activity and protein homodimerization activity. Predicted to be involved in protein autophosphorylation and signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

INPP4A Gene

inositol polyphosphate-4-phosphatase, type I, 107kDa

This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]

ISYNA1 Gene

inositol-3-phosphate synthase 1

This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]

CDIPT Gene

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

IPMK Gene

inositol polyphosphate multikinase

This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]

INPP1 Gene

inositol polyphosphate-1-phosphatase

This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]

IMPAD1 Gene

inositol monophosphatase domain containing 1

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

INPP4B Gene

inositol polyphosphate-4-phosphatase, type II, 105kDa

INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]

IMPA1P Gene

inositol(myo)-1(or 4)-monophosphatase 1 pseudogene

LOC100421537 Gene

inositol monophosphatase domain containing 1 pseudogene

LOC729654 Gene

inositol polyphosphate multikinase pseudogene

SLC5A3 Gene

solute carrier family 5 (sodium/myo-inositol cotransporter), member 3

Enables myo-inositol:sodium symporter activity; potassium channel regulator activity; and transmembrane transporter binding activity. Predicted to be involved in several processes, including inositol metabolic process; monosaccharide transmembrane transport; and myo-inositol import across plasma membrane. Predicted to act upstream of or within several processes, including positive regulation of protein localization to membrane; positive regulation of reactive oxygen species biosynthetic process; and regulation of respiratory gaseous exchange. Located in perinuclear region of cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

INPP5A Gene

inositol polyphosphate-5-phosphatase, 40kDa

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]

INPP5B Gene

inositol polyphosphate-5-phosphatase, 75kDa

This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]

INPP5D Gene

inositol polyphosphate-5-phosphatase, 145kDa

This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Deficiencies in the encoded protein, SHIP1, have been associated with Inflammatory Bowel Disease types such as Crohn's Disease and Ulcerative Colitis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]

INPP5E Gene

inositol polyphosphate-5-phosphatase, 72 kDa

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

INPP5F Gene

inositol polyphosphate-5-phosphatase F

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

INPP5J Gene

inositol polyphosphate-5-phosphatase J

Predicted to enable inositol trisphosphate phosphatase activity; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity; and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Predicted to be involved in negative regulation of microtubule polymerization. Predicted to act upstream of or within negative regulation of neuron projection development and negative regulation of peptidyl-serine phosphorylation. Located in cytoplasm and ruffle. [provided by Alliance of Genome Resources, Mar 2025]

INPP5K Gene

inositol polyphosphate-5-phosphatase K

This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

ITPRIPL2 Gene

inositol 1,4,5-trisphosphate receptor interacting protein-like 2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ITPRIPL1 Gene

inositol 1,4,5-trisphosphate receptor interacting protein-like 1

Enables receptor ligand activity. Involved in negative regulation of T cell receptor signaling pathway. Located in membrane. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MINPP1 Gene

multiple inositol-polyphosphate phosphatase 1

This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]

SLC5A11 Gene

solute carrier family 5 (sodium/inositol cotransporter), member 11

Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]

LOC645433 Gene

inositol-3-phosphate synthase 1 pseudogene

MIOXP1 Gene

myo-inositol oxygenase pseudogene 1

IPMKP1 Gene

inositol polyphosphate multikinase pseudogene 1

IMPA1 Gene

inositol(myo)-1(or 4)-monophosphatase 1

This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]

IMPA2 Gene

inositol(myo)-1(or 4)-monophosphatase 2

This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011]

INPPL1 Gene

inositol polyphosphate phosphatase-like 1

The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]

ITPR2 Gene

inositol 1,4,5-trisphosphate receptor, type 2

The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]

ITPR3 Gene

inositol 1,4,5-trisphosphate receptor, type 3

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]

ITPR1 Gene

inositol 1,4,5-trisphosphate receptor, type 1

This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

ITPRIP Gene

inositol 1,4,5-trisphosphate receptor interacting protein

This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

MIOX Gene

myo-inositol oxygenase

Enables ferric iron binding activity and inositol oxygenase activity. Involved in inositol catabolic process. Predicted to be located in cytoplasm and inclusion body. [provided by Alliance of Genome Resources, Mar 2025]

IRAG2 Gene

inositol 1,4,5-triphosphate receptor associated 2

The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

IRAG1 Gene

inositol 1,4,5-triphosphate receptor associated 1

This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011]

NUCKS1 Gene

nuclear casein kinase and cyclin-dependent kinase substrate 1

This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]

PACSIN1 Gene

protein kinase C and casein kinase substrate in neurons 1

Enables phospholipid binding activity. Involved in plasma membrane tubulation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PACSIN3 Gene

protein kinase C and casein kinase substrate in neurons 3

This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PACSIN2 Gene

protein kinase C and casein kinase substrate in neurons 2

This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

CAMKK2 Gene

calcium/calmodulin-dependent protein kinase kinase 2, beta

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]

CAMKK1 Gene

calcium/calmodulin-dependent protein kinase kinase 1, alpha

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

MKNK2 Gene

MAP kinase interacting serine/threonine kinase 2

This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011]

MKNK1 Gene

MAP kinase interacting serine/threonine kinase 1

This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012]

MAPKAPK5 Gene

mitogen-activated protein kinase-activated protein kinase 5

The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]

MAPKAPK3 Gene

mitogen-activated protein kinase-activated protein kinase 3

This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

MAPKAPK2 Gene

mitogen-activated protein kinase-activated protein kinase 2

This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100996792 Gene

dual specificity mitogen-activated protein kinase kinase 3

SMG1 Gene

SMG1 phosphatidylinositol 3-kinase-related kinase

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

MAP2K4P1 Gene

mitogen-activated protein kinase kinase 4 pseudogene 1

MAP2K3 Gene

mitogen-activated protein kinase kinase 3

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]

MAP2K2 Gene

mitogen-activated protein kinase kinase 2

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]

MAP2K1 Gene

mitogen-activated protein kinase kinase 1

The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]

MAP2K7 Gene

mitogen-activated protein kinase kinase 7

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MAP2K6 Gene

mitogen-activated protein kinase kinase 6

This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]

MAP2K5 Gene

mitogen-activated protein kinase kinase 5

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]

MAP2K4 Gene

mitogen-activated protein kinase kinase 4

This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

MKNK2P1 Gene

MAP kinase interacting serine/threonine kinase 2 pseudogene 1

LOC100422438 Gene

mitogen-activated protein kinase-activated protein kinase 2 pseudogene

MAPKAPK5P1 Gene

mitogen-activated protein kinase-activated protein kinase 5 pseudogene 1

LOC100422558 Gene

SMG1 phosphatidylinositol 3-kinase-related kinase pseudogene

DTYMK Gene

deoxythymidylate kinase (thymidylate kinase)

Enables ATP binding activity and thymidylate kinase activity. Involved in dTDP biosynthetic process and thymidine biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CDKL1 Gene

cyclin-dependent kinase-like 1 (CDC2-related kinase)

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018]

CDKL2 Gene

cyclin-dependent kinase-like 2 (CDC2-related kinase)

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]

MAP2K1P1 Gene

mitogen-activated protein kinase kinase 1 pseudogene 1

LOC407835 Gene

mitogen-activated protein kinase kinase 2 pseudogene

ZAK Gene

sterile alpha motif and leucine zipper containing kinase AZK

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LOC101060637 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

LOC100130466 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

JAKMIP3 Gene

Janus kinase and microtubule interacting protein 3

Predicted to enable kinase binding activity and microtubule binding activity. Predicted to be located in Golgi apparatus and membrane. [provided by Alliance of Genome Resources, Mar 2025]

JAKMIP2 Gene

janus kinase and microtubule interacting protein 2

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

JAKMIP1 Gene

janus kinase and microtubule interacting protein 1

Enables GABA receptor binding activity and RNA binding activity. Involved in cognition. Located in membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

PKLR Gene

pyruvate kinase, liver and RBC

The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NAMA Gene

non-protein coding RNA, associated with MAP kinase pathway and growth arrest

TIE1 Gene

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

ANKK1 Gene

ankyrin repeat and kinase domain containing 1

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]

DSTYK Gene

dual serine/threonine and tyrosine protein kinase

This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

SRMS Gene

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

Enables protein tyrosine kinase activity. Involved in peptidyl-tyrosine autophosphorylation and positive regulation of TORC1 signaling. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LRGUK Gene

leucine-rich repeats and guanylate kinase domain containing

Predicted to enable guanylate kinase activity. Predicted to be involved in axoneme assembly and spermatogenesis. Predicted to be located in acrosomal vesicle and manchette. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

AUNIP Gene

aurora kinase A and ninein interacting protein

Enables damaged DNA binding activity. Involved in double-strand break repair via homologous recombination; negative regulation of double-strand break repair via nonhomologous end joining; and spindle organization. Located in centrosome; site of DNA damage; and spindle pole. [provided by Alliance of Genome Resources, Mar 2025]

MAGI3 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 3

Predicted to enable frizzled binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within positive regulation of JUN kinase activity. Located in cell junction. [provided by Alliance of Genome Resources, Mar 2025]

MAGI2 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 2

The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]

MAGI1 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 1

The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

TNIK Gene

TRAF2 and NCK interacting kinase

Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

MEHMO Gene

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

MMRFCGU Gene

Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations

SEMA5B Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

SEMA5A Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A

This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]

LOC100422730 Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A pseudogene

RELCH Gene

RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing

Involved in intracellular cholesterol transport. Located in recycling endosome and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

ILRUN Gene

inflammation and lipid regulator with UBA-like and NBR1-like domains

This gene encodes a protein with N-terminal ubiquitin-associated (UBA)-like and central neighbor of BRCA1 gene 1 (NBR1)-like domains. The protein acts an inhibitor of antiviral and proinflammatory cytokine transcription and as a regulator of the renin-angiotensin-aldosterone system (RAAS). [provided by RefSeq, Jul 2021]

CKS1B Gene

CDC28 protein kinase regulatory subunit 1B

CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]

CLK2P1 Gene

CDC-like kinase 2, pseudogene 1

PRKAR2A Gene

protein kinase, cAMP-dependent, regulatory, type II, alpha

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]

PRKAR2B Gene

protein kinase, cAMP-dependent, regulatory, type II, beta

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]

CALM2 Gene

calmodulin 2 (phosphorylase kinase, delta)

This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

CALM3 Gene

calmodulin 3 (phosphorylase kinase, delta)

This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]

CALM1 Gene

calmodulin 1 (phosphorylase kinase, delta)

This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]

LOC105378950 Gene

mitogen-activated protein kinase 7-like

PDK1 Gene

pyruvate dehydrogenase kinase, isozyme 1

Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

PDK3 Gene

pyruvate dehydrogenase kinase, isozyme 3

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

PDK2 Gene

pyruvate dehydrogenase kinase, isozyme 2

This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

PDK4 Gene

pyruvate dehydrogenase kinase, isozyme 4

This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]

SH3KBP1 Gene

SH3-domain kinase binding protein 1

This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

LOC100129843 Gene

pyruvate dehydrogenase kinase, isozyme 1 pseudogene

KIDINS220 Gene

kinase D-interacting substrate, 220kDa

This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

LOC642490 Gene

S-phase kinase-associated protein 1 pseudogene

CSNK1G1 Gene

casein kinase 1, gamma 1

This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]

CSNK1A1L Gene

casein kinase 1, alpha 1-like

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway and signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

RIPK1 Gene

receptor (TNFRSF)-interacting serine-threonine kinase 1

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene in mice results in death shortly after birth. [provided by RefSeq, Aug 2017]

RIPK3 Gene

receptor-interacting serine-threonine kinase 3

The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]

RIPK2 Gene

receptor-interacting serine-threonine kinase 2

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]

LOC731755 Gene

eukaryotic translation initiation factor 2-alpha kinase 1 pseudogene

SRCIN1 Gene

SRC kinase signaling inhibitor 1

Enables protein kinase binding activity. Involved in several processes, including postsynaptic actin cytoskeleton organization; regulation of protein tyrosine kinase activity; and substrate adhesion-dependent cell spreading. Located in actin cytoskeleton and cytoplasm. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Mar 2025]

LOC646012 Gene

aurora kinase A interacting protein 1 pseudogene

PDXK Gene

pyridoxal (pyridoxine, vitamin B6) kinase

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

SLK Gene

STE20-like kinase

Enables protein homodimerization activity and protein serine/threonine kinase activity. Involved in several processes, including cytoplasmic microtubule organization; protein autophosphorylation; and regulation of focal adhesion assembly. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ROS1 Gene

ROS proto-oncogene 1 , receptor tyrosine kinase

This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008]

MARK4 Gene

MAP/microtubule affinity-regulating kinase 4

This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

MARK1 Gene

MAP/microtubule affinity-regulating kinase 1

Enables several functions, including ATP binding activity; magnesium ion binding activity; and phospholipid binding activity. Involved in intracellular signal transduction; negative regulation of epithelial to mesenchymal transition; and protein phosphorylation. Located in cytoplasm; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MARK2 Gene

MAP/microtubule affinity-regulating kinase 2

This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

MARK3 Gene

MAP/microtubule affinity-regulating kinase 3

The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

IRAK1BP1 Gene

interleukin-1 receptor-associated kinase 1 binding protein 1

Predicted to enable signaling adaptor activity. Predicted to be involved in canonical NF-kappaB signal transduction. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

MYLK4 Gene

myosin light chain kinase family, member 4

Predicted to enable myosin light chain kinase activity. Predicted to be involved in signal transduction. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MYLK2 Gene

myosin light chain kinase 2

This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

MYLK3 Gene

myosin light chain kinase 3

Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]

MOB2 Gene

MOB kinase activator 2

Predicted to enable protein kinase activator activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within actin cytoskeleton organization; positive regulation of neuron projection development; and positive regulation of protein phosphorylation. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

DCK Gene

deoxycytidine kinase

Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]

LOC105378176 Gene

proline-rich receptor-like protein kinase PERK2

MOK Gene

MOK protein kinase

This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

CKMT2 Gene

creatine kinase, mitochondrial 2 (sarcomeric)

Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

CDK2AP1 Gene

cyclin-dependent kinase 2 associated protein 1

The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

CDK2AP2 Gene

cyclin-dependent kinase 2 associated protein 2

This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

CKMT1A Gene

creatine kinase, mitochondrial 1A

Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]

CKMT1B Gene

creatine kinase, mitochondrial 1B

Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]

RYK Gene

receptor-like tyrosine kinase

The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

NADK2 Gene

NAD kinase 2, mitochondrial

This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

TAB3P1 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 3 pseudogene 1

GNE Gene

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PDPK2P Gene

3-phosphoinositide dependent protein kinase 2, pseudogene

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in cytoplasm and membrane. [provided by Alliance of Genome Resources, Mar 2025]

LYN Gene

LYN proto-oncogene, Src family tyrosine kinase

This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

LOC101929421 Gene

cyclin-dependent kinase 2-associated protein 1 pseudogene

LOC101929483 Gene

cyclin-dependent kinase 2-associated protein 1 pseudogene

LOC644172 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

STRAP Gene

serine/threonine kinase receptor associated protein

Enables RNA binding activity. Involved in maintenance of gastrointestinal epithelium and spliceosomal snRNP assembly. Acts upstream of with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytosol. Part of SMN complex. Implicated in adenocarcinoma; colorectal carcinoma; large cell carcinoma; lung carcinoma; and squamous cell neoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ROCK1 Gene

Rho-associated, coiled-coil containing protein kinase 1

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]

ROCK2 Gene

Rho-associated, coiled-coil containing protein kinase 2

The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]

WNK3 Gene

WNK lysine deficient protein kinase 3

This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

MOB1A Gene

MOB kinase activator 1A

The protein encoded by this gene is a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

MOB1B Gene

MOB kinase activator 1B

The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

CDK7PS Gene

cyclin-dependent kinase 7 pseudogene

AGKP1 Gene

acylglycerol kinase pseudogene 1

FGR Gene

FGR proto-oncogene, Src family tyrosine kinase

This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

MOB3C Gene

MOB kinase activator 3C

The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

LRRK1 Gene

leucine-rich repeat kinase 1

This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]

LRRK2 Gene

leucine-rich repeat kinase 2

This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]

LOC392543 Gene

acylglycerol kinase pseudogene

CHKA Gene

choline kinase alpha

The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CHKB Gene

choline kinase beta

Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]

MAPK1IP1L Gene

mitogen-activated protein kinase 1 interacting protein 1-like

CERK Gene

ceramide kinase

CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]

LOC100419356 Gene

ethanolamine kinase 1 pseudogene

CDK20 Gene

cyclin-dependent kinase 20

The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009]

PKIG Gene

protein kinase (cAMP-dependent, catalytic) inhibitor gamma

This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PKIA Gene

protein kinase (cAMP-dependent, catalytic) inhibitor alpha

The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

PKIB Gene

protein kinase (cAMP-dependent, catalytic) inhibitor beta

This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MAPK3 Gene

mitogen-activated protein kinase 3

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]

MAPK1 Gene

mitogen-activated protein kinase 1

This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]

MAPK6 Gene

mitogen-activated protein kinase 6

The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]

MAPK4 Gene

mitogen-activated protein kinase 4

Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

MAPK8 Gene

mitogen-activated protein kinase 8

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Apr 2016]

MAPK9 Gene

mitogen-activated protein kinase 9

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]

HCK Gene

HCK proto-oncogene, Src family tyrosine kinase

The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010]

BUB1 Gene

BUB1 mitotic checkpoint serine/threonine kinase

This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RPS6KB3 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 3

FERP1 Gene

fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 1

LOC102723727 Gene

mitogen-activated protein kinase 7-like

CDKN3 Gene

cyclin-dependent kinase inhibitor 3

The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

PSKH2 Gene

protein serine kinase H2

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PSKH1 Gene

protein serine kinase H1

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within determination of left/right symmetry; heart development; and protein phosphorylation. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

LOC100996361 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1 pseudogene

CKS2 Gene

CDC28 protein kinase regulatory subunit 2

CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]

FASTK Gene

Fas-activated serine/threonine kinase

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]

PGK2 Gene

phosphoglycerate kinase 2

This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010]

PGK1 Gene

phosphoglycerate kinase 1

The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]

ABL1 Gene

ABL proto-oncogene 1, non-receptor tyrosine kinase

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

ABL2 Gene

ABL proto-oncogene 2, non-receptor tyrosine kinase

This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

TNNI3K Gene

TNNI3 interacting kinase

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]

LOC100421425 Gene

calmodulin 2 (phosphorylase kinase, delta) pseudogene

HIPK2 Gene

homeodomain interacting protein kinase 2

This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

CARKD Gene

carbohydrate kinase domain containing

Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

PINK1 Gene

PTEN induced putative kinase 1

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]

LOC400026 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene

RPS6KB1 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1

This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]

RPS6KB2 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 2

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]

CDK11A Gene

cyclin-dependent kinase 11A

This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

CDK11B Gene

cyclin-dependent kinase 11B

This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

LOC100130664 Gene

cytidine monophosphate (UMP-CMP) kinase 1, cytosolic pseudogene

PHKG1P2 Gene

phosphorylase kinase, gamma 1 pseudogene 2

CAMK2D Gene

calcium/calmodulin-dependent protein kinase II delta

The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]

CAMK2G Gene

calcium/calmodulin-dependent protein kinase II gamma

The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]

CAMK2A Gene

calcium/calmodulin-dependent protein kinase II alpha

The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]

CAMK2B Gene

calcium/calmodulin-dependent protein kinase II beta

The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

JAK2 Gene

Janus kinase 2

This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]

JAK3 Gene

Janus kinase 3

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]

JAK1 Gene

Janus kinase 1

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]

PRKDC Gene

protein kinase, DNA-activated, catalytic polypeptide

This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

PRKAR1AP Gene

protein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene

PBK Gene

PDZ binding kinase

This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PRKD1 Gene

protein kinase D1

The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]

PRKD2 Gene

protein kinase D2

The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PRKD3 Gene

protein kinase D3

This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]

NRK Gene

Nik related kinase

The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]

LOC646801 Gene

pantothenate kinase 3 pseudogene

LOC100420990 Gene

aurora kinase A interacting protein 1 pseudogene

CDK2AP2P1 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene 1

CDK2AP2P3 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene 3

DCLK1 Gene

doublecortin-like kinase 1

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]

DCLK3 Gene

doublecortin-like kinase 3

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in protein localization to nucleus. Predicted to act upstream of or within negative regulation of protein localization to nucleus and peptidyl-serine phosphorylation. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

DCLK2 Gene

doublecortin-like kinase 2

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010]

CNKSR1 Gene

connector enhancer of kinase suppressor of Ras 1

This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CNKSR2 Gene

connector enhancer of kinase suppressor of Ras 2

This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

IKBKAP Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

PHKG1P4 Gene

phosphorylase kinase, gamma 1 pseudogene 4

STK38L Gene

serine/threonine kinase 38 like

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in intracellular signal transduction and negative regulation of autophagy. Acts upstream of or within protein phosphorylation. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

PHKG1P1 Gene

phosphorylase kinase, gamma 1 pseudogene 1

PHKG1P3 Gene

phosphorylase kinase, gamma 1 pseudogene 3

PRKRAP1 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene 1

MAPKBP1 Gene

mitogen-activated protein kinase binding protein 1

This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]

GRK6 Gene

G protein-coupled receptor kinase 6

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GRK7 Gene

G protein-coupled receptor kinase 7

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008]

GRK4 Gene

G protein-coupled receptor kinase 4

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GRK5 Gene

G protein-coupled receptor kinase 5

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]

GRK1 Gene

G protein-coupled receptor kinase 1

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]

DAPK3 Gene

death-associated protein kinase 3

Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]

DAPK2 Gene

death-associated protein kinase 2

This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

DAPK1 Gene

death-associated protein kinase 1

Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ULK2 Gene

unc-51 like autophagy activating kinase 2

This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]

ULK3 Gene

unc-51 like kinase 3

Enables protein serine/threonine kinase activity. Involved in several processes, including fibroblast activation; protein autophosphorylation; and regulation of smoothened signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ULK1 Gene

unc-51 like autophagy activating kinase 1

Enables identical protein binding activity; protein serine/threonine kinase activity; and small GTPase binding activity. Involved in several processes, including protein phosphorylation; regulation of autophagy; and regulation of protein lipidation. Located in bounding membrane of organelle; cytosol; and phagophore assembly site membrane. Part of Atg1/ULK1 kinase complex and phagophore assembly site. Is active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ULK4 Gene

unc-51 like kinase 4

This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]

STK19 Gene

serine/threonine kinase 19

This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]

STK10 Gene

serine/threonine kinase 10

This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]

STK11 Gene

serine/threonine kinase 11

The protein encoded by this gene is a serine/threonine kinase that regulates cell polarity and energy metabolism and functions as a tumor suppressor. Mutations in this gene have been associated with the autosomal dominant Peutz-Jeghers syndrome, as well as with skin, pancreatic, and testicular cancers. [provided by RefSeq, May 2022]

STK16 Gene

serine/threonine kinase 16

Predicted to enable protein serine/threonine kinase activity. Involved in protein autophosphorylation. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100736408 Gene

NAD kinase 2, mitochondrial pseudogene

PRKCSH Gene

protein kinase C substrate 80K-H

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

CERKL Gene

ceramide kinase-like

This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]

MAPK8IPP Gene

mitogen-activated protein kinase 8 interacting protein, pseudogene

PI4KAP2 Gene

phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2

Predicted to enable kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025]

PHKB Gene

phosphorylase kinase, beta

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]

IKBKG Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]

PIK3IP1 Gene

phosphoinositide-3-kinase interacting protein 1

Enables phosphatidylinositol 3-kinase inhibitor activity. Involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LOC100421494 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

NIM1K Gene

NIM1 serine/threonine protein kinase

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1G2 Gene

casein kinase 1, gamma 2

Enables protein serine/threonine kinase activity. Predicted to be involved in endocytosis; positive regulation of canonical Wnt signaling pathway; and signal transduction. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1G3 Gene

casein kinase 1, gamma 3

This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

PRKACG Gene

protein kinase, cAMP-dependent, catalytic, gamma

Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008]

PRKACA Gene

protein kinase, cAMP-dependent, catalytic, alpha

This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]

PRKACB Gene

protein kinase, cAMP-dependent, catalytic, beta

The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]

LOC100418693 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene

LOC100418694 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene

ALPK1 Gene

alpha-kinase 1

This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ALPK3 Gene

alpha-kinase 3

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in familial hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1A1 Gene

casein kinase 1, alpha 1

Enables protein serine/threonine kinase activity. Involved in several processes, including peptidyl-serine phosphorylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and regulation of signal transduction. Located in cytoskeleton; cytosol; and nucleus. Part of beta-catenin destruction complex. Biomarker of Alzheimer's disease and inclusion body myositis. [provided by Alliance of Genome Resources, Mar 2025]

PRKCDBP Gene

protein kinase C, delta binding protein

The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]

SKP1P3 Gene

S-phase kinase-associated protein 1 pseudogene 3

SKP1P2 Gene

S-phase kinase-associated protein 1 pseudogene 2

LOC101154643 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene

MARCKS Gene

myristoylated alanine-rich protein kinase C substrate

The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq, Jul 2008]

CLK3P1 Gene

CDC-like kinase 3 pseudogene 1

ADRBK1 Gene

adrenergic, beta, receptor kinase 1

This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]

ADRBK2 Gene

adrenergic, beta, receptor kinase 2

The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]

PRKRIR Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)

Predicted to enable several functions, including DNA binding activity; metal ion binding activity; and protein dimerization activity. Predicted to be involved in negative regulation of cell population proliferation and signal transduction. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1A1P3 Gene

casein kinase 1, alpha 1 pseudogene 3

CSNK1A1P2 Gene

casein kinase 1, alpha 1 pseudogene 2

CSNK1A1P1 Gene

casein kinase 1, alpha 1 pseudogene 1

LOC100313968 Gene

riboflavin kinase pseudogene

TTBK2 Gene

tau tubulin kinase 2

This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]

TTBK1 Gene

tau tubulin kinase 1

Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]

NEK6 Gene

NIMA-related kinase 6

The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NEK7 Gene

NIMA-related kinase 7

NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]

NEK4 Gene

NIMA-related kinase 4

The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]

NEK5 Gene

NIMA-related kinase 5

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within positive regulation of cysteine-type endopeptidase activity and positive regulation of striated muscle cell differentiation. [provided by Alliance of Genome Resources, Mar 2025]

NEK2 Gene

NIMA-related kinase 2

This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]

NEK3 Gene

NIMA-related kinase 3

This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019]

NEK8 Gene

NIMA-related kinase 8

This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]

NEK9 Gene

NIMA-related kinase 9

This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]

BMX Gene

BMX non-receptor tyrosine kinase

This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

AK2P2 Gene

adenylate kinase 2 pseudogene 2

AURKA Gene

aurora kinase A

The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

AURKB Gene

aurora kinase B

This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]

AURKC Gene

aurora kinase C

This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

AXL Gene

AXL receptor tyrosine kinase

The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]

SKAP2 Gene

src kinase associated phosphoprotein 2

The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

SKAP1 Gene

src kinase associated phosphoprotein 1

This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]

STK11IP Gene

serine/threonine kinase 11 interacting protein

Enables protein kinase binding activity. Involved in protein localization. Located in cytoplasm and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

TBK1 Gene

TANK-binding kinase 1

The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]

MET Gene

MET proto-oncogene, receptor tyrosine kinase

This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]

LMTK3 Gene

lemur tyrosine kinase 3

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling. Predicted to be located in Golgi membrane; axon; and dendrite. [provided by Alliance of Genome Resources, Mar 2025]

LMTK2 Gene

lemur tyrosine kinase 2

The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]

TLK2P1 Gene

tousled-like kinase 2 pseudogene 1

MYLKP1 Gene

myosin light chain kinase pseudogene 1 (functional)

CLK1 Gene

CDC-like kinase 1

This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

CLK2 Gene

CDC-like kinase 2

This gene encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

CLK3 Gene

CDC-like kinase 3

This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008]

CLK4 Gene

CDC-like kinase 4

The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008]

MTOR Gene

mechanistic target of rapamycin (serine/threonine kinase)

The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]

ROR2 Gene

receptor tyrosine kinase-like orphan receptor 2

The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]

ROR1 Gene

receptor tyrosine kinase-like orphan receptor 1

This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012]

LOC100420035 Gene

phosphoglycerate kinase 1 pseudogene

STRADBP1 Gene

STE20-related kinase adaptor beta pseudogene 1

PIP4K2A Gene

phosphatidylinositol-5-phosphate 4-kinase, type II, alpha

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]

PIP4K2C Gene

phosphatidylinositol-5-phosphate 4-kinase, type II, gamma

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of insulin receptor signaling pathway; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PIP4K2B Gene

phosphatidylinositol-5-phosphate 4-kinase, type II, beta

The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]

PRKG1 Gene

protein kinase, cGMP-dependent, type I

Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]

PRKG2 Gene

protein kinase, cGMP-dependent, type II

This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The membrane-bound protein is a regulator of intestinal secretion, bone growth and renin secretion. Alternate splicing results in multiple transcript variants encoding distinct isoforms whose regulatory N-termini differ in length but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]

LOC100418961 Gene

aurora kinase A pseudogene

CALM1P1 Gene

calmodulin 1 (phosphorylase kinase, delta) pseudogene 1

CALM1P2 Gene

calmodulin 1 (phosphorylase kinase, delta) pseudogene 2

PEAK1 Gene

pseudopodium-enriched atypical kinase 1

This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]

LOC648774 Gene

polo-like kinase 1 (Drosophila) pseudogene

AKAP11 Gene

A kinase (PRKA) anchor protein 11

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]

MAPK14 Gene

mitogen-activated protein kinase 14

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

MAPK15 Gene

mitogen-activated protein kinase 15

Enables MAP kinase activity and chromatin binding activity. Involved in several processes, including dopamine uptake; protein localization to ciliary transition zone; and regulation of organelle organization. Located in several cellular components, including Golgi apparatus; autophagosome; and microtubule organizing center. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Mar 2025]

MAPK10 Gene

mitogen-activated protein kinase 10

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]

MAPK11 Gene

mitogen-activated protein kinase 11

This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

MAPK12 Gene

mitogen-activated protein kinase 12

Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]

MAPK13 Gene

mitogen-activated protein kinase 13

This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

CKS1BP4 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 4

TYRO3 Gene

TYRO3 protein tyrosine kinase

The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]

AK9 Gene

adenylate kinase 9

The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

AK8 Gene

adenylate kinase 8

Enables AMP binding activity and nucleobase-containing compound kinase activity. Predicted to be involved in nucleoside monophosphate phosphorylation. Predicted to act upstream of or within ventricular system development. Located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

TBCK Gene

TBC1 domain containing kinase

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

AK3 Gene

adenylate kinase 3

The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

AK2 Gene

adenylate kinase 2

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

AK1 Gene

adenylate kinase 1

This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]

AK4 Gene

adenylate kinase 4

This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]

LOC100419916 Gene

cyclin-dependent kinase 8 pseudogene

BCKDK Gene

branched chain ketoacid dehydrogenase kinase

The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

SKP2 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]

SKP1 Gene

S-phase kinase-associated protein 1

This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]

BMP2K Gene

BMP2 inducible kinase

This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NME2P1 Gene

NME/NM23 nucleoside diphosphate kinase 2 pseudogene 1

Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in regulation of apoptotic process. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CMPK1 Gene

cytidine monophosphate (UMP-CMP) kinase 1, cytosolic

This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]

CMPK2 Gene

cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial

This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

TYK2 Gene

tyrosine kinase 2

This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]

PIK3C2B Gene

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]

PIK3C2A Gene

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]

PIK3C2G Gene

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PRKRA Gene

protein kinase, interferon-inducible double stranded RNA dependent activator

This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

PIP5K1P1 Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1

PIP5K1P2 Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 2

LOC100288125 Gene

NME/NM23 nucleoside diphosphate kinase 2 pseudogene

LOC728098 Gene

mitogen-activated protein kinase 1 interacting protein 1-like pseudogene

LOC100499399 Gene

adenylate kinase 3 pseudogene

AK6P2 Gene

adenylate kinase 6 pseudogene 2

AK6P1 Gene

adenylate kinase 6 pseudogene 1

GSK3A Gene

glycogen synthase kinase 3 alpha

This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]

GSK3B Gene

glycogen synthase kinase 3 beta

The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]

LOC102724428 Gene

serine/threonine-protein kinase SIK1

RFKP1 Gene

riboflavin kinase pseudogene 1

LOC100131680 Gene

52 kDa repressor of the inhibitor of the protein kinase-like

LOC100129948 Gene

riboflavin kinase pseudogene

TESK1 Gene

testis-specific kinase 1

This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

TESK2 Gene

testis-specific kinase 2

This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

STK25P1 Gene

serine/threonine kinase 25 pseudogene 1

PKM Gene

pyruvate kinase, muscle

This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]

LOC642355 Gene

nucleoside diphosphate kinase, mitochondrial-like

LOC105379534 Gene

proline-rich receptor-like protein kinase PERK2

LIMK2 Gene

LIM domain kinase 2

There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LIMK1 Gene

LIM domain kinase 1

There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]

LOC100289315 Gene

NME/NM23 nucleoside diphosphate kinase 2 pseudogene

PIK3R6 Gene

phosphoinositide-3-kinase, regulatory subunit 6

Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

PIK3R5 Gene

phosphoinositide-3-kinase, regulatory subunit 5

Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]

PIK3R4 Gene

phosphoinositide-3-kinase, regulatory subunit 4

Predicted to enable protein serine/threonine kinase activity. Involved in several processes, including early endosome to late endosome transport; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and phosphatidylinositol-3-phosphate biosynthetic process. Located in late endosome and microtubule cytoskeleton. Part of phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Mar 2025]

PIK3R3 Gene

phosphoinositide-3-kinase, regulatory subunit 3 (gamma)

Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]

PIK3R2 Gene

phosphoinositide-3-kinase, regulatory subunit 2 (beta)

Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]

PIK3R1 Gene

phosphoinositide-3-kinase, regulatory subunit 1 (alpha)

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

TSKS Gene

testis-specific serine kinase substrate

This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]

FER Gene

fer (fps/fes related) tyrosine kinase

The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]

FES Gene

FES proto-oncogene, tyrosine kinase

This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]

MAPK8IP1 Gene

mitogen-activated protein kinase 8 interacting protein 1

This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]

MAPK8IP2 Gene

mitogen-activated protein kinase 8 interacting protein 2

This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]

MAPK8IP3 Gene

mitogen-activated protein kinase 8 interacting protein 3

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

LOC158948 Gene

protein kinase C, iota pseudogene

PRKAR1A Gene

protein kinase, cAMP-dependent, regulatory, type I, alpha

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]

PRKAR1B Gene

protein kinase, cAMP-dependent, regulatory, type I, beta

The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]

DCAKD Gene

dephospho-CoA kinase domain containing

Enables dephospho-CoA kinase activity. Predicted to be involved in coenzyme A biosynthetic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

SKP1P1 Gene

S-phase kinase-associated protein 1 pseudogene 1

TK2 Gene

thymidine kinase 2, mitochondrial

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]

TK1 Gene

thymidine kinase 1, soluble

The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]

RPS6KL1 Gene

ribosomal protein S6 kinase-like 1

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to be located in ribosome. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC100422375 Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha pseudogene

AKAP8L Gene

A kinase (PRKA) anchor protein 8-like

Enables histone deacetylase binding activity and lamin binding activity. Involved in several processes, including cell cycle G2/M phase transition; mitotic chromosome condensation; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

MLKL Gene

mixed lineage kinase domain-like

This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015]

MOB1AP2 Gene

MOB kinase activator 1A pseudogene 2

MOB1AP1 Gene

MOB kinase activator 1A pseudogene 1

CASK Gene

calcium/calmodulin-dependent serine protein kinase (MAGUK family)

This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

HUNK Gene

hormonally up-regulated Neu-associated kinase

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to act upstream of or within protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SBK1 Gene

SH3 domain binding kinase 1

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

STRADB Gene

STE20-related kinase adaptor beta

This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

KIAA1804 Gene

mixed lineage kinase 4

Predicted to enable JUN kinase kinase kinase activity and protein homodimerization activity. Predicted to be involved in protein autophosphorylation and signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

BRAF Gene

B-Raf proto-oncogene, serine/threonine kinase

This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]

RIOK3 Gene

RIO kinase 3

This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]

RIOK1 Gene

RIO kinase 1

The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]

CAMK2N2 Gene

calcium/calmodulin-dependent protein kinase II inhibitor 2

This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008]

CAMK2N1 Gene

calcium/calmodulin-dependent protein kinase II inhibitor 1

Predicted to enable calcium-dependent protein kinase inhibitor activity and protein kinase binding activity. Predicted to be involved in long-term memory and positive regulation of inflammatory response. Predicted to be located in neuronal cell body and synapse. Implicated in ovarian cancer; ovarian carcinoma; and prostate adenocarcinoma. Biomarker of hepatocellular carcinoma; oral squamous cell carcinoma; papillary thyroid carcinoma; and prostate cancer. [provided by Alliance of Genome Resources, Mar 2025]

NMRK2 Gene

nicotinamide riboside kinase 2

Enables ribosylnicotinamide kinase activity and ribosylnicotinate kinase activity. Predicted to be involved in NAD metabolic process. Predicted to act upstream of or within negative regulation of myoblast differentiation. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

NMRK1 Gene

nicotinamide riboside kinase 1

Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008]

MARCKSP1 Gene

myristoylated alanine-rich protein kinase C substrate pseudogene 1

FLJ25758 Gene

MAP/microtubule affinity-regulating kinase 1 pseudogene

TXK Gene

TXK tyrosine kinase

Predicted to enable non-membrane spanning protein tyrosine kinase activity. Involved in positive regulation of macromolecule biosynthetic process; positive regulation of type II interferon-mediated signaling pathway; and protein autophosphorylation. Located in cytosol; nuclear lumen; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC105371128 Gene

serine/threonine-protein kinase SMG1-like

AK4P4 Gene

adenylate kinase 4 pseudogene 4

SGK2 Gene

serum/glucocorticoid regulated kinase 2

This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

NRGN Gene

neurogranin (protein kinase C substrate, RC3)

Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008]

PXK Gene

PX domain containing serine/threonine kinase

This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LOC100422398 Gene

protein kinase, cAMP-dependent, regulatory, type II, beta pseudogene

GIT1 Gene

G protein-coupled receptor kinase interacting ArfGAP 1

Enables gamma-tubulin binding activity. Involved in positive regulation of microtubule nucleation and regulation of cytokinesis. Located in several cellular components, including focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated in attention deficit hyperactivity disorder. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

GIT2 Gene

G protein-coupled receptor kinase interacting ArfGAP 2

This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]

CSNK1G2P1 Gene

casein kinase 1, gamma 2 pseudogene 1

WNK4 Gene

WNK lysine deficient protein kinase 4

This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]

STK32C Gene

serine/threonine kinase 32C

The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

STK32B Gene

serine/threonine kinase 32B

This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

STK32A Gene

serine/threonine kinase 32A

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100419969 Gene

myosin light chain kinase pseudogene

MAPK6PS6 Gene

mitogen-activated protein kinase 6 pseudogene 6

MAPK6PS3 Gene

mitogen-activated protein kinase 6 pseudogene 3

TSSK1A Gene

testis-specific serine kinase 1A pseudogene

TSSK1B Gene

testis-specific serine kinase 1B

TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

CSNK2B Gene

casein kinase 2, beta polypeptide

This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

RIOK2 Gene

RIO kinase 2

Predicted to enable protein kinase activity. Involved in several processes, including positive regulation of rRNA processing; positive regulation of ribosomal small subunit export from nucleus; and regulation of mitotic metaphase/anaphase transition. Located in cytoplasm. Part of preribosome, small subunit precursor. [provided by Alliance of Genome Resources, Mar 2025]

DYRK3 Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3

This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

DYRK2 Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2

DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]

DYRK4 Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4

This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

GK Gene

glycerol kinase

The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

FLT4 Gene

fms-related tyrosine kinase 4

This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]

FLT1 Gene

fms-related tyrosine kinase 1

This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]

PRKY Gene

protein kinase, Y-linked, pseudogene

This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]

PRKX Gene

protein kinase, X-linked

This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]

PFKFB1 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]

PFKFB3 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]

PFKFB2 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PFKFB4 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

MASTL Gene

microtubule associated serine/threonine kinase-like

This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]

MAST1 Gene

microtubule associated serine/threonine kinase 1

This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]

MAST2 Gene

microtubule associated serine/threonine kinase 2

Enables phosphatase binding activity. Predicted to be involved in several processes, including protein phosphorylation; regulation of interleukin-12 production; and spermatid differentiation. Predicted to be located in cytoplasm; cytoskeleton; and plasma membrane. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

MAST3 Gene

microtubule associated serine/threonine kinase 3

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization and intracellular signal transduction. Predicted to be located in cytoplasm. Implicated in developmental and epileptic encephalopathy 108. [provided by Alliance of Genome Resources, Mar 2025]

MAST4 Gene

microtubule associated serine/threonine kinase family member 4

This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

LCK Gene

LCK proto-oncogene, Src family tyrosine kinase

This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]

GRK6P1 Gene

G protein-coupled receptor kinase 6 pseudogene 1

CAMK1G Gene

calcium/calmodulin-dependent protein kinase IG

Predicted to enable calcium/calmodulin-dependent protein kinase activity and calmodulin binding activity. Predicted to be involved in signal transduction. Predicted to be located in Golgi membrane and plasma membrane. Predicted to be part of calcium- and calmodulin-dependent protein kinase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

DGKZ Gene

diacylglycerol kinase, zeta

The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]

DGKQ Gene

diacylglycerol kinase, theta 110kDa

The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]

DGKK Gene

diacylglycerol kinase, kappa

The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]

DGKH Gene

diacylglycerol kinase, eta

This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]

DGKI Gene

diacylglycerol kinase, iota

This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]

DGKB Gene

diacylglycerol kinase, beta 90kDa

Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

DGKA Gene

diacylglycerol kinase, alpha 80kDa

The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Several transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2017]

DGKG Gene

diacylglycerol kinase, gamma 90kDa

This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DGKD Gene

diacylglycerol kinase, delta 130kDa

This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DGKE Gene

diacylglycerol kinase, epsilon 64kDa

Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]

ICK Gene

intestinal cell (MAK-like) kinase

Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

NME1P1 Gene

NME/NM23 nucleoside diphosphate kinase 1 pseudogene 1

LOC392226 Gene

serine/threonine-protein kinase PLK1-like

CDK5R1 Gene

cyclin-dependent kinase 5, regulatory subunit 1 (p35)

The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]

MELK Gene

maternal embryonic leucine zipper kinase

Enables calcium ion binding activity; non-membrane spanning protein tyrosine kinase activity; and protein serine/threonine kinase activity. Involved in apoptotic process; cell population proliferation; and protein autophosphorylation. Located in cell cortex and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CKBE Gene

creatine kinase, ectopic expression

STK19B Gene

serine/threonine kinase 19B, pseudogene

PRKRIRP8 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 8

PRKRIRP9 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 9

PRKRIRP1 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 1

PRKRIRP2 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 2

PRKRIRP3 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 3

PRKRIRP4 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 4

PRKRIRP5 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 5

PRKRIRP6 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 6

PRKRIRP7 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 7

LOC101929775 Gene

C-Jun-amino-terminal kinase-interacting protein 1-like

IBTK Gene

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

MYLK Gene

myosin light chain kinase

This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]

STK31 Gene

serine/threonine kinase 31

This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

STK33 Gene

serine/threonine kinase 33

Enables protein serine/threonine kinase activity. Involved in spermatogenesis. Predicted to be located in manchette. Predicted to be active in cytoplasm and nucleus. Implicated in colorectal cancer; depressive disorder; and spermatogenic failure 93. [provided by Alliance of Genome Resources, Mar 2025]

STK35 Gene

serine/threonine kinase 35

The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]

STK36 Gene

serine/threonine kinase 36

This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

STK38 Gene

serine/threonine kinase 38

This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

MINK1 Gene

misshapen-like kinase 1

This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]

LOC100130500 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase pseudogene

BORA Gene

bora, aurora kinase A activator

BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]

CSNK2A3 Gene

casein kinase 2, alpha 3 polypeptide

This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012]

CSNK2A2 Gene

casein kinase 2, alpha prime polypeptide

This gene encodes the alpha', or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha', and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [provided by RefSeq, Aug 2017]

CSNK2A1 Gene

casein kinase 2, alpha 1 polypeptide

Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]

SPHK2 Gene

sphingosine kinase 2

This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

SPHK1 Gene

sphingosine kinase 1

The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Phosphorylation of this protein alters its catalytic activity and promotes its translocation to the plasma membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]

BEGAIN Gene

brain-enriched guanylate kinase-associated

Predicted to enable kinase activity. Predicted to be involved in evoked excitatory postsynaptic potential and regulation of postsynaptic neurotransmitter receptor activity. Predicted to be located in dendrite; nucleus; and presynapse. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

LOC100533949 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

ZAP70 Gene

zeta-chain (TCR) associated protein kinase 70kDa

This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ILKAP Gene

integrin-linked kinase-associated serine/threonine phosphatase

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]

PIKFYVE Gene

phosphoinositide kinase, FYVE finger containing

Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. [provided by RefSeq, Jul 2021]

PRKXP1 Gene

protein kinase, X-linked, pseudogene 1

PRKXP2 Gene

protein kinase, X-linked, pseudogene 2

PMVK Gene

phosphomevalonate kinase

This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

PSTK Gene

phosphoseryl-tRNA kinase

Predicted to enable kinase activity and tRNA binding activity. Predicted to be involved in translation. Predicted to act upstream of or within selenocysteine incorporation. [provided by Alliance of Genome Resources, Mar 2025]

CDK18 Gene

cyclin-dependent kinase 18

Predicted to enable cyclin-dependent protein serine/threonine kinase activity. Involved in positive regulation of myelination. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CDK19 Gene

cyclin-dependent kinase 19

This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

CDK12 Gene

cyclin-dependent kinase 12

Enables RNA polymerase II CTD heptapeptide repeat kinase activity and cyclin binding activity. Involved in several processes, including positive regulation of transcription elongation by RNA polymerase II; protein autophosphorylation; and regulation of MAP kinase activity. Located in nuclear speck. Part of cyclin K-CDK12 complex. Biomarker of gastric adenocarcinoma; hepatocellular carcinoma; and stomach cancer. [provided by Alliance of Genome Resources, Mar 2025]

CDK13 Gene

cyclin-dependent kinase 13

The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]

CDK10 Gene

cyclin-dependent kinase 10

The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

CDK16 Gene

cyclin-dependent kinase 16

The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009]

CDK17 Gene

cyclin-dependent kinase 17

The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]

CDK14 Gene

cyclin-dependent kinase 14

Enables cyclin binding activity and cyclin-dependent protein serine/threonine kinase activity. Involved in G2/M transition of mitotic cell cycle and regulation of canonical Wnt signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Part of cytoplasmic cyclin-dependent protein kinase holoenzyme complex. [provided by Alliance of Genome Resources, Mar 2025]

CDK15 Gene

cyclin-dependent kinase 15

Enables protein serine/threonine kinase activity. Predicted to be involved in regulation of cell cycle phase transition. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SGK494 Gene

uncharacterized serine/threonine-protein kinase SgK494

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling. [provided by Alliance of Genome Resources, Mar 2025]

PTK2 Gene

protein tyrosine kinase 2

This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]

PTK7 Gene

protein tyrosine kinase 7 (inactive)

This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

PTK6 Gene

protein tyrosine kinase 6

The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

PRKAA2 Gene

protein kinase, AMP-activated, alpha 2 catalytic subunit

The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]

PRKAA1 Gene

protein kinase, AMP-activated, alpha 1 catalytic subunit

The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

STK16P1 Gene

serine/threonine kinase 16 pseudogene 1

HIPK3 Gene

homeodomain interacting protein kinase 3

Enables protein serine/threonine kinase activity. Involved in mRNA transcription; negative regulation of apoptotic process; and protein phosphorylation. Located in cytosol; nuclear body; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

HIPK1 Gene

homeodomain interacting protein kinase 1

The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]

HIPK4 Gene

homeodomain interacting protein kinase 4

This gene encodes a member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016]

CDKN1C Gene

cyclin-dependent kinase inhibitor 1C (p57, Kip2)

This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

CDKN1B Gene

cyclin-dependent kinase inhibitor 1B (p27, Kip1)

This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]

CDKN1A Gene

cyclin-dependent kinase inhibitor 1A (p21, Cip1)

This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]

PLK1 Gene

polo-like kinase 1

The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]

PLK3 Gene

polo-like kinase 3

The protein encoded by this gene is a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal kinase domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cellular localization signal. Polo-like kinases are important regulators of cell cycle progression. This gene has also been implicated in stress responses and double-strand break repair. In human cell lines, this protein is reported to associate with centrosomes in a microtubule-dependent manner, and during mitosis, the protein becomes localized to the mitotic apparatus. Expression of a kinase-defective mutant results in abnormal cell morphology caused by changes in microtubule dynamics and mitotic arrest followed by apoptosis. [provided by RefSeq, Sep 2015]

PLK2 Gene

polo-like kinase 2

The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

PLK5 Gene

polo-like kinase 5

Predicted to enable ATP binding activity and protein kinase activity. Involved in several processes, including defense response to tumor cell; positive regulation of neuron projection development; and regulation of G1/S transition of mitotic cell cycle. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PLK4 Gene

polo-like kinase 4

This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

AURKAIP1 Gene

aurora kinase A interacting protein 1

Acts upstream of or within positive regulation of proteolysis. Located in mitochondrial matrix and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RIOK3P1 Gene

RIO kinase 3 pseudogene 1

LATS2 Gene

large tumor suppressor kinase 2

This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]

LATS1 Gene

large tumor suppressor kinase 1

The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. [provided by RefSeq, Apr 2017]

LOC646214 Gene

p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene

LOC391349 Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta pseudogene

AK2P1 Gene

adenylate kinase 2 pseudogene 1

SRPK2P Gene

SRSF protein kinase 2 pseudogene

IBTKP1 Gene

inhibitor of Bruton agammaglobulinemia tyrosine kinase pseudogene 1

CDK8PS Gene

cyclin-dependent kinase 8 pseudogene

PKN1 Gene

protein kinase N1

The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PKN3 Gene

protein kinase N3

Predicted to enable protein serine/threonine kinase activity. Involved in epithelial cell migration. Predicted to be located in Golgi apparatus; cytosol; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

PKN2 Gene

protein kinase N2

Enables RNA polymerase binding activity; histone deacetylase binding activity; and protein serine/threonine kinase activity. Involved in several processes, including apical junction assembly; positive regulation of cell cycle; and positive regulation of viral genome replication. Located in several cellular components, including cleavage furrow; cytoskeleton; and midbody. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1D Gene

casein kinase 1, delta

This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]

CSNK1E Gene

casein kinase 1, epsilon

The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]

PDK1P1 Gene

pyruvate dehydrogenase kinase, isozyme 1 pseudogene 1

CIT Gene

citron rho-interacting serine/threonine kinase

This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

TSSK2 Gene

testis-specific serine kinase 2

TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

LOC100652794 Gene

UMP-CMP kinase pseudogene

RPS6KA1 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 1

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

RPS6KA2 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 2

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]

RPS6KA3 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 3

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]

RPS6KA4 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 4

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

RPS6KA5 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 5

Enables ATP binding activity and protein kinase activity. Involved in several processes, including interleukin-1-mediated signaling pathway; protein modification process; and regulation of DNA-templated transcription. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RPS6KA6 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 6

This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [provided by RefSeq, Jan 2010]

MARK2P12 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 12

ETNK2 Gene

ethanolamine kinase 2

The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ETNK1 Gene

ethanolamine kinase 1

This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

STRADA Gene

STE20-related kinase adaptor alpha

The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]

PNKP Gene

polynucleotide kinase 3'-phosphatase

This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]

LOC100422399 Gene

protein kinase, cAMP-dependent, regulatory, type II, beta pseudogene

CAMK1D Gene

calcium/calmodulin-dependent protein kinase ID

This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]

MAPK6PS4 Gene

mitogen-activated protein kinase 6 pseudogene 4

MAPK6PS5 Gene

mitogen-activated protein kinase 6 pseudogene 5

MAPK6PS2 Gene

mitogen-activated protein kinase 6 pseudogene 2

MAPK6PS1 Gene

mitogen-activated protein kinase 6 pseudogene 1

TLK1 Gene

tousled-like kinase 1

The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

TLK2 Gene

tousled-like kinase 2

This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

BUB1B Gene

BUB1 mitotic checkpoint serine/threonine kinase B

This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]

STK3 Gene

serine/threonine kinase 3

This gene encodes a serine/threonine protein kinase activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

STK4 Gene

serine/threonine kinase 4

The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008]

PHKA1P1 Gene

phosphorylase kinase, alpha 1 pseudogene 1

AURKBPS1 Gene

aurora kinase B pseudogene 1

SGK3 Gene

serum/glucocorticoid regulated kinase family, member 3

This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

AKIP1 Gene

A kinase (PRKA) interacting protein 1

This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

MARK2P8 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 8

MARK2P9 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 9

MARK2P4 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 4

MARK2P5 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 5

MARK2P6 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 6

MARK2P7 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 7

MARK2P1 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 1

MARK2P2 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 2

MARK2P3 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 3

HYKK Gene

hydroxylysine kinase

Enables hydroxylysine kinase activity. Predicted to be involved in lysine catabolic process. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

VRK1 Gene

vaccinia related kinase 1

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]

VRK3 Gene

vaccinia related kinase 3

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

VRK2 Gene

vaccinia related kinase 2

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]

ALPK2 Gene

alpha-kinase 2

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including epicardium morphogenesis; heart development; and negative regulation of Wnt signaling pathway involved in heart development. Acts upstream of or within regulation of gene expression. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PNCK Gene

pregnancy up-regulated nonubiquitous CaM kinase

PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008]

NAGK Gene

N-acetylglucosamine kinase

This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]

WNK2 Gene

WNK lysine deficient protein kinase 2

The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

WNK1 Gene

WNK lysine deficient protein kinase 1

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]

LOC100421508 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

LOC100421505 Gene

MAP/microtubule affinity-regulating kinase 4 pseudogene

PHKG2 Gene

phosphorylase kinase, gamma 2 (testis)

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

PHKG1 Gene

phosphorylase kinase, gamma 1 (muscle)

This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

MUSK Gene

muscle, skeletal, receptor tyrosine kinase

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

RAF1 Gene

Raf-1 proto-oncogene, serine/threonine kinase

This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]

STK24P1 Gene

serine/threonine kinase 24 pseudogene 1

LOC100419318 Gene

FAST kinase domains 3 pseudogene

KSR1 Gene

kinase suppressor of ras 1

Enables 14-3-3 protein binding activity and ATP binding activity. Involved in positive regulation of MAPK cascade. Located in cytosol; endoplasmic reticulum; and membrane. Part of protein-containing complex. Implicated in breast adenocarcinoma. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Mar 2025]

KSR2 Gene

kinase suppressor of ras 2

Enables protein serine/threonine kinase activity. Predicted to be involved in Ras protein signal transduction; calcium-mediated signaling; and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within positive regulation of MAPK cascade. Predicted to be located in membrane. Predicted to be active in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100287419 Gene

cyclin-dependent kinase 8 pseudogene

TAOK3 Gene

TAO kinase 3

The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016]

PRKAB2 Gene

protein kinase, AMP-activated, beta 2 non-catalytic subunit

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]

PRKAB1 Gene

protein kinase, AMP-activated, beta 1 non-catalytic subunit

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]

DDR2 Gene

discoidin domain receptor tyrosine kinase 2

This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]

DDR1 Gene

discoidin domain receptor tyrosine kinase 1

Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

LOC100418685 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418686 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418687 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

FN3K Gene

fructosamine 3 kinase

A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012]

MATK Gene

megakaryocyte-associated tyrosine kinase

The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

TEC Gene

tec protein tyrosine kinase

The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]

FN3KRP Gene

fructosamine 3 kinase related protein

A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

CDKN2B Gene

cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)

This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

CDKN2D Gene

cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)

The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]

LOC100421583 Gene

hormonally up-regulated Neu-associated kinase pseudogene

NME4 Gene

NME/NM23 nucleoside diphosphate kinase 4

The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]

NME6 Gene

NME/NM23 nucleoside diphosphate kinase 6

Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010]

NME1 Gene

NME/NM23 nucleoside diphosphate kinase 1

This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]

NME2 Gene

NME/NM23 nucleoside diphosphate kinase 2

Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010]

NME3 Gene

NME/NM23 nucleoside diphosphate kinase 3

Enables nucleoside diphosphate kinase activity. Involved in DNA repair; mitochondrial fusion; and nucleoside triphosphate biosynthetic process. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100421558 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

PKMYT1 Gene

protein kinase, membrane associated tyrosine/threonine 1

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

CHEK2P2 Gene

checkpoint kinase 2 pseudogene 2

CHEK2P1 Gene

checkpoint kinase 2 pseudogene 1

BLK Gene

BLK proto-oncogene, Src family tyrosine kinase

This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]

IRAK2 Gene

interleukin-1 receptor-associated kinase 2

IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]

IRAK3 Gene

interleukin-1 receptor-associated kinase 3

This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

IRAK1 Gene

interleukin-1 receptor-associated kinase 1

This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IRAK4 Gene

interleukin-1 receptor-associated kinase 4

This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

TNK2 Gene

tyrosine kinase, non-receptor, 2

This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

TNK1 Gene

tyrosine kinase, non-receptor, 1

The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

HGS Gene

hepatocyte growth factor-regulated tyrosine kinase substrate

The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]

LOC100421504 Gene

MAP/microtubule affinity-regulating kinase 4 pseudogene

TP53RK Gene

TP53 regulating kinase

Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cytoplasm and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 4. [provided by Alliance of Genome Resources, Mar 2025]

GAK Gene

cyclin G associated kinase

In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GK6P Gene

glycerol kinase 6 pseudogene

BTK Gene

Bruton agammaglobulinemia tyrosine kinase

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

DGKZP1 Gene

diacylglycerol kinase, zeta pseudogene 1

NEK10 Gene

NIMA-related kinase 10

Enables protein kinase activity. Involved in several processes, including mucociliary clearance; positive regulation of protein phosphorylation; and regulation of ERK1 and ERK2 cascade. Part of protein kinase complex. Implicated in primary ciliary dyskinesia 44. [provided by Alliance of Genome Resources, Mar 2025]

NEK11 Gene

NIMA-related kinase 11

This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]

ADK Gene

adenosine kinase

This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

LOC100419901 Gene

casein kinase 1, alpha 1 pseudogene

KALRN Gene

kalirin, RhoGEF kinase

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]

UCKL1 Gene

uridine-cytidine kinase 1-like 1

The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

IKBKB Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta

The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]

IKBKE Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon

IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]

DYRK1A Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A

This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]

DYRK1B Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B

This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

MADD Gene

MAP-kinase activating death domain

Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

RFK Gene

riboflavin kinase

Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]

ADCK4 Gene

aarF domain containing kinase 4

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

ADCK5 Gene

aarF domain containing kinase 5

Predicted to enable protein serine/threonine kinase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ADCK2 Gene

aarF domain containing kinase 2

Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in regulation of ubiquinone biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ADCK3 Gene

aarF domain containing kinase 3

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

ADCK1 Gene

aarF domain containing kinase 1

Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in negative regulation of mitochondrial fusion and positive regulation of cristae formation. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

PASK Gene

PAS domain containing serine/threonine kinase

This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

SIK1 Gene

salt-inducible kinase 1

This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]

SIK3 Gene

SIK family kinase 3

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in positive regulation of TORC1 signaling; positive regulation of TORC2 signaling; and protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SIK2 Gene

salt-inducible kinase 2

Enables ATP binding activity; magnesium ion binding activity; and protein kinase activity. Involved in intracellular signal transduction and protein autophosphorylation. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

NEK1 Gene

NIMA-related kinase 1

The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

AKAP14 Gene

A kinase (PRKA) anchor protein 14

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

AKAP12 Gene

A kinase (PRKA) anchor protein 12

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AKAP13 Gene

A kinase (PRKA) anchor protein 13

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]

AKAP10 Gene

A kinase (PRKA) anchor protein 10

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]

CKS1BP7 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 7

CKS1BP6 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 6

CKS1BP5 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 5

CKS1BP3 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 3

CKS1BP2 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 2

CKS1BP1 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 1

UHMK1 Gene

U2AF homology motif (UHM) kinase 1

The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

NUAK1 Gene

NUAK family, SNF1-like kinase, 1

Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation; regulation of cell adhesion; and regulation of cellular senescence. Located in cytoplasm; microtubule cytoskeleton; and nuclear lumen. Implicated in uterine fibroid. Biomarker of uterine fibroid. [provided by Alliance of Genome Resources, Mar 2025]

NUAK2 Gene

NUAK family, SNF1-like kinase, 2

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in several processes, including cellular response to glucose starvation; protein phosphorylation; and regulation of hippo signaling. Located in nuclear speck. Implicated in anencephaly. [provided by Alliance of Genome Resources, Mar 2025]

MERTK Gene

MER proto-oncogene, tyrosine kinase

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]

YES1 Gene

YES proto-oncogene 1, Src family tyrosine kinase

This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]

NEK4P1 Gene

NIMA-related kinase 4 pseudogene 1

LOC390877 Gene

adenylate kinase isoenzyme 1-like

PKDCC Gene

protein kinase domain containing, cytoplasmic

Enables non-membrane spanning protein tyrosine kinase activity. Involved in peptidyl-tyrosine phosphorylation and skeletal system development. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

NYAP1 Gene

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1

Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase/protein kinase B signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

NYAP2 Gene

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2

Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase/protein kinase B signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

MVK Gene

mevalonate kinase

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CDK5PS Gene

cyclin-dependent kinase 5 pseudogene

ALK Gene

anaplastic lymphoma receptor tyrosine kinase

This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]

AK4P1 Gene

adenylate kinase 4 pseudogene 1

AK4P3 Gene

adenylate kinase 4 pseudogene 3

Predicted to enable nucleobase-containing compound kinase activity and purine ribonucleoside triphosphate binding activity. Predicted to be involved in nucleotide metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

AK4P2 Gene

adenylate kinase 4 pseudogene 2

AK4P5 Gene

adenylate kinase 4 pseudogene 5

AK4P6 Gene

adenylate kinase 4 pseudogene 6

STK17B Gene

serine/threonine kinase 17b

Enables ATP binding activity and protein serine/threonine kinase activity. Involved in intracellular signal transduction; positive regulation of fibroblast apoptotic process; and protein phosphorylation. Located in Flemming body and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

STK17A Gene

serine/threonine kinase 17a

This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]

AURKAPS1 Gene

aurora kinase A pseudogene 1

AURKAPS2 Gene

aurora kinase A pseudogene 2

ROCK1P1 Gene

Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1

STKLD1 Gene

serine/threonine kinase-like domain containing 1

Predicted to enable protein serine/threonine kinase activity. [provided by Alliance of Genome Resources, Mar 2025]

LOC101928016 Gene

adenylate kinase isoenzyme 6 pseudogene

CAMK1 Gene

calcium/calmodulin-dependent protein kinase I

Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]

CAMK4 Gene

calcium/calmodulin-dependent protein kinase IV

The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]

CAMKV Gene

CaM kinase-like vesicle-associated

Predicted to enable calcium/calmodulin-dependent protein kinase activity and calmodulin binding activity. Predicted to be involved in signal transduction. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Predicted to be active in cytoplasm; glutamatergic synapse; and postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

STK40 Gene

serine/threonine kinase 40

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in regulation of MAPK cascade. Predicted to act upstream of or within several processes, including glycogen metabolic process; lung development; and respiratory system process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

KNDC1 Gene

kinase non-catalytic C-lobe domain (KIND) containing 1

The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]

FLT3 Gene

fms-related tyrosine kinase 3

This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]

SBK2 Gene

SH3 domain binding kinase family, member 2

Predicted to enable MAP kinase kinase activity. Predicted to be involved in MAPK cascade. [provided by Alliance of Genome Resources, Mar 2025]

SBK3 Gene

SH3 domain binding kinase family, member 3

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. [provided by Alliance of Genome Resources, Mar 2025]

TSSK6 Gene

testis-specific serine kinase 6

This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012]

SRC Gene

SRC proto-oncogene, non-receptor tyrosine kinase

This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

TSSK4 Gene

testis-specific serine kinase 4

This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

TSSK3 Gene

testis-specific serine kinase 3

This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008]

EIF2AK1 Gene

eukaryotic translation initiation factor 2-alpha kinase 1

The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

EIF2AK3 Gene

eukaryotic translation initiation factor 2-alpha kinase 3

The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]

EIF2AK2 Gene

eukaryotic translation initiation factor 2-alpha kinase 2

The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses. [provided by RefSeq, Jul 2021]

EIF2AK4 Gene

eukaryotic translation initiation factor 2 alpha kinase 4

This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]

MARK2P16 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 16

MARK2P17 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 17

MARK2P14 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 14

MARK2P15 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 15

MARK2P13 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 13

MARK2P10 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 10

MARK2P11 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 11

RYKP1 Gene

receptor-like tyrosine kinase pseudogene 1

NTRK1 Gene

neurotrophic tyrosine kinase, receptor, type 1

This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]

NTRK2 Gene

neurotrophic tyrosine kinase, receptor, type 2

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

NTRK3 Gene

neurotrophic tyrosine kinase, receptor, type 3

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

AKAP17A Gene

A kinase (PRKA) anchor protein 17A

This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010]

WEE1 Gene

WEE1 G2 checkpoint kinase

This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008]

AKAP4 Gene

A kinase (PRKA) anchor protein 4

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AKAP5 Gene

A kinase (PRKA) anchor protein 5

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]

AKAP6 Gene

A kinase (PRKA) anchor protein 6

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]

AKAP7 Gene

A kinase (PRKA) anchor protein 7

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]

AKAP1 Gene

A kinase (PRKA) anchor protein 1

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]

AKAP2 Gene

A kinase (PRKA) anchor protein 2

The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

AKAP3 Gene

A kinase (PRKA) anchor protein 3

This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]

AKAP8 Gene

A kinase (PRKA) anchor protein 8

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

AKAP9 Gene

A kinase (PRKA) anchor protein 9

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]

UCK1 Gene

uridine-cytidine kinase 1

This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]

UCK2 Gene

uridine-cytidine kinase 2

This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]

PIP5KL1 Gene

phosphatidylinositol-4-phosphate 5-kinase-like 1

PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009]

GUK1 Gene

guanylate kinase 1

The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

GUK2 Gene

guanylate kinase 2

ATM Gene

ATM serine/threonine kinase

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]

ATR Gene

ATR serine/threonine kinase

The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]

TAOK1 Gene

TAO kinase 1

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and kinase activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; negative regulation of microtubule depolymerization; and positive regulation of MAPK cascade. Located in microtubule cytoskeleton and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TAOK2 Gene

TAO kinase 2

Enables mitogen-activated protein kinase kinase binding activity; neuropilin binding activity; and protein serine/threonine kinase activity. Involved in several processes, including focal adhesion assembly; intracellular signal transduction; and positive regulation of MAPK cascade. Located in cytoplasmic vesicle; cytosol; and nuclear lumen. Part of receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

ERBB2 Gene

erb-b2 receptor tyrosine kinase 2

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

ERBB3 Gene

erb-b2 receptor tyrosine kinase 3

This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

ERBB4 Gene

erb-b2 receptor tyrosine kinase 4

This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

AAK1 Gene

AP2 associated kinase 1

This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020]

PRKAG1 Gene

protein kinase, AMP-activated, gamma 1 non-catalytic subunit

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PRKAG3 Gene

protein kinase, AMP-activated, gamma 3 non-catalytic subunit

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]

PRKAG2 Gene

protein kinase, AMP-activated, gamma 2 non-catalytic subunit

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]

NEK4P2 Gene

NIMA-related kinase 4 pseudogene 2

NEK4P3 Gene

NIMA-related kinase 4 pseudogene 3

POMK Gene

protein-O-mannose kinase

This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

DMPK Gene

dystrophia myotonica-protein kinase

The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]

PGK1P1 Gene

phosphoglycerate kinase 1, pseudogene 1

PGK1P2 Gene

phosphoglycerate kinase 1, pseudogene 2

GK3P Gene

glycerol kinase 3 pseudogene

Predicted to enable glycerol kinase activity. Predicted to be involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

TLK2P2 Gene

tousled-like kinase 2 pseudogene 2

ITK Gene

IL2-inducible T-cell kinase

This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]

LOC100271842 Gene

phosphatidylinositol 4-kinase type 2 beta pseudogene

LOC100130849 Gene

phosphorylase kinase, gamma 1 (muscle) pseudogene

AGK Gene

acylglycerol kinase

The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]

PIK3CA Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

PIK3CD Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]

PIK3CG Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]

LOC100420480 Gene

polo-like kinase 4 (Drosophila) pseudogene

PIK3C3 Gene

phosphatidylinositol 3-kinase, catalytic subunit type 3

Enables 1-phosphatidylinositol-3-kinase activity. Involved in several processes, including early endosome to late endosome transport; macroautophagy; and phosphatidylinositol-3-phosphate biosynthetic process. Acts upstream of or within autophagy and positive regulation of protein lipidation. Located in autolysosome; late endosome; and midbody. Part of phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Mar 2025]

MAK Gene

male germ cell-associated kinase

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

PHKBP1 Gene

phosphorylase kinase, beta pseudogene 1

PHKBP2 Gene

phosphorylase kinase, beta pseudogene 2

LOC100128939 Gene

pyruvate dehydrogenase kinase, isozyme 3 pseudogene

BMP2KL Gene

BMP2 inducible kinase-like, pseudogene

LOC105371179 Gene

proline-rich receptor-like protein kinase PERK2

PAK4 Gene

p21 protein (Cdc42/Rac)-activated kinase 4

PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PAK6 Gene

p21 protein (Cdc42/Rac)-activated kinase 6

This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

PAK7 Gene

p21 protein (Cdc42/Rac)-activated kinase 7

The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

PAK1 Gene

p21 protein (Cdc42/Rac)-activated kinase 1

This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]

PAK2 Gene

p21 protein (Cdc42/Rac)-activated kinase 2

The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]

PAK3 Gene

p21 protein (Cdc42/Rac)-activated kinase 3

The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017]

GLYCTK Gene

glycerate kinase

This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

GKAP1 Gene

G kinase anchoring protein 1

This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

FYN Gene

FYN proto-oncogene, Src family tyrosine kinase

This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]

CKB Gene

creatine kinase, brain

The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]

CKM Gene

creatine kinase, muscle

The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]

RPS6KC1 Gene

ribosomal protein S6 kinase, 52kDa, polypeptide 1

Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017]

MAPKAP1 Gene

mitogen-activated protein kinase associated protein 1

This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]

DOLK Gene

dolichol kinase

The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]

TYRO3P Gene

TYRO3P protein tyrosine kinase pseudogene

PKMP1 Gene

pyruvate kinase, muscle pseudogene 1

PKMP3 Gene

pyruvate kinase, muscle pseudogene 3

PKMP2 Gene

pyruvate kinase, muscle pseudogene 2

PKMP5 Gene

pyruvate kinase, muscle pseudogene 5

TAB3 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 3

The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

TAB2 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 2

The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

TAB1 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 1

The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

EEF2K Gene

eukaryotic elongation factor 2 kinase

This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008]

BUB1P1 Gene

BUB1 mitotic checkpoint serine/threonine kinase pseudogene 1

SGK1 Gene

serum/glucocorticoid regulated kinase 1

This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

LOC100421602 Gene

CDC42 binding protein kinase beta (DMPK-like) pseudogene

STYK1 Gene

serine/threonine/tyrosine kinase 1

Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]

TEK Gene

TEK tyrosine kinase, endothelial

This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

CDK1 Gene

cyclin-dependent kinase 1

The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2023]

CDK2 Gene

cyclin-dependent kinase 2

This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

CDK3 Gene

cyclin-dependent kinase 3

This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq, Jul 2008]

CDK4 Gene

cyclin-dependent kinase 4

The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]

CDK5 Gene

cyclin-dependent kinase 5

This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

CDK6 Gene

cyclin-dependent kinase 6

The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]

CDK7 Gene

cyclin-dependent kinase 7

The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]

CDK8 Gene

cyclin-dependent kinase 8

This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

CDK9 Gene

cyclin-dependent kinase 9

The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]

PRKCI Gene

protein kinase C, iota

This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008]

PRKCH Gene

protein kinase C, eta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]

PRKCA Gene

protein kinase C, alpha

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]

PRKCB Gene

protein kinase C, beta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PRKCE Gene

protein kinase C, epsilon

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]

PRKCD Gene

protein kinase C, delta

The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]

PRKCG Gene

protein kinase C, gamma

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

PRKCZ Gene

protein kinase C, zeta

Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PRKCQ Gene

protein kinase C, theta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]

SYK Gene

spleen tyrosine kinase

This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

PHKA1 Gene

phosphorylase kinase, alpha 1 (muscle)

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]

PHKA2 Gene

phosphorylase kinase, alpha 2 (liver)

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]

FGGY Gene

FGGY carbohydrate kinase domain containing

This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

ILK Gene

integrin-linked kinase

This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

FLT3LG Gene

fms-related tyrosine kinase 3 ligand

Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]

SNRK Gene

SNF related kinase

SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]

PI4K2B Gene

phosphatidylinositol 4-kinase type 2 beta

This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]

PI4K2A Gene

phosphatidylinositol 4-kinase type 2 alpha

Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

BRSK2 Gene

BR serine/threonine kinase 2

Enables several functions, including ATP binding activity; ATPase binding activity; and magnesium ion binding activity. Involved in several processes, including G2/M transition of mitotic cell cycle; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in centrosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

BRSK1 Gene

BR serine/threonine kinase 1

Enables magnesium ion binding activity and tau-protein kinase activity. Involved in mitotic G2 DNA damage checkpoint signaling and protein phosphorylation. Acts upstream of or within G2/M transition of mitotic cell cycle; peptidyl-serine phosphorylation; and response to UV. Located in cell junction; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC101929242 Gene

S-phase kinase-associated protein 1 pseudogene

DGUOK Gene

deoxyguanosine kinase

In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

AKAP8P1 Gene

A kinase (PRKA) anchor protein 8 pseudogene 1

PIK3AP1 Gene

phosphoinositide-3-kinase adaptor protein 1

Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; regulation of inflammatory response; and regulation of innate immune response. Predicted to be located in membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

LOC102723432 Gene

serine/threonine-protein kinase PAK 2 pseudogene

MOB3B Gene

MOB kinase activator 3B

The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008]

MOB3A Gene

MOB kinase activator 3A

Predicted to enable protein kinase activator activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

AKAP17BP Gene

A kinase (PRKA) anchor protein 17B, pseudogene

MARK3P1 Gene

MAP/microtubule affinity-regulating kinase 3 pseudogene 1

MARK3P3 Gene

MAP/microtubule affinity-regulating kinase 3 pseudogene 3

MARK3P2 Gene

MAP/microtubule affinity-regulating kinase 3 pseudogene 2

MNAT1 Gene

MNAT CDK-activating kinase assembly factor 1

The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

LOC100533853 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene

LOC100419851 Gene

protein serine kinase H1 pseudogene

CDK4PS Gene

cyclin-dependent kinase 4 pseudogene

STK26 Gene

serine/threonine protein kinase 26

The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

STK25 Gene

serine/threonine kinase 25

This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

STK24 Gene

serine/threonine kinase 24

This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

CDK5R2 Gene

cyclin-dependent kinase 5, regulatory subunit 2 (p39)

The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]

CDKN2C Gene

cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)

The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]

CDKN2A Gene

cyclin-dependent kinase inhibitor 2A

This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]

PI4KAP1 Gene

phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1

LOC100533950 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100533951 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

PIK3CB Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta

This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

CLK3P2 Gene

CDC-like kinase 3 pseudogene 2

NLK Gene

nemo-like kinase

Enables DNA-binding transcription factor binding activity; protein serine/threonine kinase activity; and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of TORC1 signaling; protein stabilization; and transforming growth factor beta receptor signaling pathway. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LOC100287072 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1 pseudogene

LOC101930123 Gene

eukaryotic elongation factor 2 kinase

CHEK2 Gene

checkpoint kinase 2

In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

CHEK1 Gene

checkpoint kinase 1

The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]

LOC100533755 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

LOC100288962 Gene

S-phase kinase-associated protein 1 pseudogene

LOC645163 Gene

phosphatidylinositol 4-kinase type 2 alpha pseudogene

LOC105375252 Gene

serine-threonine kinase receptor-associated protein pseudogene

RFKP2 Gene

riboflavin kinase pseudogene 2

FRK Gene

fyn-related Src family tyrosine kinase

The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]

LOC344382 Gene

serine/threonine kinase receptor associated protein pseudogene

LOC100420576 Gene

death-associated protein kinase 1 pseudogene

FLT1P1 Gene

fms-related tyrosine kinase 1 pseudogene 1

PIM2 Gene

Pim-2 proto-oncogene, serine/threonine kinase

This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009]

PDPK1 Gene

3-phosphoinositide dependent protein kinase 1

Enables 3-phosphoinositide-dependent protein kinase activity; phospholipase activator activity; and phospholipase binding activity. Involved in several processes, including cell surface receptor signaling pathway; regulation of protein kinase activity; and regulation of signal transduction. Acts upstream of or within intracellular signal transduction. Located in cell projection; cytosol; and plasma membrane. Implicated in prostate cancer. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

STK33P1 Gene

serine/threonine kinase 33 pseudogene 1

LTK Gene

leukocyte receptor tyrosine kinase

The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

PDIK1L Gene

PDLIM1 interacting kinase 1 like

Predicted to enable eukaryotic translation initiation factor 2alpha kinase activity. Predicted to be involved in regulation of translational initiation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PTK2B Gene

protein tyrosine kinase 2 beta

This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CDC42BPG Gene

CDC42 binding protein kinase gamma (DMPK-like)

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cell leading edge; centriolar satellite; and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

CDC42BPA Gene

CDC42 binding protein kinase alpha (DMPK-like)

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]

CDC42BPB Gene

CDC42 binding protein kinase beta (DMPK-like)

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]

CDKL5 Gene

cyclin-dependent kinase-like 5

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

CDKL4 Gene

cyclin-dependent kinase-like 4

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in regulation of cell cycle. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CDKL3 Gene

cyclin-dependent kinase-like 3

The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

BMPR2 Gene

bone morphogenetic protein receptor, type II (serine/threonine kinase)

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

KDR Gene

kinase insert domain receptor

Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]

CASKP1 Gene

calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1

LOC139952 Gene

LIM domain kinase 2 pseudogene

ARAF Gene

A-Raf proto-oncogene, serine/threonine kinase

Enables protein serine/threonine kinase activity. Involved in negative regulation of apoptotic process; regulation of TOR signaling; and regulation of protein metabolic process. Predicted to be active in cytosol and mitochondrion. Biomarker of high grade glioma. [provided by Alliance of Genome Resources, Mar 2025]

CSK Gene

c-src tyrosine kinase

The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]

FASTKD5 Gene

FAST kinase domains 5

Enables rRNA binding activity. Involved in mitochondrial RNA processing. Located in mitochondrial nucleoid and ribonucleoprotein granule. [provided by Alliance of Genome Resources, Mar 2025]

FASTKD2 Gene

FAST kinase domains 2

This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]

FASTKD3 Gene

FAST kinase domains 3

This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

FASTKD1 Gene

FAST kinase domains 1

Enables RNA binding activity. Involved in mitochondrial RNA metabolic process and regulation of mitochondrial mRNA stability. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

MAPK7 Gene

mitogen-activated protein kinase 7

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

CHEK2P3 Gene

checkpoint kinase 2 pseudogene 3

CINP Gene

cyclin-dependent kinase 2 interacting protein

The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

DOK1 Gene

docking protein 1, 62kDa (downstream of tyrosine kinase 1)

The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

TTK Gene

TTK protein kinase

This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SRPK1 Gene

SRSF protein kinase 1

This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]

SRPK3 Gene

SRSF protein kinase 3

This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

SRPK2 Gene

SRSF protein kinase 2

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in several processes, including R-loop processing; peptidyl-serine phosphorylation; and regulation of viral genome replication. Located in chromatin; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025]

TLK1P1 Gene

tousled-like kinase 1 pseudogene 1

LOC100533629 Gene

FAST kinase domains 1 pseudogene

GK4P Gene

glycerol kinase 4 pseudogene

CHUK Gene

conserved helix-loop-helix ubiquitous kinase

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]

TSSK5P Gene

testis-specific serine kinase 5, pseudogene

LOC102724064 Gene

proline-rich receptor-like protein kinase PERK13

STK39 Gene

serine threonine kinase 39

This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]

CKBP1 Gene

creatine kinase B pseudogene 1

PIP5K1C Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, gamma

This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]

PIP5K1B Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, beta

Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Mar 2025]

PIP5K1A Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, alpha

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and kinase binding activity. Involved in several processes, including activation of GTPase activity; focal adhesion assembly; and ruffle assembly. Located in several cellular components, including lamellipodium; nucleus; and ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025]

AK3P2 Gene

adenylate kinase 3 pseudogene 2

RIPK4 Gene

receptor-interacting serine-threonine kinase 4

The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]

GK2 Gene

glycerol kinase 2

Predicted to enable glycerol kinase activity. Predicted to be involved in several processes, including glycerol-3-phosphate biosynthetic process; sperm mitochondrial sheath assembly; and triglyceride metabolic process. Located in sperm midpiece. [provided by Alliance of Genome Resources, Mar 2025]

GK5 Gene

glycerol kinase 5 (putative)

Predicted to enable glycerol kinase activity. Predicted to be involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

NADK Gene

NAD kinase

NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008]

LOC100421511 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

PIM3 Gene

Pim-3 proto-oncogene, serine/threonine kinase

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]

PIM1 Gene

Pim-1 proto-oncogene, serine/threonine kinase

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]

TYROBP Gene

TYRO protein tyrosine kinase binding protein

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]

AK7 Gene

adenylate kinase 7

This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]

AK6 Gene

adenylate kinase 6

This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

AK5 Gene

adenylate kinase 5

This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

PANK1 Gene

pantothenate kinase 1

This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]

PANK3 Gene

pantothenate kinase 3

This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]

PANK2 Gene

pantothenate kinase 2

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

PANK4 Gene

pantothenate kinase 4

This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]

PI4KB Gene

phosphatidylinositol 4-kinase, catalytic, beta

Enables 1-phosphatidylinositol 4-kinase activity and 14-3-3 protein binding activity. Involved in inner ear development. Acts upstream of or within lysosome organization. Located in Golgi membrane. Implicated in autosomal dominant nonsyndromic deafness 87. [provided by Alliance of Genome Resources, Mar 2025]

PI4KA Gene

phosphatidylinositol 4-kinase, catalytic, alpha

This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]

PRKRIRP10 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 10

LOC100419668 Gene

protein kinase C, eta pseudogene

AK3P6 Gene

adenylate kinase 3 pseudogene 6

AK3P4 Gene

adenylate kinase 3 pseudogene 4

AK3P5 Gene

adenylate kinase 3 pseudogene 5

AK3P3 Gene

adenylate kinase 3 pseudogene 3

IKBKGP1 Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1

LOC100289320 Gene

NME/NM23 nucleoside diphosphate kinase 2 pseudogene

GRK2 Gene

G protein-coupled receptor kinase 2

This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]

RACK1 Gene

receptor for activated C kinase 1

Enables several functions, including cyclin binding activity; enzyme binding activity; and protein domain specific binding activity. Involved in several processes, including regulation of protein metabolic process; regulation of signal transduction; and regulation of vesicle-mediated transport. Located in several cellular components, including midbody; perinuclear region of cytoplasm; and phagocytic cup. Part of IRE1-RACK1-PP2A complex. [provided by Alliance of Genome Resources, Mar 2025]

DIPK1B Gene

divergent protein kinase domain 1B

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

DIPK1A Gene

divergent protein kinase domain 1A

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

PRAG1 Gene

PEAK1 related, kinase-activating pseudokinase 1

This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]

PAK5 Gene

p21 (RAC1) activated kinase 5

The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

DIPK2A Gene

divergent protein kinase domain 2A

Involved in several processes, including cardiac muscle cell proliferation; negative regulation of smooth muscle cell apoptotic process; and positive regulation of protein kinase C activity. Located in Golgi membrane and extracellular space. Part of COPI vesicle coat. [provided by Alliance of Genome Resources, Mar 2025]

FCSK Gene

fucose kinase

The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]

GRK3 Gene

G protein-coupled receptor kinase 3

The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]

HASPIN Gene

histone H3 associated protein kinase

Enables ATP binding activity and histone H3T3 kinase activity. Involved in several processes, including mitotic sister chromatid cohesion; mitotic spindle assembly checkpoint signaling; and protein localization to chromosome, centromeric region. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance of Genome Resources, Mar 2025]

CSNKA2IP Gene

casein kinase 2 subunit alpha' interacting protein

Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Mar 2025]

GASK1B Gene

golgi associated kinase 1B

Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

GK3 Gene

glycerol kinase 3

Predicted to enable glycerol kinase activity. Predicted to be involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CILK1 Gene

ciliogenesis associated kinase 1

Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

HYCC2 Gene

hyccin PI4KA lipid kinase complex subunit 2

Predicted to be involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Predicted to be located in cytosol and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

DIPK2B Gene

divergent protein kinase domain 2B

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

GASK1A Gene

golgi associated kinase 1A

Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

HYCC1 Gene

hyccin PI4KA lipid kinase complex subunit 1

The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]

DIPK1C Gene

divergent protein kinase domain 1C

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

AKAIN1 Gene

A-kinase anchor inhibitor 1

Enables protein kinase A binding activity. Involved in protein localization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

RSKR Gene

ribosomal protein S6 kinase related

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling. [provided by Alliance of Genome Resources, Mar 2025]

CSNK2A2IP Gene

casein kinase 2 subunit alpha' interacting protein

Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Mar 2025]

AKAP19 Gene

A-kinase anchoring protein 19

LMTK1 Gene

lemur tail kinase 1

The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

CPHL1P Gene

ceruloplasmin and hephaestin-like 1 pseudogene

CDAGS Gene

Craniosynostosis, anal anomalies, and porokeratosis syndrome

CRTAM Gene

cytotoxic and regulatory T cell molecule

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]

LOC100420707 Gene

DDB1 and CUL4 associated factor 6 pseudogene

OPA3 Gene

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

AAGAB Gene

alpha- and gamma-adaptin binding protein

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

PHACTR4 Gene

phosphatase and actin regulator 4

This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PHACTR1 Gene

phosphatase and actin regulator 1

The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

PHACTR3 Gene

phosphatase and actin regulator 3

This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PHACTR2 Gene

phosphatase and actin regulator 2

Predicted to enable actin binding activity. Predicted to be involved in actin cytoskeleton organization. Predicted to be located in plasma membrane and platelet alpha granule membrane. Implicated in Parkinson's disease and multiple sclerosis. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]

ERGIC2 Gene

ERGIC and golgi 2

ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]

ERGIC3 Gene

ERGIC and golgi 3

Involved in endoplasmic reticulum to Golgi vesicle-mediated transport and positive regulation of intracellular protein transport. Located in membrane. Part of retrograde transporter complex, Golgi to ER. Biomarker of lung adenocarcinoma. [provided by Alliance of Genome Resources, Mar 2025]

FBXL14 Gene

F-box and leucine-rich repeat protein 14

Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL19 Gene

F-box and leucine-rich repeat protein 19

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

MZB1 Gene

marginal zone B and B1 cell-specific protein

Involved in positive regulation of cell population proliferation. Located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

LOC102724971 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

HN1 Gene

hematological and neurological expressed 1

Located in cytosol; intercellular bridge; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

DLEC1 Gene

deleted in lung and esophageal cancer 1

The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016]

NACC2 Gene

NACC family member 2, BEN and BTB (POZ) domain containing

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage; and protein homooligomerization. Located in chromatin; mitochondrion; and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

NACC1 Gene

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing

This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]

SBSPON Gene

somatomedin B and thrombospondin, type 1 domain containing

Predicted to be an extracellular matrix structural constituent. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

WASIR1 Gene

WASH and IL9R antisense RNA 1

WASIR2 Gene

WASH and IL9R antisense RNA 2

ANKFY1 Gene

ankyrin repeat and FYVE domain containing 1

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

OBSCN Gene

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

SORBS1 Gene

sorbin and SH3 domain containing 1

This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

SORBS3 Gene

sorbin and SH3 domain containing 3

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

SORBS2 Gene

sorbin and SH3 domain containing 2

Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ZSCAN5CP Gene

zinc finger and SCAN domain containing 5C, pseudogene

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CEND1 Gene

cell cycle exit and neuronal differentiation 1

The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]

ZBTB7A Gene

zinc finger and BTB domain containing 7A

Enables several functions, including SMAD binding activity; nuclear androgen receptor binding activity; and transcription corepressor binding activity. Involved in several processes, including erythrocyte maturation; negative regulation of signal transduction; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB7C Gene

zinc finger and BTB domain containing 7C

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of cell population proliferation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB7B Gene

zinc finger and BTB domain containing 7B

This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

SMAN1 Gene

survival of motor and autonomic neurons 1

ANKS1B Gene

ankyrin repeat and sterile alpha motif domain containing 1B

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

ANKS1A Gene

ankyrin repeat and sterile alpha motif domain containing 1A

Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

OPALIN Gene

oligodendrocytic myelin paranodal and inner loop protein

Predicted to be involved in regulation of oligodendrocyte differentiation. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

SHANK3 Gene

SH3 and multiple ankyrin repeat domains 3

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]

SHANK2 Gene

SH3 and multiple ankyrin repeat domains 2

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SHANK1 Gene

SH3 and multiple ankyrin repeat domains 1

This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]

SAMSN1 Gene

SAM domain, SH3 domain and nuclear localization signals 1

SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]

LOC100421259 Gene

zinc finger and BTB domain containing 14 pseudogene

SKA1 Gene

spindle and kinetochore associated complex subunit 1

Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore; negative regulation of mitotic spindle assembly checkpoint signaling; and positive regulation of microtubule polymerization. Located in intercellular bridge; kinetochore; and microtubule cytoskeleton. Part of SKA complex. [provided by Alliance of Genome Resources, Mar 2025]

SKA3 Gene

spindle and kinetochore associated complex subunit 3

This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

SKA2 Gene

spindle and kinetochore associated complex subunit 2

Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore and regulation of microtubule polymerization or depolymerization. Located in spindle microtubule. Part of SKA complex. [provided by Alliance of Genome Resources, Mar 2025]

HN1L Gene

hematological and neurological expressed 1-like

Involved in endocytosis involved in viral entry into host cell and regulation of calcium-mediated signaling. Located in cytosol; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CDADC1 Gene

cytidine and dCMP deaminase domain containing 1

Enables several functions, including cytidine deaminase activity; importin-alpha family protein binding activity; and protein homodimerization activity. Involved in DNA cytosine deamination and cytidine deamination. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LOC100420832 Gene

cysteine and glycine-rich protein 2 pseudogene

RIN1 Gene

Ras and Rab interactor 1

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within associative learning; memory; and negative regulation of synaptic plasticity. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

RIN3 Gene

Ras and Rab interactor 3

Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

RIN2 Gene

Ras and Rab interactor 2

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

LOC340268 Gene

C3 and PZP-like, alpha-2-macroglobulin domain containing 8 pseudogene

LOC102724726 Gene

coxsackievirus and adenovirus receptor-like

TMUB1 Gene

transmembrane and ubiquitin-like domain containing 1

Involved in ERAD pathway. Predicted to be located in several cellular components, including centrosome; postsynaptic membrane; and recycling endosome. Predicted to be active in postsynaptic recycling endosome membrane. [provided by Alliance of Genome Resources, Mar 2025]

TMUB2 Gene

transmembrane and ubiquitin-like domain containing 2

Predicted to be involved in ERAD pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

RNGTT Gene

RNA guanylyltransferase and 5'-phosphatase

Enables inorganic triphosphate phosphatase activity and mRNA guanylyltransferase activity. Involved in 7-methylguanosine mRNA capping. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PDX1 Gene

pancreatic and duodenal homeobox 1

The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]

PAQR9 Gene

progestin and adipoQ receptor family member IX

Predicted to enable signaling receptor activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

EFCC1 Gene

EF-hand and coiled-coil domain containing 1

Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

SMU1 Gene

smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)

Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Mar 2025]

RFWD2P1 Gene

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene 1

ANKDD1A Gene

ankyrin repeat and death domain containing 1A

Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

ANKDD1B Gene

ankyrin repeat and death domain containing 1B

Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

NMI Gene

N-myc (and STAT) interactor

NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008]

LOC101060089 Gene

cleavage and polyadenylation specificity factor subunit 5-like

CFAP126 Gene

cilia and flagella associated protein 126

Predicted to be involved in cilium organization and flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

RFFL Gene

ring finger and FYVE-like domain containing E3 ubiquitin protein ligase

Enables enzyme binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of cysteine-type endopeptidase activity; negative regulation of signal transduction; and protein K48-linked ubiquitination. Located in endosome membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CPSF3L Gene

cleavage and polyadenylation specific factor 3-like

The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

CALCOCO1 Gene

calcium binding and coiled-coil domain 1

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; beta-catenin binding activity; and nuclear receptor coactivator activity. Involved in positive regulation of DNA-templated transcription and positive regulation of gene expression. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CALCOCO2 Gene

calcium binding and coiled-coil domain 2

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

FSD1L Gene

fibronectin type III and SPRY domain containing 1-like

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

DDA1 Gene

DET1 and DDB1 associated 1

Involved in protein polyubiquitination. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

HAND2 Gene

heart and neural crest derivatives expressed 2

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]

FCHSD1 Gene

FCH and double SH3 domains 1

Predicted to enable lipid binding activity. Predicted to be involved in neuromuscular synaptic transmission and positive regulation of actin filament polymerization. Predicted to act upstream of or within several processes, including import into nucleus; inflammatory response; and response to hydrogen peroxide. Predicted to be located in cuticular plate. Predicted to be part of protein-containing complex. Predicted to be active in cytosol; neuromuscular junction; and recycling endosome. [provided by Alliance of Genome Resources, Mar 2025]

FCHSD2 Gene

FCH and double SH3 domains 2

Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in clathrin-dependent endocytosis and positive regulation of Arp2/3 complex-mediated actin nucleation. Located in clathrin-coated pit and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

AMMECR1 Gene

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

CXADRP3 Gene

coxsackie virus and adenovirus receptor pseudogene 3

TPTE2 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2

TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]

TMCC1P1 Gene

transmembrane and coiled-coil domain family 1 pseudogene 1

RLTPR Gene

RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

TMTC2 Gene

transmembrane and tetratricopeptide repeat containing 2

The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

DMRT1 Gene

doublesex and mab-3 related transcription factor 1

This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]

DMRT2 Gene

doublesex and mab-3 related transcription factor 2

The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]

DMRT3 Gene

doublesex and mab-3 related transcription factor 3

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in male sex differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including adult walking behavior; regulation of odontogenesis of dentin-containing tooth; and ventral spinal cord interneuron specification. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CRADD Gene

CASP2 and RIPK1 domain containing adaptor with death domain

This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

HPPD Gene

Hypertelorism, preauricular sinus, punctal pits, and deafness

AGAP1 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

AGAP2 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

AGAP3 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]

AGAP4 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 4

Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Mar 2025]

AGAP5 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 5

Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Mar 2025]

AGAP6 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 6

Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Mar 2025]

AGAP9 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 9

Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Mar 2025]

DRAIC Gene

downregulated RNA in cancer, inhibitor of cell invasion and migration

HACE1 Gene

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

RUSC2 Gene

RUN and SH3 domain containing 2

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

RUSC1 Gene

RUN and SH3 domain containing 1

Predicted to enable actin binding activity. Involved in protein polyubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

LZIC Gene

leucine zipper and CTNNBIP1 domain containing

Predicted to enable beta-catenin binding activity. [provided by Alliance of Genome Resources, Mar 2025]

KBTBD7 Gene

kelch repeat and BTB (POZ) domain containing 7

The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]

KBTBD4 Gene

kelch repeat and BTB (POZ) domain containing 4

KBTBD3 Gene

kelch repeat and BTB (POZ) domain containing 3

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

KBTBD2 Gene

kelch repeat and BTB (POZ) domain containing 2

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein K48-linked ubiquitination and regulation of cellular response to insulin stimulus. Is active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

KBTBD8 Gene

kelch repeat and BTB (POZ) domain containing 8

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC126860 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

TICRR Gene

TOPBP1-interacting checkpoint and replication regulator

Enables chromatin binding activity. Involved in regulation of DNA-templated DNA replication initiation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

BROX Gene

BRO1 domain and CAAX motif containing

Involved in mitotic nuclear membrane reassembly. Located in nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

ITGB2 Gene

integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)

This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

CFAP69 Gene

cilia and flagella associated protein 69

Acts upstream of or within sperm axoneme assembly. Located in cytoplasm and sperm midpiece. Implicated in spermatogenic failure 24. [provided by Alliance of Genome Resources, Mar 2025]

CFAP61 Gene

cilia and flagella associated protein 61

Involved in sperm flagellum assembly. Predicted to be located in radial spoke stalk and sperm flagellum. Implicated in spermatogenic failure 84. [provided by Alliance of Genome Resources, Mar 2025]

VSTM5 Gene

V-set and transmembrane domain containing 5

Predicted to be involved in several processes, including filopodium assembly; positive regulation of excitatory synapse assembly; and protein homooligomerization. Predicted to be located in membrane. Predicted to be active in axon; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

VSTM4 Gene

V-set and transmembrane domain containing 4

Predicted to act upstream of or within several processes, including endothelial cell proliferation; retina blood vessel maintenance; and vasculature development. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

VSTM1 Gene

V-set and transmembrane domain containing 1

Predicted to enable cytokine activity. Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in extracellular space and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

GADD45A Gene

growth arrest and DNA-damage-inducible, alpha

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]

GADD45B Gene

growth arrest and DNA-damage-inducible, beta

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]

GADD45G Gene

growth arrest and DNA-damage-inducible, gamma

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]

ZBTB45P2 Gene

zinc finger and BTB domain containing 45 pseudogene 2

ZBTB45P1 Gene

zinc finger and BTB domain containing 45 pseudogene 1

HERC1 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

HERC3 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 3

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

HERC2 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

HERC5 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 5

This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The protein also acts as a modulator of the antiviral immune response. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Aug 2021]

HERC4 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 4

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

HERC6 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 6

HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

AGGF1P10 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 10

FANK1 Gene

fibronectin type III and ankyrin repeat domains 1

Involved in regulation of DNA-templated transcription and regulation of apoptotic process. Located in chromatin; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ANKMY1 Gene

ankyrin repeat and MYND domain containing 1

Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

ANKMY2 Gene

ankyrin repeat and MYND domain containing 2

Predicted to enable enzyme binding activity and metal ion binding activity. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Mar 2025]

AARD Gene

alanine and arginine rich domain containing protein

Predicted to act upstream of or within response to testosterone. [provided by Alliance of Genome Resources, Mar 2025]

LOC100422352 Gene

transmembrane and tetratricopeptide repeat containing 1 pseudogene

RSF1 Gene

remodeling and spacing factor 1

This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011]

LOC100130044 Gene

cilia and flagella associated protein 69 pseudogene

CFAP47 Gene

cilia and flagella associated protein 47

While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]

CFAP44 Gene

cilia and flagella associated protein 44

Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Mar 2025]

FBXL20 Gene

F-box and leucine-rich repeat protein 20

Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL21 Gene

F-box and leucine-rich repeat protein 21 (gene/pseudogene)

This locus represents a transcribed pseudogene that is related to genes encoding members of the F-box family of proteins. [provided by RefSeq, Nov 2017]

FBXL22 Gene

F-box and leucine-rich repeat protein 22

This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]

LOC100419763 Gene

zinc finger with KRAB and SCAN domains 8 pseudogene

CXADR Gene

coxsackie virus and adenovirus receptor

The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]

MNDEC Gene

Microtia with nasolacrimal duct imperforation and eye coloboma

INF2 Gene

inverted formin, FH2 and WH2 domain containing

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]

PATE4 Gene

prostate and testis expressed 4

Enables acetylcholine receptor regulator activity. Involved in regulation of neurotransmitter receptor activity. Located in acrosomal vesicle and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

PHLPP1 Gene

PH domain and leucine rich repeat protein phosphatase 1

This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]

DIS3 Gene

DIS3 exosome endoribonuclease and 3'-5' exoribonuclease

Enables 3'-5'-RNA exonuclease activity; endonuclease activity; and guanyl-nucleotide exchange factor activity. Involved in CUT catabolic process; RNA processing; and rRNA catabolic process. Located in cytosol and nucleoplasm. Part of nuclear exosome (RNase complex). [provided by Alliance of Genome Resources, Mar 2025]

ANKS4B Gene

ankyrin repeat and sterile alpha motif domain containing 4B

Involved in brush border assembly; protein localization to microvillus; and protein-containing complex assembly. Located in brush border and microvillus. [provided by Alliance of Genome Resources, Mar 2025]

SKA2P1 Gene

spindle and kinetochore associated complex subunit 2 pseudogene 1

IGSF6-DREV1 Gene

region containing immunoglobulin superfamily, member 6 and DREV1

SNED1 Gene

sushi, nidogen and EGF-like domains 1

Predicted to enable Notch binding activity. Predicted to be involved in cell-matrix adhesion. Located in extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

MLSM7 Gene

Myelodysplasia and leukemia syndrome with monosomy 7

TCEANC2 Gene

transcription elongation factor A (SII) N-terminal and central domain containing 2

Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

GPKOW Gene

G patch domain and KOW motifs

This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]

CUZD1 Gene

CUB and zona pellucida-like domains 1

Predicted to be involved in trypsinogen activation. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100288437 Gene

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene

CCL18 Gene

chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)

This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014]

STAT5B Gene

signal transducer and activator of transcription 5B

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]

STAT5A Gene

signal transducer and activator of transcription 5A

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

RASGRP2 Gene

RAS guanyl releasing protein 2 (calcium and DAG-regulated)

The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

RASGRP3 Gene

RAS guanyl releasing protein 3 (calcium and DAG-regulated)

The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017]

RASGRP1 Gene

RAS guanyl releasing protein 1 (calcium and DAG-regulated)

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

LOC100421197 Gene

zinc finger and BTB domain containing 10 pseudogene

LOC102723312 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene

ANKFN1 Gene

ankyrin-repeat and fibronectin type III domain containing 1

Predicted to be involved in establishment of mitotic spindle orientation and regulation of establishment of bipolar cell polarity. Predicted to act upstream of or within behavioral fear response; equilibrioception; and locomotor rhythm. Predicted to be active in spindle. [provided by Alliance of Genome Resources, Mar 2025]

POROK2 Gene

Porokeratosis, palmar, plantar, and disseminated 1

LIMCH1 Gene

LIM and calponin homology domains 1

Enables myosin II head/neck binding activity. Involved in several processes, including cytoplasmic actin-based contraction involved in cell motility; positive regulation of stress fiber assembly; and regulation of focal adhesion assembly. Located in myosin II complex and stress fiber. [provided by Alliance of Genome Resources, Mar 2025]

BAHCC1 Gene

BAH domain and coiled-coil containing 1

Predicted to enable chromatin binding activity. Predicted to act upstream of or within chromatin organization; locomotory behavior; and neuron differentiation. [provided by Alliance of Genome Resources, Mar 2025]

WWC2 Gene

WW and C2 domain containing 2

This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]

MIEN1 Gene

migration and invasion enhancer 1

Involved in negative regulation of apoptotic process; positive regulation of cell migration; and positive regulation of filopodium assembly. Located in cytoplasmic side of plasma membrane and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

LOC100862682 Gene

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing pseudogene

TMEFF1 Gene

transmembrane protein with EGF-like and two follistatin-like domains 1

Enables receptor ligand inhibitor activity. Involved in negative regulation of viral entry into host cell. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TMEFF2 Gene

transmembrane protein with EGF-like and two follistatin-like domains 2

This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

PROSER1 Gene

proline and serine rich 1

This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]

PROSER2 Gene

proline and serine rich 2

PROSER3 Gene

proline and serine rich 3

Located in centrosome. [provided by Alliance of Genome Resources, Mar 2025]

SARM1 Gene

sterile alpha and TIR motif containing 1

Enables NAD+ nucleosidase activity; NAD+ nucleotidase, cyclic ADP-ribose generating; and identical protein binding activity. Involved in NAD catabolic process and response to axon injury. Is active in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CVMRF Gene

cubitus valgus with mental retardation and unusual facies

PRIMPOL Gene

primase and polymerase (DNA-directed)

This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

EGFEM1P Gene

EGF-like and EMI domain containing 1, pseudogene

Predicted to enable scavenger receptor activity. Predicted to be involved in vesicle-mediated transport. [provided by Alliance of Genome Resources, Mar 2025]

LIMS3L Gene

LIM and senescent cell antigen-like domains 3-like

Predicted to enable metal ion binding activity. Predicted to be located in cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100419574 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2 pseudogene

SIGIRR Gene

single immunoglobulin and toll-interleukin 1 receptor (TIR) domain

Involved in negative regulation of Toll signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ELMSAN1 Gene

ELM2 and Myb/SANT-like domain containing 1

Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

AGGF1 Gene

angiogenic factor with G patch and FHA domains 1

This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]

SLC47A2 Gene

solute carrier family 47 (multidrug and toxin extrusion), member 2

This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

SLC47A1 Gene

solute carrier family 47 (multidrug and toxin extrusion), member 1

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]

ABTB1 Gene

ankyrin repeat and BTB (POZ) domain containing 1

This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

ABTB2 Gene

ankyrin repeat and BTB (POZ) domain containing 2

Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance. [provided by Alliance of Genome Resources, Mar 2025]

DCAF7 Gene

DDB1 and CUL4 associated factor 7

This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

DCAF6 Gene

DDB1 and CUL4 associated factor 6

The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding protein 2 (DDB2) may act as tumor promoters and tumor suppressors, respectively, by regulating the level of androgen receptor in prostate tissues. In addition, this protein can act with glucocorticoid receptor to promote human papillomavirus gene expression. [provided by RefSeq, Mar 2017]

DCAF5 Gene

DDB1 and CUL4 associated factor 5

Predicted to be involved in negative regulation of fatty acid biosynthetic process. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

DCAF4 Gene

DDB1 and CUL4 associated factor 4

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

DCAF8 Gene

DDB1 and CUL4 associated factor 8

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

RBCK1 Gene

RanBP-type and C3HC4-type zinc finger containing 1

Enables several functions, including protein sequestering activity; transcription coactivator activity; and ubiquitin binding activity. Involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; protein linear polyubiquitination; and regulation of DNA-binding transcription factor activity. Part of LUBAC complex. Implicated in glycogen storage disease. [provided by Alliance of Genome Resources, Mar 2025]

LOC101930027 Gene

FERM and PDZ domain-containing protein 2-like

PAXBP1 Gene

PAX3 and PAX7 binding protein 1

Predicted to enable DNA binding activity and histone methyltransferase binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myoblast proliferation and regulation of skeletal muscle satellite cell proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

BRWD3 Gene

bromodomain and WD repeat domain containing 3

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]

BRWD1 Gene

bromodomain and WD repeat domain containing 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

ZSCAN18 Gene

zinc finger and SCAN domain containing 18

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN10 Gene

zinc finger and SCAN domain containing 10

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN12 Gene

zinc finger and SCAN domain containing 12

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN16 Gene

zinc finger and SCAN domain containing 16

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LRRIQ3 Gene

leucine-rich repeats and IQ motif containing 3

CCAR1 Gene

cell division cycle and apoptosis regulator 1

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; nuclear receptor coactivator activity; and transcription corepressor activity. Involved in positive regulation of cell migration and positive regulation of cell population proliferation. Acts upstream of or within positive regulation of apoptotic process. Located in nuclear envelope lumen. [provided by Alliance of Genome Resources, Mar 2025]

CCAR2 Gene

cell cycle and apoptosis regulator 2

Enables RNA polymerase II complex binding activity and enzyme inhibitor activity. Involved in several processes, including mitochondrial fragmentation involved in apoptotic process; regulation of primary metabolic process; and regulation of signal transduction. Located in several cellular components, including mitochondrial matrix; nucleoplasm; and spindle. Part of DBIRD complex. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB8A Gene

zinc finger and BTB domain containing 8A

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II-specific DNA-binding transcription factor binding activity; and transcription coactivator binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB8B Gene

zinc finger and BTB domain containing 8B

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

AMMEC Gene

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

RCBTB2P1 Gene

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1

CPSF4L Gene

cleavage and polyadenylation specific factor 4-like

Predicted to enable RNA binding activity and metal ion binding activity. Predicted to be involved in mRNA 3'-end processing. Predicted to be located in nucleus. Predicted to be part of mRNA cleavage and polyadenylation specificity factor complex. [provided by Alliance of Genome Resources, Mar 2025]

BHMG1 Gene

basic helix-loop-helix and HMG box domain containing 1

Predicted to enable DNA binding activity and protein dimerization activity. Predicted to be involved in several processes, including activation of meiosis; cellular response to retinoic acid; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

PKHD1L1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Mar 2025]

ASB9P1 Gene

ankyrin repeat and SOCS box containing 9 pseudogene 1

UHRF1 Gene

ubiquitin-like with PHD and ring finger domains 1

This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]

UHRF2 Gene

ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase

This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]

DSCC1 Gene

DNA replication and sister chromatid cohesion 1

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

LOC100130171 Gene

hematological and neurological expressed 1 pseudogene

FHL2 Gene

four and a half LIM domains 2

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2016]

FHL3 Gene

four and a half LIM domains 3

The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

FHL1 Gene

four and a half LIM domains 1

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

FATE1 Gene

fetal and adult testis expressed 1

This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation. [provided by RefSeq, Jan 2010]

ZNRF4 Gene

zinc and ring finger 4

Enables ubiquitin protein ligase activity. Involved in negative regulation of nucleotide-binding activity oligomerization domain containing 2 signaling pathway and proteasome-mediated ubiquitin-dependent protein catabolic process. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

ZNRF1 Gene

zinc and ring finger 1, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]

ZNRF3 Gene

zinc and ring finger 3

Enables frizzled binding activity and ubiquitin-protein transferase activity. Involved in negative regulation of Wnt signaling pathway; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ZNRF2 Gene

zinc and ring finger 2, E3 ubiquitin protein ligase

Enables ubiquitin protein ligase activity. Involved in positive regulation of autophagosome-lysosome fusion. Located in cytoplasmic vesicle membrane; nuclear lumen; and plasma membrane. Part of protein-containing complex. Is active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

LOC100421674 Gene

kelch repeat and BTB (POZ) domain containing 2 pseudogene

TCEANC Gene

transcription elongation factor A (SII) N-terminal and central domain containing

Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LOC100129391 Gene

zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 pseudogene

CDT1 Gene

chromatin licensing and DNA replication factor 1

The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]

PTENP1 Gene

phosphatase and tensin homolog pseudogene 1 (functional)

PTENP1 represents a highly homologous processed pseudogene of PTEN (phosphatase and tensin homolog), a protein that encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. PTENP1 is found on chromosome 9 and regulates PTEN by both sense and antisense RNAs (Gene ID: 101243555). This long-noncoding RNA (lncRNA) acts as a decoy for PTEN targeting microRNAs and also exerts a tumor suppressive activity. [provided by RefSeq, Jun 2020]

LRTM2 Gene

leucine-rich repeats and transmembrane domains 2

Predicted to enable Roundabout binding activity and heparin binding activity. Predicted to be involved in axon guidance and negative chemotaxis. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC727896 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

RSPRY1 Gene

ring finger and SPRY domain containing 1

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ANKAR Gene

ankyrin and armadillo repeat containing

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100422426 Gene

CASP2 and RIPK1 domain containing adaptor with death domain pseudogene

GTSE1 Gene

G-2 and S-phase expressed 1

The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]

FYCO1 Gene

FYVE and coiled-coil domain containing 1

The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]

HERC2P1 Gene

hect domain and RLD 2 pseudogene 1

HERC2P3 Gene

hect domain and RLD 2 pseudogene 3

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Mar 2025]

HERC2P2 Gene

hect domain and RLD 2 pseudogene 2

HERC2P5 Gene

hect domain and RLD 2 pseudogene 5

HERC2P4 Gene

hect domain and RLD 2 pseudogene 4

HERC2P7 Gene

hect domain and RLD 2 pseudogene 7

HERC2P6 Gene

hect domain and RLD 2 pseudogene 6

HERC2P9 Gene

hect domain and RLD 2 pseudogene 9

HERC2P8 Gene

hect domain and RLD 2 pseudogene 8

CHFR Gene

checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

MECOM Gene

MDS1 and EVI1 complex locus

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

ZKSCAN7P1 Gene

zinc finger with KRAB and SCAN domains 7 pseudogene 1

ZSCAN9 Gene

zinc finger and SCAN domain containing 9

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN4 Gene

zinc finger and SCAN domain containing 4

The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]

ZSCAN1 Gene

zinc finger and SCAN domain containing 1

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN2 Gene

zinc finger and SCAN domain containing 2

The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PSD Gene

pleckstrin and Sec7 domain containing

This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

SAMM50P1 Gene

SAMM50 sorting and assembly machinery component pseudogene 1

CFAP36 Gene

cilia and flagella associated protein 36

Located in ciliary transition zone. [provided by Alliance of Genome Resources, Mar 2025]

ASAP1 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ASAP2 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 2

This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

ASAP3 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 3

This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

ANKLE1 Gene

ankyrin repeat and LEM domain containing 1

Enables endonuclease activity. Involved in DNA damage response and protein export from nucleus. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ANKLE2 Gene

ankyrin repeat and LEM domain containing 2

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

SPG7 Gene

spastic paraplegia 7 (pure and complicated autosomal recessive)

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

VWDE Gene

von Willebrand factor D and EGF domains

Predicted to enable signaling receptor binding activity. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

RINL Gene

Ras and Rab interactor-like

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in endocytosis. Predicted to be located in ruffle. Predicted to be active in cytosol and endocytic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

DEL11P13 Gene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

STAT6 Gene

signal transducer and activator of transcription 6, interleukin-4 induced

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

TMCC1 Gene

transmembrane and coiled-coil domain family 1

Enables identical protein binding activity. Involved in several processes, including endosome fission; endosome membrane tubulation; and membrane fission. Located in cytosol; endoplasmic reticulum-endosome membrane contact site; and rough endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

TMCC2 Gene

transmembrane and coiled-coil domain family 2

Involved in amyloid precursor protein metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

TMCC3 Gene

transmembrane and coiled-coil domain family 3

Enables 14-3-3 protein binding activity and identical protein binding activity. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

SAMHD1 Gene

SAM domain and HD domain 1

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

PYCARD Gene

PYD and CARD domain containing

This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EDIL3 Gene

EGF-like repeats and discoidin I-like domains 3

The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]

TIGIT Gene

T cell immunoreceptor with Ig and ITIM domains

This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]

AGAP7P Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene

Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Mar 2025]

LOC101059974 Gene

p53 and DNA damage-regulated protein 1 pseudogene

CCSAP Gene

centriole, cilia and spindle-associated protein

Enables microtubule binding activity. Involved in mitotic spindle microtubule depolymerization and regulation of mitotic spindle assembly. Located in axon; ciliary transition zone; and cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated cell cycle protein

This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]

WDHD1 Gene

WD repeat and HMG-box DNA binding protein 1

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PYHIN1 Gene

pyrin and HIN domain family, member 1

The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

WFIKKN2 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]

WFIKKN1 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]

DCAF12L2 Gene

DDB1 and CUL4 associated factor 12-like 2

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]

DCAF12L1 Gene

DDB1 and CUL4 associated factor 12-like 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

ZHX2 Gene

zinc fingers and homeoboxes 2

The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]

ZHX3 Gene

zinc fingers and homeoboxes 3

This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]

ZHX1 Gene

zinc fingers and homeoboxes 1

The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]

APPL1 Gene

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]

APPL2 Gene

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

LOC100421809 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene

FBXL3 Gene

F-box and leucine-rich repeat protein 3

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]

FBXL5 Gene

F-box and leucine-rich repeat protein 5

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]

LOC345571 Gene

RUN and FYVE domain containing 3 pseudogene

CLP1 Gene

cleavage and polyadenylation factor I subunit 1

This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

LOC105369175 Gene

cilia- and flagella-associated protein 54-like

CHRFAM7A Gene

CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]

LOC100420693 Gene

solute carrier family 47 (multidrug and toxin extrusion), member 2 pseudogene

SMYD4 Gene

SET and MYND domain containing 4

Predicted to enable histone deacetylase binding activity. Involved in heart development. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SMYD1 Gene

SET and MYND domain containing 1

Predicted to enable several functions, including histone H3K4 trimethyltransferase activity; metal ion binding activity; and transcription corepressor activity. Involved in positive regulation of myoblast differentiation and positive regulation of myotube differentiation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SMYD2 Gene

SET and MYND domain containing 2

SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]

SMYD3 Gene

SET and MYND domain containing 3

This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

SETMAR Gene

SET domain and mariner transposase fusion gene

This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ZKSCAN1 Gene

zinc finger with KRAB and SCAN domains 1

This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]

ZKSCAN3 Gene

zinc finger with KRAB and SCAN domains 3

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in lysosome organization; negative regulation of metabolic process; and regulation of DNA-templated transcription. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZKSCAN2 Gene

zinc finger with KRAB and SCAN domains 2

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZKSCAN5 Gene

zinc finger with KRAB and SCAN domains 5

This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ZKSCAN4 Gene

zinc finger with KRAB and SCAN domains 4

Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZKSCAN7 Gene

zinc finger with KRAB and SCAN domains 7

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZKSCAN8 Gene

zinc finger with KRAB and SCAN domains 8

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

INDX Gene

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

TOPAZ1 Gene

testis and ovary specific PAZ domain containing 1

Predicted to be involved in spermatocyte division. Predicted to act upstream of or within apoptotic process; ectopic germ cell programmed cell death; and lncRNA transcription. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

VAPB Gene

VAMP (vesicle-associated membrane protein)-associated protein B and C

The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

PCF11 Gene

PCF11 cleavage and polyadenylation factor subunit

The protein encoded by this gene binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation of the 3' product of polyA site cleavage. [provided by RefSeq, Oct 2016]

BABAM1 Gene

BRISC and BRCA1 A complex member 1

Enables identical protein binding activity. Involved in several processes, including DNA repair-dependent chromatin remodeling; mitotic G2 DNA damage checkpoint signaling; and positive regulation of DNA repair. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Mar 2025]

RUFY1 Gene

RUN and FYVE domain containing 1

This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

RUFY3 Gene

RUN and FYVE domain containing 3

This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

RUFY2 Gene

RUN and FYVE domain containing 2

Enables SH3 domain binding activity. Predicted to be involved in regulation of endocytosis. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RUFY4 Gene

RUN and FYVE domain containing 4

Enables phosphatidylinositol-3-phosphate binding activity. Involved in autophagosome assembly; cellular response to interleukin-4; and positive regulation of macroautophagy. Located in autophagosome. [provided by Alliance of Genome Resources, Mar 2025]

LAMTOR3P1 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1

PPDPF Gene

pancreatic progenitor cell differentiation and proliferation factor

Predicted to be involved in cell differentiation. Predicted to act upstream of or within TORC1 signaling and liver development. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ECM2 Gene

extracellular matrix protein 2, female organ and adipocyte specific

ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

KANK4 Gene

KN motif and ankyrin repeat domains 4

Predicted to be involved in negative regulation of actin filament polymerization. Located in cytosol and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

KANK2 Gene

KN motif and ankyrin repeat domains 2

This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]

KANK3 Gene

KN motif and ankyrin repeat domains 3

Predicted to be involved in negative regulation of actin filament polymerization. Predicted to be active in cytoplasm and cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

KANK1 Gene

KN motif and ankyrin repeat domains 1

The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

TMIGD3 Gene

transmembrane and immunoglobulin domain containing 3

This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]

TMIGD2 Gene

transmembrane and immunoglobulin domain containing 2

Enables coreceptor activity. Involved in positive regulation of T cell activation; positive regulation of angiogenesis; and positive regulation of cytokine production. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

WDFY3 Gene

WD repeat and FYVE domain containing 3

This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]

WDFY2 Gene

WD repeat and FYVE domain containing 2

This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]

WDFY1 Gene

WD repeat and FYVE domain containing 1

The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]

CHORDC2P Gene

cysteine and histidine-rich domain (CHORD) containing 2 pseudogene

SPECC1 Gene

sperm antigen with calponin homology and coiled-coil domains 1

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

LIMS2 Gene

LIM and senescent cell antigen-like domains 2

This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

LIMS3 Gene

LIM and senescent cell antigen-like domains 3

Predicted to enable metal ion binding activity. Predicted to be located in cytoplasm; focal adhesion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LIMS1 Gene

LIM and senescent cell antigen-like domains 1

The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

SUN2 Gene

Sad1 and UNC84 domain containing 2

SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]

SUN3 Gene

Sad1 and UNC84 domain containing 3

Predicted to enable protein-membrane adaptor activity. Predicted to be located in nuclear inner membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

SUN1 Gene

Sad1 and UNC84 domain containing 1

This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2019]

SUN5 Gene

Sad1 and UNC84 domain containing 5

The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]

LOC100421332 Gene

zinc finger with KRAB and SCAN domains 1 pseudogene

AOCH Gene

Acromegaloid features, overgrowth, cleft palate, and hernia

DCAF8L1 Gene

DDB1 and CUL4 associated factor 8-like 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate the formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 1. However, the CDS of this intronless gene remains intact, it is conserved in other primate species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]

DCAF8L2 Gene

DDB1 and CUL4 associated factor 8-like 2

Predicted to be located in nucleus. Predicted to be part of Cul4-RING E3 ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PAQR8 Gene

progestin and adipoQ receptor family member VIII

Predicted to enable nuclear steroid receptor activity and steroid binding activity. Predicted to be involved in response to steroid hormone. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PAQR3 Gene

progestin and adipoQ receptor family member III

This gene encodes a seven-transmembrane protein localized in the Golgi apparatus in mammalian cells. The encoded protein belongs to the progestin and adipoQ receptor (PAQR) family. This protein functions as a tumor suppressor by inhibiting the Raf/MEK/ERK signaling cascade. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

PAQR5 Gene

progestin and adipoQ receptor family member V

Predicted to enable signaling receptor activity. Predicted to be involved in oogenesis. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PAQR4 Gene

progestin and adipoQ receptor family member IV

Enables molecular adaptor activity. Involved in protein stabilization and regulation of ceramide biosynthetic process. Located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]

PAQR7 Gene

progestin and adipoQ receptor family member VII

Predicted to enable nuclear steroid receptor activity and steroid binding activity. Predicted to be involved in response to steroid hormone. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PAQR6 Gene

progestin and adipoQ receptor family member VI

Predicted to enable signaling receptor activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC102723407 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

SLITRK6 Gene

SLIT and NTRK-like family, member 6

This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]

SLITRK4 Gene

SLIT and NTRK-like family, member 4

This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

SLITRK5 Gene

SLIT and NTRK-like family, member 5

Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]

SLITRK2 Gene

SLIT and NTRK-like family, member 2

This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]

SLITRK3 Gene

SLIT and NTRK-like family, member 3

This gene encodes a member of the Slitrk family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]

SLITRK1 Gene

SLIT and NTRK-like family, member 1

This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ETL4 Gene

epilepsy, occipitotemporal lobe, and migraine with aura

R3HCC1L Gene

R3H domain and coiled-coil containing 1-like

Located in exon-exon junction complex. [provided by Alliance of Genome Resources, Mar 2025]

HMSN5 Gene

Hereditary motor and sensory neuropathy V

LOC100421641 Gene

zinc finger CCHC-type and RNA binding motif 1 pseudogene

CSPP1 Gene

centrosome and spindle pole associated protein 1

This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

GNPTAB Gene

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

QSER1 Gene

glutamine and serine rich 1

Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Mar 2025]

NMSR Gene

Neuropathy, hereditary motor and sensory, Russe type

ANKUB1 Gene

ankyrin repeat and ubiquitin domain containing 1

MSTO1 Gene

misato 1, mitochondrial distribution and morphology regulator

Involved in mitochondrion distribution; mitochondrion organization; and positive regulation of mitochondrial fusion. Located in mitochondrial outer membrane. Is active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB3 Gene

zinc finger and BTB domain containing 3

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

PATE1 Gene

prostate and testis expressed 1

Predicted to enable acetylcholine receptor regulator activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

PATE3 Gene

prostate and testis expressed 3

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

PATE2 Gene

prostate and testis expressed 2

Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB1 Gene

zinc finger and BTB domain containing 1

Enables K63-linked polyubiquitin modification-dependent protein binding activity; protein heterodimerization activity; and protein homodimerization activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; nucleobase-containing compound biosynthetic process; and protein homooligomerization. Located in nuclear body and nuclear membrane. [provided by Alliance of Genome Resources, Mar 2025]

HECW1 Gene

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in regulation of dendrite morphogenesis and ubiquitin-dependent protein catabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

HECW2 Gene

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

LOC101929203 Gene

RING finger and transmembrane domain-containing protein 1-like

HPRHP Gene

Hypophosphatemic rickets and hyperparathyroidism

PSIP1P2 Gene

PC4 and SFRS1 interacting protein 1 pseudogene 2

PSIP1P1 Gene

PC4 and SFRS1 interacting protein 1 pseudogene 1

RADIL Gene

Ras association and DIL domains

Predicted to enable GTPase binding activity. Acts upstream of or within substrate adhesion-dependent cell spreading. Located in microtubule. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

NHS Gene

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

VSIG10L Gene

V-set and immunoglobulin domain containing 10 like

Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MMEDF Gene

Macrocephaly with multiple epiphyseal dysplasia and distinctive facies

LOC102723478 Gene

coxsackievirus and adenovirus receptor pseudogene

CFAP221 Gene

cilia and flagella associated protein 221

Predicted to enable calmodulin binding activity. Predicted to be involved in motile cilium assembly. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme; glial cell projection; and manchette. Predicted to be active in 9+2 motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

LOC105369258 Gene

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4

DLEC1P1 Gene

deleted in lung and esophageal cancer 1 pseudogene 1

ASOBS Gene

Asthma and obesity susceptibility, chromosome 16p11 inversion related

CIB2 Gene

calcium and integrin binding family member 2

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CIB3 Gene

calcium and integrin binding family member 3

This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CIB1 Gene

calcium and integrin binding 1 (calmyrin)

This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

CIB4 Gene

calcium and integrin binding family member 4

Enables calcium ion binding activity and magnesium ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

RASEF Gene

RAS and EF-hand domain containing

This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]

LOC100422376 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

JMY Gene

junction mediating and regulatory protein, p53 cofactor

Enables microtubule binding activity. Involved in cellular response to starvation. Located in autophagosome membrane; cell leading edge; and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

LRIG3 Gene

leucine-rich repeats and immunoglobulin-like domains 3

Predicted to act upstream of or within otolith morphogenesis. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LRIG2 Gene

leucine-rich repeats and immunoglobulin-like domains 2

This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

LRIG1 Gene

leucine-rich repeats and immunoglobulin-like domains 1

Predicted to act upstream of or within several processes, including innervation; otolith morphogenesis; and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

RGPD5 Gene

RANBP2-like and GRIP domain containing 5

RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq, Jul 2008]

FRMPD4 Gene

FERM and PDZ domain containing 4

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]

FRMPD1 Gene

FERM and PDZ domain containing 1

Involved in establishment of protein localization to membrane and regulation of G protein-coupled receptor signaling pathway. Located in cell cortex and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

FRMPD3 Gene

FERM and PDZ domain containing 3

This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton. [provided by RefSeq, May 2017]

FRMPD2 Gene

FERM and PDZ domain containing 2

This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]

PDLIM1P4 Gene

PDZ and LIM domain 1 pseudogene 4

XPR1 Gene

xenotropic and polytropic retrovirus receptor 1

The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]

PDLIM1P3 Gene

PDZ and LIM domain 1 pseudogene 3

PDLIM1P2 Gene

PDZ and LIM domain 1 pseudogene 2

PDLIM1P1 Gene

PDZ and LIM domain 1 pseudogene 1

HOMEZ Gene

homeobox and leucine zipper encoding

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

HEPACAM Gene

hepatic and glial cell adhesion molecule

The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]

BAMBI Gene

BMP and activin membrane-bound inhibitor

This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]

LOC100421246 Gene

D4, zinc and double PHD fingers family 2 pseudogene

LOC100288929 Gene

coxsackievirus and adenovirus receptor-like

LOC391230 Gene

KN motif and ankyrin repeat domain-containing protein 1-like

DELXQ21 Gene

Choroideremia, deafness, and mental retardation

SCLT1 Gene

sodium channel and clathrin linker 1

This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

SPOAN Gene

spastic paraplegia, optic atrophy, and neuropathy

DEL15Q15.3 Gene

Deafness and male infertility

GCSAML Gene

germinal center-associated, signaling and motility-like

This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SH3YL1 Gene

SH3 and SYLF domain containing 1

Enables phosphatase binding activity and phosphatidylinositol binding activity. Predicted to be involved in regulation of ruffle assembly. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC646071 Gene

disintegrin and metalloproteinase domain-containing protein 21-like

DCAF13 Gene

DDB1 and CUL4 associated factor 13

Enables nuclear estrogen receptor binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including decidualization; epigenetic programming in the zygotic pronuclei; and spindle assembly involved in female meiosis. Located in several cellular components, including centrosome; cytosol; and nuclear lumen. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

DCAF12 Gene

DDB1 and CUL4 associated factor 12

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]

DCAF11 Gene

DDB1 and CUL4 associated factor 11

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

DCAF10 Gene

DDB1 and CUL4 associated factor 10

Predicted to be involved in protein ubiquitination. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

DCAF17 Gene

DDB1 and CUL4 associated factor 17

This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

DCAF16 Gene

DDB1 and CUL4 associated factor 16

Predicted to be involved in protein ubiquitination. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

DCAF15 Gene

DDB1 and CUL4 associated factor 15

Enables small molecule binding activity. Involved in protein polyubiquitination and regulation of natural killer cell activation. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

AGGF1P3 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 3

AGGF1P2 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 2

AGGF1P1 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 1

AGGF1P7 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 7

AGGF1P5 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 5

AGGF1P4 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 4

AGGF1P9 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 9

AGGF1P8 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 8

LOC101930080 Gene

GPS, PLAT and transmembrane domain-containing protein FLJ00285-like

LMCD1 Gene

LIM and cysteine-rich domains 1

This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

ZBTB8OSP2 Gene

zinc finger and BTB domain containing 8 opposite strand pseudogene 2

ACAP2 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 2

Enables GTPase activator activity. Acts upstream of or within actin filament-based process. Located in ruffle. [provided by Alliance of Genome Resources, Mar 2025]

SPATC1L Gene

spermatogenesis and centriole associated 1-like

Enables identical protein binding activity. Predicted to be involved in spermatogenesis. Predicted to act upstream of or within actin polymerization or depolymerization; positive regulation of cAMP-dependent protein kinase activity; and positive regulation of cAMP/PKA signal transduction. Predicted to be active in centrosome and sperm head-tail coupling apparatus. [provided by Alliance of Genome Resources, Mar 2025]

R3HCC1 Gene

R3H domain and coiled-coil containing 1

Predicted to enable nucleic acid binding activity. [provided by Alliance of Genome Resources, Mar 2025]

IQSEC1 Gene

IQ motif and Sec7 domain 1

Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in nucleolus. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

IQSEC3 Gene

IQ motif and Sec7 domain 3

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including activation of GTPase activity; postsynapse organization; and regulation of small GTPase mediated signal transduction. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

IQSEC2 Gene

IQ motif and Sec7 domain 2

This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

NOLC1 Gene

nucleolar and coiled-body phosphoprotein 1

Enables molecular function inhibitor activity; protein heterodimerization activity; and protein-macromolecule adaptor activity. Involved in neural crest cell development; neural crest formation; and regulation of translation. Acts upstream of or within axonogenesis and regulation of synaptic plasticity. Located in fibrillar center. [provided by Alliance of Genome Resources, Mar 2025]

MYRIP Gene

myosin VIIA and Rab interacting protein

Predicted to enable actin binding activity; myosin binding activity; and protein kinase A binding activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in several cellular components, including cytoplasmic vesicle; perinuclear region of cytoplasm; and photoreceptor outer segment. Predicted to be part of exocyst. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

MNX1 Gene

motor neuron and pancreas homeobox 1

This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

LOC105372412 Gene

phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein-like

PSD2 Gene

pleckstrin and Sec7 domain containing 2

Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction. Predicted to be located in cleavage furrow and ruffle membrane. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

PSD4 Gene

pleckstrin and Sec7 domain containing 4

Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction. Located in ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025]

UEVLD Gene

UEV and lactate/malate dehyrogenase domains

Predicted to enable ubiquitin binding activity. Predicted to be involved in endosome to lysosome transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

EYA4 Gene

EYA transcriptional coactivator and phosphatase 4

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

EYA1 Gene

EYA transcriptional coactivator and phosphatase 1

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]

EYA3 Gene

EYA transcriptional coactivator and phosphatase 3

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

EYA2 Gene

EYA transcriptional coactivator and phosphatase 2

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]

IGFN1 Gene

immunoglobulin-like and fibronectin type III domain containing 1

Predicted to be located in Z disc and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

OGFOD1 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 1

Enables peptidyl-proline 3-dioxygenase activity. Involved in several processes, including peptidyl-proline hydroxylation; regulation of translational termination; and stress granule assembly. Located in cytoplasmic stress granule; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

OGFOD3 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 3

Predicted to enable several functions, including L-ascorbic acid binding activity; dioxygenase activity; and iron ion binding activity. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

OGFOD2 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 2

Predicted to enable several functions, including L-ascorbic acid binding activity; dioxygenase activity; and iron ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

LOC100421368 Gene

zinc finger and SCAN domain containing 5A pseudogene

LOC100288803 Gene

F-box and WD repeat domain containing 2 pseudogene

LOC402076 Gene

F-box and leucine-rich repeat protein 12 pseudogene

DHTKD1 Gene

dehydrogenase E1 and transketolase domain containing 1

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

LRTM1 Gene

leucine-rich repeats and transmembrane domains 1

Predicted to enable Roundabout binding activity and heparin binding activity. Predicted to be involved in axon guidance and negative chemotaxis. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

SUGP2 Gene

SURP and G patch domain containing 2

This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

SUGP1 Gene

SURP and G patch domain containing 1

SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]

FBXL4 Gene

F-box and leucine-rich repeat protein 4

This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

LOC338667 Gene

V-set and immunoglobulin domain-containing protein 10-like

Predicted to enable cell adhesion molecule binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in membrane. Predicted to be active in cell-cell junction and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

GADD45GIP1 Gene

growth arrest and DNA-damage-inducible, gamma interacting protein 1

This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]

CNC2 Gene

Carney complex type 2, multiple neoplasia and lentiginosis

TSPEAR Gene

thrombospondin-type laminin G domain and EAR repeats

This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

HYMAI Gene

hydatidiform mole associated and imprinted (non-protein coding)

This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]

LOC101060581 Gene

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5-like

BSPRY Gene

B-box and SPRY domain containing

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in cell leading edge; membrane; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC729707 Gene

transmembrane and tetratricopeptide repeat containing 4 pseudogene

LOC105369245 Gene

FERM and PDZ domain-containing protein 2

FGD5P1 Gene

FYVE, RhoGEF and PH domain containing 5 pseudogene 1

NWD1 Gene

NACHT and WD repeat domain containing 1

The protein encoded by this gene is thought to be a cytosolic protein and predicted to contain a NACHT domain and multiple WD40 repeats. Increased expression of this gene was observed in some prostate cancer cell lines. Knocking down expression of this gene results in decreased androgen receptor protein levels, indicating that this gene may be important in modulating androgen receptor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

NWD2 Gene

NACHT and WD repeat domain containing 2

Predicted to be active in synapse. [provided by Alliance of Genome Resources, Mar 2025]

EPRPDC Gene

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

GAD2 Gene

glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)

This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]

GOPC Gene

golgi-associated PDZ and coiled-coil motif containing

This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

UBASH3A Gene

ubiquitin associated and SH3 domain containing A

This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

UBASH3B Gene

ubiquitin associated and SH3 domain containing B

This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]

WHAMM Gene

WAS protein homolog associated with actin, golgi membranes and microtubules

This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]

CFAP58 Gene

cilia and flagella associated protein 58

Involved in protein localization to motile cilium; sperm axoneme assembly; and sperm mitochondrial sheath assembly. Located in sperm midpiece. Implicated in spermatogenic failure 49. [provided by Alliance of Genome Resources, Mar 2025]

CFAP54 Gene

cilia and flagella associated 54

Predicted to be involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Mar 2025]

CFAP57 Gene

cilia and flagella associated protein 57

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

CFAP53 Gene

cilia and flagella associated protein 53

This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]

NPDC1 Gene

neural proliferation, differentiation and control, 1

Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SERTM1 Gene

serine-rich and transmembrane domain containing 1

Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

HAND1 Gene

heart and neural crest derivatives expressed 1

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]

LOC102724223 Gene

sodium- and chloride-dependent creatine transporter 1-like

ZBTB26 Gene

zinc finger and BTB domain containing 26

Enables identical protein binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB24 Gene

zinc finger and BTB domain containing 24

Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in nucleus. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 2. [provided by Alliance of Genome Resources, Mar 2025]

MYL6 Gene

myosin, light chain 6, alkali, smooth muscle and non-muscle

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ZRSR1 Gene

zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1

Predicted to enable pre-mRNA 3'-splice site binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be part of U2AF complex and spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]

RSG1 Gene

REM2 and RAB-like small GTPase 1

Predicted to enable GTP binding activity. Predicted to be involved in cilium assembly; protein localization; and regulation of vesicle-mediated transport. Predicted to act upstream of or within several processes, including axoneme assembly; endocardial cushion fusion; and regulation of smoothened signaling pathway. Located in centriole; ciliary basal body; and ciliary transition zone. [provided by Alliance of Genome Resources, Mar 2025]

CAND2 Gene

cullin-associated and neddylation-dissociated 2 (putative)

Predicted to enable TBP-class protein binding activity. Predicted to be involved in SCF complex assembly; positive regulation of DNA-templated transcription; and protein ubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

CAND1 Gene

cullin-associated and neddylation-dissociated 1

This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

BRPF3 Gene

bromodomain and PHD finger containing, 3

Contributes to histone acetyltransferase activity. Involved in positive regulation of DNA replication. Located in nucleus. Part of MOZ/MORF histone acetyltransferase complex. [provided by Alliance of Genome Resources, Mar 2025]

BRPF1 Gene

bromodomain and PHD finger containing, 1

This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

REM1 Gene

RAS (RAD and GEM)-like GTP-binding 1

The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]

REM2 Gene

RAS (RAD and GEM)-like GTP binding 2

Predicted to enable GTP binding activity and calcium channel regulator activity. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

FBXL13 Gene

F-box and leucine-rich repeat protein 13

Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL12 Gene

F-box and leucine-rich repeat protein 12

Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL15 Gene

F-box and leucine-rich repeat protein 15

Involved in several processes, including G2/M transition of mitotic cell cycle; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; and positive regulation of BMP signaling pathway. Located in cytoplasm. Part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

FBXL17 Gene

F-box and leucine-rich repeat protein 17

Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL16 Gene

F-box and leucine-rich repeat protein 16

Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL18 Gene

F-box and leucine-rich repeat protein 18

The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]

FHASD Gene

Foveal hypoplasia and anterior segment dysgenesis

CFLAR Gene

CASP8 and FADD-like apoptosis regulator

The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]

CSRP2P Gene

cysteine and glycine-rich protein 2 pseudogene

RAPH1 Gene

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

JCHAIN Gene

joining chain of multimeric IgA and IgM

Enables IgA binding activity and protein homodimerization activity. Contributes to several functions, including immunoglobulin receptor binding activity; peptidoglycan binding activity; and phosphatidylcholine binding activity. Involved in several processes, including glomerular filtration; innate immune response; and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex; pentameric IgM immunoglobulin complex; and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

PTGS2 Gene

prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)

Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]

PTGS1 Gene

prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)

This is one of two genes encoding similar enzymes that catalyze the conversion of arachidonate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2021]

MYSM1 Gene

Myb-like, SWIRM and MPN domains 1

Enables deubiquitinase activity; histone binding activity; and transcription coactivator activity. Involved in chromatin remodeling; positive regulation of transcription by RNA polymerase II; and regulation of hemopoiesis. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Mar 2025]

LONRF2P2 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene 2

LONRF2P1 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene 1

LOC401770 Gene

DET1 and DDB1 associated 1 pseudogene

SESTD1 Gene

SEC14 and spectrin domains 1

Enables phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Involved in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel. Located in calcium channel complex and intermediate filament cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

TMCO5B Gene

transmembrane and coiled-coil domains 5B, pseudogene

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

TMCO5A Gene

transmembrane and coiled-coil domains 5A

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

TBATA Gene

thymus, brain and testes associated

This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

LOC102724937 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene

WWC1 Gene

WW and C2 domain containing 1

The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

GPANK1 Gene

G patch domain and ankyrin repeats 1

This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]

PELP1 Gene

proline, glutamate and leucine rich protein 1

This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

LONRF3 Gene

LON peptidase N-terminal domain and ring finger 3

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008]

LONRF2 Gene

LON peptidase N-terminal domain and ring finger 2

Predicted to enable ubiquitin protein ligase activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LONRF1 Gene

LON peptidase N-terminal domain and ring finger 1

Predicted to enable ubiquitin protein ligase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

LRRIQ1 Gene

leucine-rich repeats and IQ motif containing 1

Predicted to be involved in regulation of signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

LRRIQ4 Gene

leucine-rich repeats and IQ motif containing 4

Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LRSAM1 Gene

leucine rich repeat and sterile alpha motif containing 1

This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]

TTIM1 Gene

T-cell tumor invasion and metastasis 1

CAAP1 Gene

caspase activity and apoptosis inhibitor 1

Involved in negative regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB39 Gene

zinc finger and BTB domain containing 39

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB38 Gene

zinc finger and BTB domain containing 38

The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]

ZBTB33 Gene

zinc finger and BTB domain containing 33

This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010]

ZBTB32 Gene

zinc finger and BTB domain containing 32

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB34 Gene

zinc finger and BTB domain containing 34

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB37 Gene

zinc finger and BTB domain containing 37

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in chromatin. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

AGAP11 Gene

ankyrin repeat and GTPase domain Arf GTPase activating protein 11

Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Mar 2025]

RNGTTP1 Gene

RNA guanylyltransferase and 5'-phosphatase pseudogene 1

CXADRP2 Gene

coxsackie virus and adenovirus receptor pseudogene 2

CXADRP1 Gene

coxsackie virus and adenovirus receptor pseudogene 1

CPSF7 Gene

cleavage and polyadenylation specific factor 7, 59kDa

Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]

CPSF6 Gene

cleavage and polyadenylation specific factor 6, 68kDa

The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]

CPSF4 Gene

cleavage and polyadenylation specific factor 4, 30kDa

Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

CPSF3 Gene

cleavage and polyadenylation specific factor 3, 73kDa

This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]

CPSF2 Gene

cleavage and polyadenylation specific factor 2, 100kDa

Predicted to enable RNA binding activity. Involved in mRNA 3'-end processing by stem-loop binding activity and cleavage. Located in membrane. Part of mRNA cleavage and polyadenylation specificity factor complex. [provided by Alliance of Genome Resources, Mar 2025]

CPSF1 Gene

cleavage and polyadenylation specific factor 1, 160kDa

Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]

GCC2 Gene

GRIP and coiled-coil domain containing 2

The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

GCC1 Gene

GRIP and coiled-coil domain containing 1

The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008]

OGFOD1P1 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 1 pseudogene 1

GADD45AP1 Gene

growth arrest and DNA-damage-inducible, alpha pseudogene 1

BACH2 Gene

BTB and CNC homology 1, basic leucine zipper transcription factor 2

Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Mar 2025]

BACH1 Gene

BTB and CNC homology 1, basic leucine zipper transcription factor 1

This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]

WSB1 Gene

WD repeat and SOCS box containing 1

This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

WSB2 Gene

WD repeat and SOCS box containing 2

This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

RGPD2 Gene

RANBP2-like and GRIP domain containing 2

Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RGPD3 Gene

RANBP2-like and GRIP domain containing 3

This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011]

RGPD1 Gene

RANBP2-like and GRIP domain containing 1

Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RGPD6 Gene

RANBP2-like and GRIP domain containing 6

Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RGPD4 Gene

RANBP2-like and GRIP domain containing 4

Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RGPD8 Gene

RANBP2-like and GRIP domain containing 8

Predicted to enable small GTPase binding activity. Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MYL6B Gene

myosin, light chain 6B, alkali, smooth muscle and non-muscle

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

FBXW8 Gene

F-box and WD repeat domain containing 8

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

FBXW9 Gene

F-box and WD repeat domain containing 9

Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXW2 Gene

F-box and WD repeat domain containing 2

F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]

FBXW4 Gene

F-box and WD repeat domain containing 4

This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]

FBXW5 Gene

F-box and WD repeat domain containing 5

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]

FBXW7 Gene

F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

HERC2P11 Gene

hect domain and RLD 2 pseudogene 11

HERC2P10 Gene

hect domain and RLD 2 pseudogene 10

INIP Gene

INTS3 and NABP interacting protein

The protein encoded by this gene is a subunit of single-stranded DNA binding complexes that are important for maintaining genome stability. These complexes are involved in G2/M checkpoint control and homologous recombination repair. [provided by RefSeq, Jul 2016]

TDRKH Gene

tudor and KH domain containing

Predicted to enable RNA binding activity. Predicted to be involved in several processes, including P granule organization; male meiotic nuclear division; and piRNA processing. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB8OSP1 Gene

zinc finger and BTB domain containing 8 opposite strand pseudogene 1

ZFAT Gene

zinc finger and AT hook domain containing

This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]

HAPLN4 Gene

hyaluronan and proteoglycan link protein 4

Predicted to be a structural constituent of synapse-associated extracellular matrix. Predicted to be involved in several processes, including GABAergic synaptic transmission; nervous system development; and positive regulation of neuroblast proliferation. Predicted to be located in extracellular region. Predicted to be active in extracellular space; perineuronal net; and synapse. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN29 Gene

zinc finger and SCAN domain containing 29

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN25 Gene

zinc finger and SCAN domain containing 25

This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]

ZSCAN26 Gene

zinc finger and SCAN domain containing 26

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN20 Gene

zinc finger and SCAN domain containing 20

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN21 Gene

zinc finger and SCAN domain containing 21

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN22 Gene

zinc finger and SCAN domain containing 22

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN23 Gene

zinc finger and SCAN domain containing 23

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ANKZF1 Gene

ankyrin repeat and zinc finger domain containing 1

Enables RNA endonuclease activity and catalytic activity, acting on a tRNA. Involved in cellular response to hydrogen peroxide; protein quality control for misfolded or incompletely synthesized proteins; and rescue of stalled ribosome. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC100287357 Gene

coxsackie virus and adenovirus receptor pseudogene

PPWD1 Gene

peptidylprolyl isomerase domain and WD repeat containing 1

Enables peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nuclear body. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Mar 2025]

ANKS3 Gene

ankyrin repeat and sterile alpha motif domain containing 3

Predicted to be located in cytoplasm. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Mar 2025]

ANKS6 Gene

ankyrin repeat and sterile alpha motif domain containing 6

This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]

SAMM50 Gene

SAMM50 sorting and assembly machinery component

This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]

BZW1P2 Gene

basic leucine zipper and W2 domains 1 pseudogene 2

BZW1P1 Gene

basic leucine zipper and W2 domains 1 pseudogene 1

IQSEC3P1 Gene

IQ motif and Sec7 domain 3 pseudogene 1

IQSEC3P2 Gene

IQ motif and Sec7 domain 3 pseudogene 2

IQSEC3P3 Gene

IQ motif and Sec7 domain 3 pseudogene 3

XGR Gene

XG and CD99 regulator

CPSF1P1 Gene

cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1

FHL5 Gene

four and a half LIM domains 5

The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]

MITD1 Gene

MIT, microtubule interacting and transport, domain containing 1

Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

PSIP1 Gene

PC4 and SFRS1 interacting protein 1

Enables DNA-binding transcription factor binding activity; chromatin binding activity; and transcription coactivator activity. Involved in mRNA 5'-splice site recognition and positive regulation of transcription by RNA polymerase II. Located in heterochromatin; nuclear periphery; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CAD Gene

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

LOC100418862 Gene

sperm antigen with calponin homology and coiled-coil domains 1 pseudogene

RITA1 Gene

RBPJ interacting and tubulin associated 1

Enables tubulin binding activity. Involved in negative regulation of Notch signaling pathway and nuclear export. Located in centrosome; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SPECC1L Gene

sperm antigen with calponin homology and coiled-coil domains 1-like

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]

LOC392426 Gene

nucleolar and coiled-body phosphoprotein 1 pseudogene

FSD1 Gene

fibronectin type III and SPRY domain containing 1

This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]

FSD2 Gene

fibronectin type III and SPRY domain containing 2

This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

PBOV1 Gene

prostate and breast cancer overexpressed 1

This intronless gene encodes a protein of unknown function. Its expression is up-regulated in some types of cancer, including prostate, breast, and bladder cancer. [provided by RefSeq, Aug 2011]

CC2D2A Gene

coiled-coil and C2 domain containing 2A

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

CC2D2B Gene

coiled-coil and C2 domain containing 2B

Predicted to be involved in non-motile cilium assembly and protein localization to ciliary transition zone. Predicted to be active in ciliary transition zone. [provided by Alliance of Genome Resources, Mar 2025]

LBH Gene

limb bud and heart development

Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of MAPK cascade. Located in cytoplasm and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC391465 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase pseudogene

FABP3 Gene

fatty acid binding protein 3, muscle and heart

The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

ASB10 Gene

ankyrin repeat and SOCS box containing 10

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]

ASB12 Gene

ankyrin repeat and SOCS box containing 12

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]

ASB13 Gene

ankyrin repeat and SOCS box containing 13

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]

ASB14 Gene

ankyrin repeat and SOCS box containing 14

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]

ASB16 Gene

ankyrin repeat and SOCS box containing 16

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]

ASB17 Gene

ankyrin repeat and SOCS box containing 17

Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

ASB18 Gene

ankyrin repeat and SOCS box containing 18

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]

NSMF Gene

NMDA receptor synaptonuclear signaling and neuronal migration factor

The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

CCZ1B Gene

CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Mar 2025]

LILRB5 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB4 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB3 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB2 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB1 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC105375116 Gene

TRIO and F-actin-binding protein-like

LOC100418722 Gene

cilia and flagella associated protein 97 pseudogene

CLPTM1 Gene

cleft lip and palate associated transmembrane protein 1

Predicted to enable GABA receptor binding activity. Predicted to be involved in regulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

HSD3B7 Gene

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

HSD3B1 Gene

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]

HSD3B2 Gene

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

CSMD2 Gene

CUB and Sushi multiple domains 2

The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020]

CSMD3 Gene

CUB and Sushi multiple domains 3

Predicted to be involved in regulation of dendrite development. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CSMD1 Gene

CUB and Sushi multiple domains 1

Predicted to act upstream of or within several processes, including learning or memory; mammary gland branching involved in pregnancy; and reproductive structure development. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

CFAP20 Gene

cilia and flagella associated protein 20

Enables RNA binding activity. Involved in several processes, including positive regulation of feeding behavior; protein polyglutamylation; and regulation of cilium beat frequency involved in ciliary motility. Located in microtubule cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LRCH4 Gene

leucine-rich repeats and calponin homology (CH) domain containing 4

This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]

LRCH1 Gene

leucine-rich repeats and calponin homology (CH) domain containing 1

This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]

LRCH2 Gene

leucine-rich repeats and calponin homology (CH) domain containing 2

This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

LRCH3 Gene

leucine-rich repeats and calponin homology (CH) domain containing 3

Involved in septin cytoskeleton organization. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

LOC102724962 Gene

angiogenic factor with G patch and FHA domains 1-like

ELMO2P1 Gene

engulfment and cell motility 2 pseudogene 1

DAPP1 Gene

dual adaptor of phosphotyrosine and 3-phosphoinositides

Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Predicted to be involved in protein dephosphorylation and signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

KBTBD6 Gene

kelch repeat and BTB (POZ) domain containing 6

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination; and regulation of Rac protein signal transduction. Located in cytoplasm and nucleus. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

CCBE1 Gene

collagen and calcium binding EGF domains 1

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

PERM1 Gene

PPARGC1 and ESRR induced regulator, muscle 1

Involved in response to muscle activity. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LOC651644 Gene

LIM and senescent cell antigen-like domains 2 pseudogene

TIAM1 Gene

T-cell lymphoma invasion and metastasis 1

This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017]

TIAM2 Gene

T-cell lymphoma invasion and metastasis 2

This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

VSTM2L Gene

V-set and transmembrane domain containing 2 like

Involved in negative regulation of neuron apoptotic process. Located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

VSTM2A Gene

V-set and transmembrane domain containing 2A

Predicted to enable identical protein binding activity. Involved in several processes, including positive regulation of brown fat cell differentiation; positive regulation of lipid storage; and positive regulation of white fat cell proliferation. Predicted to be located in extracellular region. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

VSTM2B Gene

V-set and transmembrane domain containing 2B

Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

SPICE1 Gene

spindle and centriole associated protein 1

Involved in metaphase chromosome alignment; mitotic spindle assembly; and regulation of centriole replication. Located in centriole; centrosome; and spindle. [provided by Alliance of Genome Resources, Mar 2025]

RCHY1 Gene

ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase

The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]

APLF Gene

aprataxin and PNKP like factor

Enables several functions, including ADP-D-ribose modification-dependent protein binding activity; nuclease activity; and poly-ADP-D-ribose binding activity. Involved in DNA repair; DNA repair-dependent chromatin remodeling; and protein localization to chromatin. Acts upstream of or within positive regulation of DNA ligation. Located in nucleoplasm. Is active in site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]

ANKEF1 Gene

ankyrin repeat and EF-hand domain containing 1

Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

CABLES1 Gene

Cdk5 and Abl enzyme substrate 1

This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

CABLES2 Gene

Cdk5 and Abl enzyme substrate 2

Predicted to be involved in cell division and regulation of cell cycle. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB40 Gene

zinc finger and BTB domain containing 40

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in DNA damage response. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB41 Gene

zinc finger and BTB domain containing 41

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB42 Gene

zinc finger and BTB domain containing 42

The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]

ZBTB43 Gene

zinc finger and BTB domain containing 43

Enables RNA polymerase III general transcription initiation factor binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB44 Gene

zinc finger and BTB domain containing 44

Predicted to enable DNA binding activity and metal ion binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB45 Gene

zinc finger and BTB domain containing 45

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB46 Gene

zinc finger and BTB domain containing 46

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB47 Gene

zinc finger and BTB domain containing 47

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB48 Gene

zinc finger and BTB domain containing 48

Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and transcription cis-regulatory region binding activity. Involved in positive regulation of DNA-templated transcription and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB49 Gene

zinc finger and BTB domain containing 49

Enables DNA-binding transcription factor binding activity; sequence-specific DNA binding activity; and transcription coactivator binding activity. Involved in negative regulation of cell population proliferation; positive regulation of transcription by RNA polymerase II; and regulation of cell cycle. Located in cytosol; microtubule cytoskeleton; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

WDTC1 Gene

WD and tetratricopeptide repeats 1

Predicted to enable enzyme inhibitor activity; histone binding activity; and histone deacetylase binding activity. Predicted to be involved in negative regulation of fatty acid biosynthetic process. Predicted to act upstream of or within several processes, including cellular response to insulin stimulus; glucose metabolic process; and negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of Cul4-RING E3 ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LASP1 Gene

LIM and SH3 protein 1

This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]

LIMA1 Gene

LIM domain and actin binding 1

This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]

LOC283804 Gene

disintegrin and metalloproteinase domain-containing protein 21-like

PDRG1 Gene

p53 and DNA-damage regulated 1

Predicted to enable unfolded protein binding activity. Predicted to be involved in protein stabilization. Part of RPAP3/R2TP/prefoldin-like complex. [provided by Alliance of Genome Resources, Mar 2025]

IFNAR2 Gene

interferon (alpha, beta and omega) receptor 2

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family. Mutations in this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]

IFNAR1 Gene

interferon (alpha, beta and omega) receptor 1

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family and functions as an antiviral factor. [provided by RefSeq, Jul 2020]

PDLIM4 Gene

PDZ and LIM domain 4

Enables alpha-actinin binding activity; protein homodimerization activity; and protein phosphatase binding activity. Involved in actin cytoskeleton organization. Located in several cellular components, including lamellipodium; perinuclear region of cytoplasm; and stress fiber. Part of filamentous actin. Implicated in osteoporosis. [provided by Alliance of Genome Resources, Mar 2025]

PDLIM5 Gene

PDZ and LIM domain 5

This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

PDLIM7 Gene

PDZ and LIM domain 7 (enigma)

The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

PDLIM1 Gene

PDZ and LIM domain 1

This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]

PDLIM2 Gene

PDZ and LIM domain 2 (mystique)

This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

PDLIM3 Gene

PDZ and LIM domain 3

The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]

FTO Gene

fat mass and obesity associated

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

PSD3 Gene

pleckstrin and Sec7 domain containing 3

Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction. Predicted to be located in membrane. Predicted to be active in glutamatergic synapse; postsynapse; and ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025]

RYBP Gene

RING1 and YY1 binding protein

Enables nucleic acid binding activity. Involved in several processes, including negative regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of DNA-templated transcription; and positive regulation of apoptotic process. Located in nucleoplasm. Part of PcG protein complex. [provided by Alliance of Genome Resources, Mar 2025]

HUWE1 Gene

HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase

This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]

ELMO1 Gene

engulfment and cell motility 1

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ELMO2 Gene

engulfment and cell motility 2

The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ELMO3 Gene

engulfment and cell motility 3

The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]

CPBHM Gene

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

BTLA Gene

B and T lymphocyte associated

This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]

LOC100128048 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

ECSCR Gene

endothelial cell surface expressed chemotaxis and apoptosis regulator

The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

DCBLD2 Gene

discoidin, CUB and LCCL domain containing 2

Predicted to enable signaling receptor activity. Involved in negative regulation of cell growth and wound healing. Located in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

DCBLD1 Gene

discoidin, CUB and LCCL domain containing 1

Predicted to enable signaling receptor activity. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MIIP Gene

migration and invasion inhibitory protein

This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]

LOC100420617 Gene

FERM and PDZ domain containing 2 pseudogene

LRTOMT Gene

leucine rich transmembrane and O-methyltransferase domain containing

This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021]

TMTC4 Gene

transmembrane and tetratricopeptide repeat containing 4

This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]

TMTC3 Gene

transmembrane and tetratricopeptide repeat containing 3

This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]

RAX Gene

retina and anterior neural fold homeobox

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

TMTC1 Gene

transmembrane and tetratricopeptide repeat containing 1

Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum and membrane. [provided by Alliance of Genome Resources, Mar 2025]

DCAF4L1 Gene

DDB1 and CUL4 associated factor 4-like 1

Predicted to be part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

DCAF4L2 Gene

DDB1 and CUL4 associated factor 4-like 2

Predicted to be part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB12P1 Gene

zinc finger and BTB domain containing 12 pseudogene 1

LOC728688 Gene

ubiquitin-like, containing PHD and RING finger domains, 1 pseudogene

ADIPOQ Gene

adiponectin, C1Q and collagen domain containing

This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]

FIP1L1 Gene

factor interacting with PAPOLA and CPSF1

This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

FBXW4P1 Gene

F-box and WD repeat domain containing 4 pseudogene 1

RCBTB2 Gene

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2

This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

RCBTB1 Gene

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]

KHNYN Gene

KH and NYN domain containing

The protein encoded by this gene contains a ribonuclease NYN domain and belongs to the N4BP1 family. The protein is a cofactor for the zinc finger antiviral protein (ZAP protein) which targets viral RNA for degradation and restricts SARS-CoV-2 infection. [provided by RefSeq, Sep 2021]

FTOP1 Gene

fat mass and obesity associated pseudogene 1

LOC100419579 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2 pseudogene

SPSB4 Gene

splA/ryanodine receptor domain and SOCS box containing 4

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including positive regulation of protein polyubiquitination; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

TANGO6 Gene

transport and golgi organization 6 homolog (Drosophila)

Predicted to be involved in protein secretion. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

TANGO2 Gene

transport and golgi organization 2 homolog (Drosophila)

This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]

SEMA6D Gene

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D

Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]

SEMA6B Gene

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B

This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]

SEMA6C Gene

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C

This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010]

SEMA6A Gene

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A

Predicted to enable identical protein binding activity; signaling receptor binding activity; and transmembrane signaling receptor activity. Involved in cellular response to vascular endothelial growth factor stimulus; negative regulation of cell adhesion involved in sprouting angiogenesis; and negative regulation of signal transduction. Predicted to be located in axon and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

BRE Gene

brain and reproductive organ-expressed (TNFRSF1A modulator)

This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]

PALB2 Gene

partner and localizer of BRCA2

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]

FBXL8 Gene

F-box and leucine-rich repeat protein 8

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]

FBXL2 Gene

F-box and leucine-rich repeat protein 2

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

FBXL7 Gene

F-box and leucine-rich repeat protein 7

This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

FBXL6 Gene

F-box and leucine-rich repeat protein 6

This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ZSCAN5D Gene

zinc finger and SCAN domain containing 5D

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN5A Gene

zinc finger and SCAN domain containing 5A

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN5B Gene

zinc finger and SCAN domain containing 5B

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LOC105377064 Gene

aspartate, glycine, lysine and serine-rich protein-like

NETO1 Gene

neuropilin (NRP) and tolloid (TLL)-like 1

This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2017]

NETO2 Gene

neuropilin (NRP) and tolloid (TLL)-like 2

This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

FGD5 Gene

FYVE, RhoGEF and PH domain containing 5

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in actin cytoskeleton organization; filopodium assembly; and regulation of cell shape. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

FGD4 Gene

FYVE, RhoGEF and PH domain containing 4

This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

FGD6 Gene

FYVE, RhoGEF and PH domain containing 6

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in actin cytoskeleton organization; filopodium assembly; and regulation of cell shape. Predicted to be located in Golgi apparatus; lamellipodium; and ruffle. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

FGD1 Gene

FYVE, RhoGEF and PH domain containing 1

This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]

FGD3 Gene

FYVE, RhoGEF and PH domain containing 3

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in actin cytoskeleton organization; filopodium assembly; and regulation of cell shape. Predicted to be located in Golgi apparatus; lamellipodium; and ruffle. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

FGD2 Gene

FYVE, RhoGEF and PH domain containing 2

The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]

SLC5A6 Gene

solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6

Enables biotin transmembrane transporter activity; iodide transmembrane transporter activity; and pantothenate transmembrane transporter activity. Involved in iodide transmembrane transport; transport across blood-brain barrier; and vitamin transmembrane transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB2 Gene

zinc finger and BTB domain containing 2

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB6 Gene

zinc finger and BTB domain containing 6

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB5 Gene

zinc finger and BTB domain containing 5

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB4 Gene

zinc finger and BTB domain containing 4

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; nucleotide binding activity; and protein homodimerization activity. Involved in DNA damage response and negative regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB9 Gene

zinc finger and BTB domain containing 9

Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ASB15 Gene

ankyrin repeat and SOCS box containing 15

This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

PATZ1 Gene

POZ (BTB) and AT hook containing zinc finger 1

The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]

CEND1P1 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 1

CEND1P2 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 2

STAM2 Gene

signal transducing adaptor molecule (SH3 domain and ITAM motif) 2

The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]

LRRD1 Gene

leucine-rich repeats and death domain containing 1

Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC100130891 Gene

PDZ and LIM domain 7 (enigma) pseudogene

SPOCK1 Gene

sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1

This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008]

SPOCK2 Gene

sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2

This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

SPOCK3 Gene

sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3

This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

CSRP1 Gene

cysteine and glycine-rich protein 1

This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]

CSRP3 Gene

cysteine and glycine-rich protein 3 (cardiac LIM protein)

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

CSRP2 Gene

cysteine and glycine-rich protein 2

CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

EGFLAM Gene

EGF-like, fibronectin type III and laminin G domains

Predicted to enable calcium ion binding activity and glycosaminoglycan binding activity. Predicted to act upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Part of cell surface. [provided by Alliance of Genome Resources, Mar 2025]

ARAP3 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]

ARAP2 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2

The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]

THRIL Gene

TNF and HNRNPL related immunoregulatory long non-coding RNA

CFAP74 Gene

cilia and flagella associated protein 74

Predicted to be involved in axoneme assembly. Located in cytoplasm; nucleus; and sperm flagellum. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Mar 2025]

CFAP70 Gene

cilia and flagella associated protein 70

Predicted to be involved in cilium assembly and cilium movement. Predicted to act upstream of or within several processes, including maintenance of cell number; single fertilization; and spermatid development. Located in ciliary basal body and sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41. [provided by Alliance of Genome Resources, Mar 2025]

NUSAP1 Gene

nucleolar and spindle associated protein 1

NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]

LOC100288203 Gene

WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene

LOC100421273 Gene

F-box and WD repeat domain containing 11 pseudogene

ZRSR2 Gene

zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2

This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]

CHMRQ Gene

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion

BPESC1 Gene

blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding)

MAMSTR Gene

MEF2 activating motif and SAP domain containing transcriptional regulator

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myotube differentiation and positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LRFN5 Gene

leucine rich repeat and fibronectin type III domain containing 5

This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]

ZSCAN12P1 Gene

zinc finger and SCAN domain containing 12 pseudogene 1

PHRF1 Gene

PHD and ring finger domains 1

Predicted to enable RNA polymerase binding activity. Predicted to be involved in protein ubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

DZANK1 Gene

double zinc ribbon and ankyrin repeat domains 1

This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. [provided by RefSeq, Dec 2018]

DUPD1 Gene

dual specificity phosphatase and pro isomerase domain containing 1

Enables protein homodimerization activity and protein tyrosine/serine/threonine phosphatase activity. Involved in protein dephosphorylation. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

TANC1 Gene

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1

Predicted to be involved in regulation of postsynapse organization. Predicted to act upstream of or within dendritic spine maintenance; myoblast fusion; and visual learning. Predicted to be located in several cellular components, including axon terminus; neuronal cell body; and postsynaptic density. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Mar 2025]

TANC2 Gene

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in dense core granule cytoskeletal transport; regulation of dendritic spine development; and regulation of dendritic spine morphogenesis. Predicted to act upstream of or within in utero embryonic development. Located in dendritic spine. Implicated in intellectual developmental disorder with autistic features and language delay, with or without seizures. [provided by Alliance of Genome Resources, Mar 2025]

KBTBD13 Gene

kelch repeat and BTB (POZ) domain containing 13

The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]

KBTBD12 Gene

kelch repeat and BTB (POZ) domain containing 12

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

KBTBD11 Gene

kelch repeat and BTB (POZ) domain containing 11

TRANK1 Gene

tetratricopeptide repeat and ankyrin repeat containing 1

DEFA1A3 Gene

defensin, alpha 1 and alpha 3, variable copy number locus

DPF2 Gene

D4, zinc and double PHD fingers family 2

The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]

DPF3 Gene

D4, zinc and double PHD fingers, family 3

This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

DPF1 Gene

D4, zinc and double PHD fingers family 1

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in nervous system development. Predicted to be located in nucleoplasm. Predicted to be part of nBAF complex. [provided by Alliance of Genome Resources, Mar 2025]

MICAL1 Gene

microtubule associated monooxygenase, calponin and LIM domain containing 1

This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

MICAL2 Gene

microtubule associated monooxygenase, calponin and LIM domain containing 2

The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]

MICAL3 Gene

microtubule associated monooxygenase, calponin and LIM domain containing 3

Enables actin binding activity and molecular adaptor activity. Involved in actin filament depolymerization. Located in several cellular components, including Flemming body; intercellular bridge; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

AGAP10P Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 pseudogene

CPED1 Gene

cadherin-like and PC-esterase domain containing 1

Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

SNRPB Gene

small nuclear ribonucleoprotein polypeptides B and B1

The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]

PTEN Gene

phosphatase and tensin homolog

This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

PHACTR2P1 Gene

phosphatase and actin regulator 2 pseudogene 1

SPSB3 Gene

splA/ryanodine receptor domain and SOCS box containing 3

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including negative regulation of cGAS/STING signaling pathway; negative regulation of epithelial to mesenchymal transition; and protein K48-linked ubiquitination. Part of Cul5-RING ubiquitin ligase complex. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SPSB2 Gene

splA/ryanodine receptor domain and SOCS box containing 2

This gene encodes a member of a subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine signaling (SOCS) box. This protein plays a role in cell signaling. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

SPSB1 Gene

splA/ryanodine receptor domain and SOCS box containing 1

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

RTCB Gene

RNA 2',3'-cyclic phosphate and 5'-OH ligase

Enables RNA ligase (GTP) activity and vinculin binding activity. Involved in tRNA splicing, via endonucleolytic cleavage and ligation. Located in cytosol and nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

FEZ1 Gene

fasciculation and elongation protein zeta 1 (zygin I)

This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]

FEZ2 Gene

fasciculation and elongation protein zeta 2 (zygin II)

This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]

SECTM1 Gene

secreted and transmembrane 1

This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008]

RALGPS2 Gene

Ral GEF with PH domain and SH3 binding motif 2

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

RALGPS1 Gene

Ral GEF with PH domain and SH3 binding motif 1

Enables guanyl-nucleotide exchange factor activity. Involved in regulation of Ral protein signal transduction. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRBA Gene

LPS-responsive vesicle trafficking, beach and anchor containing

The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

CHORDC1 Gene

cysteine and histidine-rich domain (CHORD) containing 1

Enables Hsp90 protein binding activity. Predicted to be involved in several processes, including centrosome duplication; chaperone-mediated protein folding; and negative regulation of Rho-dependent protein serine/threonine kinase activity. [provided by Alliance of Genome Resources, Mar 2025]

LRFN3 Gene

leucine rich repeat and fibronectin type III domain containing 3

Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and synaptic membrane adhesion. Predicted to be located in plasma membrane. Predicted to be active in cell surface; glutamatergic synapse; and synaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRFN2 Gene

leucine rich repeat and fibronectin type III domain containing 2

Predicted to be involved in modulation of chemical synaptic transmission and regulation of postsynapse organization. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; cell surface; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRFN1 Gene

leucine rich repeat and fibronectin type III domain containing 1

Predicted to be involved in regulation of postsynaptic density assembly. Predicted to be located in plasma membrane. Predicted to be active in cell surface; postsynaptic density membrane; and presynaptic active zone membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRFN4 Gene

leucine rich repeat and fibronectin type III domain containing 4

Predicted to be involved in regulation of postsynaptic density assembly; regulation of presynapse assembly; and synaptic membrane adhesion. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

OASD Gene

ocular albinism and sensorineural deafness

LOC100421064 Gene

sushi, nidogen and EGF-like domains 1 pseudogene

SVEP1 Gene

sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

Enables integrin binding activity. Involved in negative regulation of vasoconstriction and positive regulation of platelet activation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

GAPVD1 Gene

GTPase activating protein and VPS9 domains 1

Enables GTPase activating protein binding activity and guanyl-nucleotide exchange factor activity. Involved in regulation of protein transport. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

RC3H1 Gene

ring finger and CCCH-type domains 1

This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

RC3H2 Gene

ring finger and CCCH-type domains 2

Enables nucleic acid binding activity and ubiquitin protein ligase activity. Involved in protein polyubiquitination. Located in cell surface; intracellular membrane-bounded organelle; and membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100129367 Gene

nucleolar and coiled-body phosphoprotein 1 pseudogene

CFAP99 Gene

cilia and flagella associated protein 99

Predicted to be located in motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

LRWD1 Gene

leucine-rich repeats and WD repeat domain containing 1

The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

STAC Gene

SH3 and cysteine rich domain

Predicted to enable transmembrane transporter binding activity. Predicted to be involved in positive regulation of protein localization to plasma membrane; positive regulation of voltage-gated calcium channel activity; and skeletal muscle contraction. Predicted to act upstream of or within cellular response to heat; muscle contraction; and regulation of voltage-gated calcium channel activity. Predicted to be located in cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

STAM Gene

signal transducing adaptor molecule (SH3 domain and ITAM motif) 1

This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

ZBTB12 Gene

zinc finger and BTB domain containing 12

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB11 Gene

zinc finger and BTB domain containing 11

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 69. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB17 Gene

zinc finger and BTB domain containing 17

This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]

ZBTB16 Gene

zinc finger and BTB domain containing 16

This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

ZBTB14 Gene

zinc finger and BTB domain containing 14

Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in negative regulation of DNA-templated transcription. Located in aggresome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB18 Gene

zinc finger and BTB domain containing 18

This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

ARAP1 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1

The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

NXPE1 Gene

neurexophilin and PC-esterase domain family, member 1

Predicted to be located in extracellular region and membrane. [provided by Alliance of Genome Resources, Mar 2025]

NXPE2 Gene

neurexophilin and PC-esterase domain family, member 2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

NXPE3 Gene

neurexophilin and PC-esterase domain family, member 3

This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

NXPE4 Gene

neurexophilin and PC-esterase domain family, member 4

Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

KIN Gene

Kin17 DNA and RNA binding protein

The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

TPTE2P5 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5

LOC100421184 Gene

zinc finger and BTB domain containing 2 pseudogene

FRMPD2B Gene

FERM and PDZ domain containing 2B, pseudogene

This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene (FRMPD2, GeneID 143162). Along with the functional gene, this gene is located in a region of segmental duplication on chromosome 10q. [provided by RefSeq, Dec 2014]

LOC100128164 Gene

four and a half LIM domains 1 pseudogene

LAMTOR3P2 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 2

MAA Gene

microphthalmia or anophthalmia and associated anomalies

ZBTB10 Gene

zinc finger and BTB domain containing 10

Enables telomeric DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Located in chromosome, telomeric region and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ARGLU1 Gene

arginine and glutamate rich 1

Enables nuclear receptor coactivator activity and pre-mRNA binding activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in cytosol; mitochondrion; and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

LOC391048 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

DCAF13P2 Gene

DDB1 and CUL4 associated factor 13 pseudogene 2

DCAF13P1 Gene

DDB1 and CUL4 associated factor 13 pseudogene 1

SH3PXD2B Gene

SH3 and PX domains 2B

This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

SH3PXD2A Gene

SH3 and PX domains 2A

Predicted to enable superoxide-generating NADPH oxidase activator activity. Involved in osteoclast fusion and superoxide metabolic process. Located in podosome. [provided by Alliance of Genome Resources, Mar 2025]

LOC646377 Gene

pyrin and HIN domain family, member 1 pseudogene

POMZP3 Gene

POM121 and ZP3 fusion

This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]

APOBEC3A_B Gene

APOBEC3A and APOBEC3B deletion hybrid

This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. [provided by RefSeq, Jul 2012]

LOC100421372 Gene

zinc finger and SCAN domain containing 29 pseudogene

FBXW11P1 Gene

F-box and WD repeat domain containing 11 pseudogene 1

LOC100996375 Gene

angiogenic factor with G patch and FHA domains 1-like

LOC100862705 Gene

KN motif and ankyrin repeat domains 1 pseudogene

ANKHD1 Gene

ankyrin repeat and KH domain containing 1

This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]

TMCO1 Gene

transmembrane and coiled-coil domains 1

This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

TMCO2 Gene

transmembrane and coiled-coil domains 2

Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

TMCO4 Gene

transmembrane and coiled-coil domains 4

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

TMCO6 Gene

transmembrane and coiled-coil domains 6

Predicted to enable nuclear import signal receptor activity. Predicted to be involved in protein import into nucleus. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ANKIB1 Gene

ankyrin repeat and IBR domain containing 1

Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC100996813 Gene

multidrug and toxin extrusion protein 2-like

LRIT2 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRIT3 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]

LRIT1 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 1

Predicted to be involved in visual perception. Predicted to be located in dendrite; endoplasmic reticulum; and membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

UACA Gene

uveal autoantigen with coiled-coil domains and ankyrin repeats

This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]

FARP2 Gene

FERM, RhoGEF and pleckstrin domain protein 2

Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within Rac protein signal transduction and neuron remodeling. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

FARP1 Gene

FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)

This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

CCZ1 Gene

CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Mar 2025]

HAPLN1 Gene

hyaluronan and proteoglycan link protein 1

Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in nervous system development; positive regulation of neuroblast proliferation; and skeletal system development. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

HAPLN3 Gene

hyaluronan and proteoglycan link protein 3

This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]

HAPLN2 Gene

hyaluronan and proteoglycan link protein 2

Predicted to enable hyaluronic acid binding activity. Predicted to be involved in nervous system development; positive regulation of neuroblast proliferation; and skeletal system development. Predicted to act upstream of or within establishment of blood-nerve barrier and extracellular matrix assembly. Predicted to be located in extracellular matrix. Predicted to be active in extracellular space; perineuronal net; and synapse. [provided by Alliance of Genome Resources, Mar 2025]

PHLPP2 Gene

PH domain and leucine rich repeat protein phosphatase 2

Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in intracellular signal transduction. Located in several cellular components, including intercellular bridge; mitotic spindle; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

BRWD1P2 Gene

bromodomain and WD repeat domain containing 1 pseudogene 2

ODPF Gene

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

FBXW12 Gene

F-box and WD repeat domain containing 12

Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXW10 Gene

F-box and WD repeat domain containing 10

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXW11 Gene

F-box and WD repeat domain containing 11

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]

LOC100421810 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene

FIQTL1 Gene

fasting glucose and specific insulin levels

MRST Gene

Mental retardation, severe, with spasticity and tapetoretinal

SCIMP Gene

SLP adaptor and CSK interacting membrane protein

This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

SH3TC2 Gene

SH3 domain and tetratricopeptide repeats 2

This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]

SH3TC1 Gene

SH3 domain and tetratricopeptide repeats 1

CFAP46 Gene

cilia and flagella associated protein 46

Predicted to be involved in axoneme assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Mar 2025]

CFAP45 Gene

cilia and flagella associated protein 45

Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in 9+2 motile cilium; axonemal microtubule; and nucleoplasm. Implicated in visceral heterotaxy. [provided by Alliance of Genome Resources, Mar 2025]

CFAP43 Gene

cilia and flagella associated protein 43

This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]

RFWD2 Gene

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase

Enables ubiquitin protein ligase activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and response to ionizing radiation. Part of Cul4A-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

RFWD3 Gene

ring finger and WD repeat domain 3

Enables MDM2/MDM4 family protein binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including DNA metabolic process; regulation of cell cycle phase transition; and response to ionizing radiation. Located in nucleoplasm and site of double-strand break. Implicated in Fanconi anemia complementation group W. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF8 Gene

C1q and tumor necrosis factor related protein 8

Involved in positive regulation of cell motility. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF9 Gene

C1q and tumor necrosis factor related protein 9

Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF2 Gene

C1q and tumor necrosis factor related protein 2

Predicted to enable identical protein binding activity and signaling receptor binding activity. Predicted to be involved in regulation of lipid metabolic process. Predicted to act upstream of or within positive regulation of D-glucose import; positive regulation of MAPK cascade; and positive regulation of small molecule metabolic process. Predicted to be located in extracellular space. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF3 Gene

C1q and tumor necrosis factor related protein 3

Enables identical protein binding activity. Involved in several processes, including intracellular triglyceride homeostasis; negative regulation of non-canonical NF-kappaB signal transduction; and regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF1 Gene

C1q and tumor necrosis factor related protein 1

Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF6 Gene

C1q and tumor necrosis factor related protein 6

Enables identical protein binding activity. Predicted to be located in extracellular region and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF7 Gene

C1q and tumor necrosis factor related protein 7

Predicted to enable identical protein binding activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF4 Gene

C1q and tumor necrosis factor related protein 4

Predicted to enable cytokine activity. Involved in positive regulation of cytokine production and positive regulation of signal transduction. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF5 Gene

C1q and tumor necrosis factor related protein 5

This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]

LOC642574 Gene

IQ motif and ankyrin repeat domain-containing protein LOC642574

LRRCC1 Gene

leucine rich repeat and coiled-coil centrosomal protein 1

This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain. It associates with the centrosome throughout the cell cycle and accumulates on the mitotic centrosome. [provided by RefSeq, Mar 2017]

NYNRIN Gene

NYN domain and retroviral integrase containing

Predicted to enable RNA endonuclease activity and mRNA binding activity. Predicted to be involved in DNA integration; DNA synthesis involved in DNA repair; and DNA-templated DNA replication. Predicted to be located in membrane. Predicted to be active in cytoplasmic ribonucleoprotein granule and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

TKCR Gene

torticollis, keloids, cryptorchidism and renal dysplasia

CPAMD8 Gene

C3 and PZP-like, alpha-2-macroglobulin domain containing 8

This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]

PIPSL Gene

PIP5K1A and PSMD4-like, pseudogene

This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq, Jan 2009]

LOC100133261 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

SASH3 Gene

SAM and SH3 domain containing 3

The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009]

SASH1 Gene

SAM and SH3 domain containing 1

This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]

SENCR Gene

smooth muscle and endothelial cell enriched migration/differentiation-associated long non-coding RNA

VSIG10 Gene

V-set and immunoglobulin domain containing 10

Predicted to enable cell adhesion molecule binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in membrane. Predicted to be active in cell-cell junction and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC642131 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

HMSNO Gene

Neuropathy, hereditary motor and sensory, Okinawa type

TIMD4 Gene

T-cell immunoglobulin and mucin domain containing 4

Predicted to enable phosphatidylserine binding activity. Predicted to be involved in apoptotic cell clearance and cytoskeletal rearrangement involved in phagocytosis, engulfment. Predicted to be located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

VWCE Gene

von Willebrand factor C and EGF domains

Predicted to enable calcium ion binding activity. Predicted to be involved in cellular response to virus. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC100379290 Gene

transmembrane and coiled-coil domain family 1 pseudogene

TNAP Gene

TRAFs and NIK-associated protein

PINLYP Gene

phospholipase A2 inhibitor and LY6/PLAUR domain containing

Predicted to enable phospholipase inhibitor activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

CFAP52 Gene

cilia and flagella associated protein 52

WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]

ASZ1 Gene

ankyrin repeat, SAM and basic leucine zipper domain containing 1

Predicted to be involved in male meiotic nuclear division; spermatogenesis; and transposable element silencing. Predicted to be located in cytoplasm. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Mar 2025]

SNRPBP1 Gene

small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1

DFCTRPS Gene

Deafness, cataract, retinitis pigmentosa, and sperm abnormalities

ZBTB22 Gene

zinc finger and BTB domain containing 22

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB20 Gene

zinc finger and BTB domain containing 20

This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

ZBTB21 Gene

zinc finger and BTB domain containing 21

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; POZ domain binding activity; and methyl-CpG binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZBTB25 Gene

zinc finger and BTB domain containing 25

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LAMTOR4 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 4

Contributes to guanyl-nucleotide exchange factor activity and molecular adaptor activity. Involved in several processes, including cellular response to amino acid stimulus; positive regulation of TORC1 signaling; and protein localization to lysosome. Located in lysosome. Part of FNIP-folliculin RagC/D GAP and Ragulator complex. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

LAMTOR5 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 5

This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]

LAMTOR1 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 1

Enables GTPase binding activity and protein-membrane adaptor activity. Contributes to guanyl-nucleotide exchange factor activity and molecular adaptor activity. Involved in several processes, including cholesterol homeostasis; positive regulation of TORC1 signaling; and regulation of cholesterol transport. Located in lysosome. Part of FNIP-folliculin RagC/D GAP. Is active in Ragulator complex and lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

LAMTOR2 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

LAMTOR3 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 3

This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]

STAC2 Gene

SH3 and cysteine rich domain 2

This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of this gene has been observed in human heart failure. [provided by RefSeq, May 2017]

STAC3 Gene

SH3 and cysteine rich domain 3

The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]

UHRF2P1 Gene

ubiquitin-like with PHD and ring finger domains 2 pseudogene 1

LEKR1 Gene

leucine, glutamate and lysine rich 1

WDSUB1 Gene

WD repeat, sterile alpha motif and U-box domain containing 1

Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Mar 2025]

TRIOBP Gene

TRIO and F-actin binding protein

This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

BAALC Gene

brain and acute leukemia, cytoplasmic

This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]

TEPP Gene

testis, prostate and placenta expressed

Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Predicted to be active in axonemal A tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

PKHD1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

VSIG8 Gene

V-set and immunoglobulin domain containing 8

Enables RNA binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

VSIG4 Gene

V-set and immunoglobulin domain containing 4

This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

VSIG2 Gene

V-set and immunoglobulin domain containing 2

Predicted to be involved in lipid metabolic process. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

VSIG1 Gene

V-set and immunoglobulin domain containing 1

This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

SPATC1 Gene

spermatogenesis and centriole associated 1

Predicted to enable gamma-tubulin binding activity. Located in centrosome. [provided by Alliance of Genome Resources, Mar 2025]

TAMM41 Gene

TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)

Predicted to enable phosphatidate cytidylyltransferase activity. Predicted to be involved in CDP-diacylglycerol biosynthetic process and cardiolipin biosynthetic process. Is active in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 56. [provided by Alliance of Genome Resources, Mar 2025]

GCSAM Gene

germinal center-associated, signaling and motility

This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

EEC2 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

EEC1 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

LOC102723815 Gene

disintegrin and metalloproteinase domain-containing protein 29-like

ASB2 Gene

ankyrin repeat and SOCS box containing 2

This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

ASB3 Gene

ankyrin repeat and SOCS box containing 3

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]

ASB1 Gene

ankyrin repeat and SOCS box containing 1

The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]

ASB6 Gene

ankyrin repeat and SOCS box containing 6

The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

ASB7 Gene

ankyrin repeat and SOCS box containing 7

The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

ASB4 Gene

ankyrin repeat and SOCS box containing 4

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]

ASB5 Gene

ankyrin repeat and SOCS box containing 5

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]

ASB8 Gene

ankyrin repeat and SOCS box containing 8

Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

ASB9 Gene

ankyrin repeat and SOCS box containing 9

This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

SAG Gene

S-antigen; retina and pineal gland (arrestin)

Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]

PROC Gene

protein C (inactivator of coagulation factors Va and VIIIa)

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]

LOC100422285 Gene

cleavage and polyadenylation specific factor 1, 160kDa pseudogene

ZSCAN32 Gene

zinc finger and SCAN domain containing 32

Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN31 Gene

zinc finger and SCAN domain containing 31

This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ZSCAN30 Gene

zinc finger and SCAN domain containing 30

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF9B Gene

C1q and tumor necrosis factor related protein 9B

Predicted to enable hormone activity and identical protein binding activity. Predicted to act upstream of or within several processes, including negative regulation of cell size; positive regulation of cellular response to insulin stimulus; and positive regulation of protein serine/threonine kinase activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Mar 2025]

LOC392268 Gene

neuropilin (NRP) and tolloid (TLL)-like 2 pseudogene

MFI2 Gene

antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5

The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]

WHAMMP3 Gene

WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3

WHAMMP2 Gene

WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2

WHAMMP1 Gene

WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 1

IQUB Gene

IQ motif and ubiquitin domain containing

Involved in flagellated sperm motility and mating. Predicted to be located in sperm flagellum. Predicted to be part of radial spoke. Predicted to be active in acrosomal vesicle and motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

TMIGD1 Gene

transmembrane and immunoglobulin domain containing 1

Predicted to enable cell-cell adhesion mediator activity and protein homodimerization activity. Involved in several processes, including negative regulation of apoptotic process; regulation of cell migration; and regulation of membrane permeability. Located in cytosol; mitochondrion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MALRD1 Gene

MAM and LDL receptor class A domain containing 1

This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017]

ASB11 Gene

ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

CFAP97 Gene

cilia and flagella associated protein 97

Predicted to be involved in spermatogenesis. [provided by Alliance of Genome Resources, Mar 2025]

TPTE2P2 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 2

TPTE2P3 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3

TPTE2P1 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1

TPTE2P6 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6

TPTE2P4 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 4

SEMA4A Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

SEMA4B Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Predicted to be involved in several processes, including axon guidance; neural crest cell migration; and semaphorin-plexin signaling pathway. Predicted to be located in membrane and synapse. Predicted to be active in glutamatergic synapse and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4C Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Involved in muscle cell differentiation and positive regulation of stress-activated MAPK cascade. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4D Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D

Enables identical protein binding activity; semaphorin receptor binding activity; and transmembrane signaling receptor activity. Involved in several processes, including ossification involved in bone maturation; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and regulation of neuron projection development. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4F Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F

This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

SEMA4G Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

TMCO3 Gene

transmembrane and coiled-coil domains 3

This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract. [provided by RefSeq, Mar 2017]

DCAF13P3 Gene

DDB1 and CUL4 associated factor 13 pseudogene 3

BZW1 Gene

basic leucine zipper and W2 domains 1

Enables RNA binding activity and cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

BZW2 Gene

basic leucine zipper and W2 domains 2

Enables cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CNNM1 Gene

cyclin and CBS domain divalent metal cation transport mediator 1

This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

CNNM3 Gene

cyclin and CBS domain divalent metal cation transport mediator 3

Predicted to enable transmembrane transporter activity. Predicted to be involved in magnesium ion homeostasis. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

CNNM2 Gene

cyclin and CBS domain divalent metal cation transport mediator 2

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

CNNM4 Gene

cyclin and CBS domain divalent metal cation transport mediator 4

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]

CC2D1A Gene

coiled-coil and C2 domain containing 1A

This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]

CC2D1B Gene

coiled-coil and C2 domain containing 1B

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC100131556 Gene

zinc finger CCHC-type and RNA binding motif 1 pseudogene

LOC100131553 Gene

disintegrin and metalloproteinase domain-containing protein 21-like

BCCIP Gene

BRCA2 and CDKN1A interacting protein

This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

STUB1 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

SOHLH1 Gene

spermatogenesis and oogenesis specific basic helix-loop-helix 1

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

SOHLH2 Gene

spermatogenesis and oogenesis specific basic helix-loop-helix 2

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

ZCRB1 Gene

zinc finger CCHC-type and RNA binding motif 1

Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]

RAX2 Gene

retina and anterior neural fold homeobox 2

This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

UCMA Gene

upper zone of growth plate and cartilage matrix associated

This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

SND1 Gene

staphylococcal nuclease and tudor domain containing 1

This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]

LOC100422402 Gene

RAS guanyl releasing protein 2 (calcium and DAG-regulated) pseudogene

LOC100129957 Gene

PC4 and SFRS1 interacting protein 1 pseudogene

LINGO4 Gene

leucine rich repeat and Ig domain containing 4

Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LINGO3 Gene

leucine rich repeat and Ig domain containing 3

Predicted to be located in membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LINGO2 Gene

leucine rich repeat and Ig domain containing 2

Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. Predicted to be active in several cellular components, including extracellular space; glutamatergic synapse; and synaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

LINGO1 Gene

leucine rich repeat and Ig domain containing 1

Predicted to enable epidermal growth factor receptor binding activity. Predicted to act upstream of or within negative regulation of oligodendrocyte differentiation; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and neuron development. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including extracellular space; glutamatergic synapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder 64 and glaucoma. [provided by Alliance of Genome Resources, Mar 2025]

STAT4 Gene

signal transducer and activator of transcription 4

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]

STAT3 Gene

signal transducer and activator of transcription 3 (acute-phase response factor)

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]

STAT2 Gene

signal transducer and activator of transcription 2, 113kDa

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]

STAT1 Gene

signal transducer and activator of transcription 1, 91kDa

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]

ELFN1 Gene

extracellular leucine-rich repeat and fibronectin type III domain containing 1

Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in synapse organization. Predicted to act upstream of or within several processes, including chemical synaptic transmission; synapse assembly; and visual perception. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in several cellular components, including axon terminus; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

ELFN2 Gene

extracellular leucine-rich repeat and fibronectin type III domain containing 2

Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in synaptic membrane adhesion. Predicted to act upstream of or within chemical synaptic transmission; establishment of protein localization; and gene expression. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

ACAP1 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1

Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in protein transport. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ACAP3 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to act upstream of or within neuron migration and regulation of neuron projection development. Predicted to be located in endosome membrane and growth cone. [provided by Alliance of Genome Resources, Mar 2025]

ZNRF2P1 Gene

zinc and ring finger 2 pseudogene 1

ZNRF2P3 Gene

zinc and ring finger 2 pseudogene 3

ZNRF2P2 Gene

zinc and ring finger 2 pseudogene 2

PTRF Gene

polymerase I and transcript release factor

This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]

CARMIL1 Gene

capping protein regulator and myosin 1 linker 1

Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

BUD23 Gene

BUD23 rRNA methyltransferase and ribosome maturation factor

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]

PABIR1 Gene

PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1

Enables protein phosphatase 2A binding activity and protein serine/threonine phosphatase inhibitor activity. Involved in mitotic G2/M transition checkpoint; positive regulation of cell growth; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytoplasm and nuclear body. [provided by Alliance of Genome Resources, Mar 2025]

EIPR1 Gene

EARP complex and GARP complex interacting protein 1

This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]

CFAP251 Gene

cilia and flagella associated protein 251

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

SPINDOC Gene

spindlin interactor and repressor of chromatin binding

Involved in DNA damage response and negative regulation of DNA-templated transcription. Is active in nucleus and site of DNA damage. [provided by Alliance of Genome Resources, Mar 2025]

ELAPOR1 Gene

endosome-lysosome associated apoptosis and autophagy regulator 1

Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

DCAF1 Gene

DDB1 and CUL4 associated factor 1

Enables histone H2AT120 kinase activity; nuclear estrogen receptor binding activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including cell competition in a multicellular organism; proteasome-mediated ubiquitin-dependent protein catabolic process; and regulation of primary metabolic process. Located in COP9 signalosome; fibrillar center; and nucleoplasm. Part of Cul4-RING E3 ubiquitin ligase complex. Is active in centrosome. [provided by Alliance of Genome Resources, Mar 2025]

ECPAS Gene

Ecm29 proteasome adaptor and scaffold

Enables proteasome binding activity. Involved in ERAD pathway. Located in several cellular components, including centrosome; cytoplasmic vesicle; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CARMIL2 Gene

capping protein regulator and myosin 1 linker 2

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

RTRAF Gene

RNA transcription, translation and transport factor

Enables RNA binding activity; RNA polymerase II complex binding activity; and identical protein binding activity. Involved in negative regulation of protein kinase activity; positive regulation of transcription by RNA polymerase II; and tRNA splicing, via endonucleolytic cleavage and ligation. Located in microtubule cytoskeleton; nucleoplasm; and perinuclear region of cytoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

BABAM2 Gene

BRISC and BRCA1 A complex member 2

This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]

CFAP298 Gene

cilia and flagella associated protein 298

This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]

CFAP65 Gene

cilia and flagella associated protein 65

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]

DERPC Gene

DERPC proline and glycine rich nuclear protein

Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CPLANE1 Gene

ciliogenesis and planar polarity effector complex subunit 1

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

LARGE2 Gene

LARGE xylosyl- and glucuronyltransferase 2

Predicted to enable dystroglycan binding activity; glucuronosyltransferase activity; and xylosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

CFAP410 Gene

cilia and flagella associated protein 410

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

MARF1 Gene

meiosis regulator and mRNA stability factor 1

This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]

MICOS10 Gene

mitochondrial contact site and cristae organizing system subunit 10

Involved in cristae formation. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Mar 2025]

BCLAF3 Gene

BCLAF1 and THRAP3 family member 3

Predicted to enable DNA binding activity and transcription coregulator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion. Predicted to be part of mediator complex. [provided by Alliance of Genome Resources, Mar 2025]

PLAAT3 Gene

phospholipase A and acyltransferase 3

Enables N-acyltransferase activity; lipid binding activity; and phospholipase activity. Involved in N-acylphosphatidylethanolamine metabolic process. Predicted to be located in several cellular components, including lysosome; nuclear envelope; and peroxisome. Predicted to be active in cytoplasm. Biomarker of seminoma. [provided by Alliance of Genome Resources, Mar 2025]

ATP23 Gene

ATP23 metallopeptidase and ATP synthase assembly factor homolog

The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

EPOP Gene

elongin BC and polycomb repressive complex 2 associated protein

Predicted to enable chromatin binding activity. Predicted to be involved in neuron fate commitment; regulation of transcription by RNA polymerase II; and stem cell differentiation. Predicted to be located in chromosome and nucleus. Predicted to be part of ESC/E(Z) complex and elongin complex. [provided by Alliance of Genome Resources, Mar 2025]

TEDC1 Gene

tubulin epsilon and delta complex 1

Predicted to be involved in positive regulation of smoothened signaling pathway. Predicted to be located in centriole and cilium. [provided by Alliance of Genome Resources, Mar 2025]

TEDC2 Gene

tubulin epsilon and delta complex 2

Predicted to be involved in positive regulation of smoothened signaling pathway. Predicted to be located in centriole and cilium. [provided by Alliance of Genome Resources, Mar 2025]

MICOS13 Gene

mitochondrial contact site and cristae organizing system subunit 13

Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Mar 2025]

WDCP Gene

WD repeat and coiled coil containing

Enables kinase binding activity. Involved in protein complex oligomerization. [provided by Alliance of Genome Resources, Mar 2025]

SCYGR4 Gene

small cysteine and glycine repeat containing 4

Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Mar 2025]

TCIM Gene

transcriptional and immune response regulator

This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011]

GARRE1 Gene

granule associated Rac and RHOG effector 1

Enables CCR4-NOT complex binding activity and small GTPase binding activity. Involved in Rac protein signal transduction. Located in P-body. [provided by Alliance of Genome Resources, Mar 2025]

PLAAT4 Gene

phospholipase A and acyltransferase 4

Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008]

PLAAT1 Gene

phospholipase A and acyltransferase 1

Enables acyltransferase activity, transferring groups other than amino-acyl groups and phospholipase activity. Involved in N-acylphosphatidylethanolamine metabolic process and phosphatidylcholine metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

EOLA2 Gene

endothelium and lymphocyte associated ASCH domain 2

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

EOLA1 Gene

endothelium and lymphocyte associated ASCH domain 1

Involved in regulation of interleukin-6 production. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

LARGE1 Gene

LARGE xylosyl- and glucuronyltransferase 1

This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]

PLAAT2 Gene

phospholipase A and acyltransferase 2

The protein encoded by this gene has both phospholipase and acyltransferase activities and acts as a tumor suppressor. The encoded protein can hydrolyze dipalmitoylated phosphatidylcholine (PC) to palmitic acid and lyso-PC. In addition, this protein can catalyze the N-acylation of phosphatidylethanolamine and can catalyze the O-acylation of lyso-PC to form PC. [provided by RefSeq, Jul 2016]

CFAP418 Gene

cilia and flagella associated protein 418

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

CFAP77 Gene

cilia and flagella associated protein 77

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

CARMIL3 Gene

capping protein regulator and myosin 1 linker 3

Predicted to be involved in cell migration and regulation of Arp2/3 complex-mediated actin nucleation. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CFAP119 Gene

cilia and flagella associated protein 119

Predicted to act upstream of or within gene expression; single fertilization; and sperm flagellum assembly. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be part of radial spoke. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025]

TAMALIN Gene

trafficking regulator and scaffold protein tamalin

This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]

ABTB3 Gene

ankyrin repeat and BTB domain containing 3

Predicted to enable PDZ domain binding activity and protein heterodimerization activity. Predicted to act upstream of or within exploration behavior; glutamatergic synaptic transmission; and protein stabilization. Predicted to be located in glutamatergic synapse and membrane. [provided by Alliance of Genome Resources, Mar 2025]

CFAP210 Gene

cilia and flagella associated protein 210

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

PALM2AKAP2 Gene

PALM2 and AKAP2 fusion

This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019]

CFAP300 Gene

cilia and flagella associated protein 300

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Mar 2025]

C1QTNF12 Gene

C1q and TNF related 12

Predicted to enable hormone activity. Predicted to be involved in negative regulation of gluconeogenesis; positive regulation of D-glucose import; and positive regulation of insulin receptor signaling pathway. Predicted to act upstream of or within negative regulation of inflammatory response; positive regulation of cell communication; and regulation of glucose metabolic process. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

NEPRO Gene

nucleolus and neural progenitor protein

Predicted to be involved in negative regulation of neuron differentiation and positive regulation of Notch signaling pathway. Predicted to be located in nucleolus. Predicted to be active in nucleus. Implicated in anauxetic dysplasia 3. [provided by Alliance of Genome Resources, Mar 2025]

PLAAT5 Gene

phospholipase A and acyltransferase 5

Enables N-acyltransferase activity; phospholipase A1 activity; and phospholipase A2 activity. Acts upstream of or within N-acylphosphatidylethanolamine metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CPLANE2 Gene

ciliogenesis and planar polarity effector complex subunit 2

Predicted to enable GTP binding activity. Predicted to be involved in cilium assembly; protein localization; and regulation of vesicle-mediated transport. Predicted to act upstream of or within several processes, including axoneme assembly; endocardial cushion fusion; and regulation of smoothened signaling pathway. Located in centriole; ciliary basal body; and ciliary transition zone. [provided by Alliance of Genome Resources, Mar 2025]

CFAP100 Gene

cilia and flagella associated protein 100

Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

NEXMIF Gene

neurite extension and migration factor

An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]

CFAP157 Gene

cilia and flagella associated protein 157

Predicted to enable microtubule binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CFAP141 Gene

cilia and flagella associated protein 141

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

SANBR Gene

SANT and BTB domain regulator of CSR

Predicted to enable identical protein binding activity. Predicted to be involved in isotype switching. [provided by Alliance of Genome Resources, Mar 2025]

ELAPOR2 Gene

endosome-lysosome associated apoptosis and autophagy regulator family member 2

Predicted to enable BMP receptor binding activity. Predicted to be involved in negative regulation of nervous system development; positive regulation of BMP signaling pathway; and positive regulation of epidermis development. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ALKAL1 Gene

ALK and LTK ligand 1

Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

MPIG6B Gene

megakaryocyte and platelet inhibitory receptor G6b

This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FBXL9P Gene

F-box and leucine rich repeat protein, pseudogene

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]

ZSCAN5DP Gene

zinc finger and SCAN domain containing 5D pseudogene

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

FBXL21P Gene

F-box and leucine rich repeat protein 21, pseudogene

This locus represents a transcribed pseudogene that is related to genes encoding members of the F-box family of proteins. [provided by RefSeq, Nov 2017]

CFAP68 Gene

cilia and flagella associated protein 68

Predicted to be involved in flagellated sperm motility. Located in axoneme and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CFAP91 Gene

cilia and flagella associated protein 91

Involved in axonemal central apparatus assembly and spermatogenesis. Predicted to be located in motile cilium and radial spoke stalk. Implicated in spermatogenic failure 51. [provided by Alliance of Genome Resources, Mar 2025]

CFAP161 Gene

cilia and flagella associated protein 161

Predicted to be involved in cilium assembly and flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

CFAP206 Gene

cilia and flagella associated protein 206

Predicted to be involved in regulation of cilium beat frequency; regulation of flagellated sperm motility; and sperm axoneme assembly. Predicted to be located in A axonemal microtubule and motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

FBXW10B Gene

F-box and WD repeat domain containing 10B

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

PPDPFL Gene

pancreatic progenitor cell differentiation and proliferation factor like

Predicted to be involved in cell differentiation. [provided by Alliance of Genome Resources, Mar 2025]

CFAP107 Gene

cilia and flagella associated protein 107

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

CFAP299 Gene

cilia and flagella associated protein 299

Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CFAP276 Gene

cilia and flagella associated protein 276

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

CFAP92 Gene

cilia and flagella associated protein 92 (putative)

HOATZ Gene

HOATZ cilia and flagella associated protein

Predicted to be involved in axoneme assembly; flagellated sperm motility; and spermatogenesis. Predicted to be located in cilium and cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ZSCAN5C Gene

zinc finger and SCAN domain containing 5C

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CFAP73 Gene

cilia and flagella associated protein 73

Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement; inner dynein arm assembly; and spermatid development. Predicted to be located in axonemal doublet microtubule and motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

CFAP90 Gene

cilia and flagella associated protein 90

Predicted to be involved in flagellated sperm motility. Located in axoneme and ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

ALKAL2 Gene

ALK and LTK ligand 2

Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

SERTM2 Gene

serine rich and transmembrane domain containing 2

Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

CFAP95 Gene

cilia and flagella associated protein 95

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

RHEX Gene

regulator of hemoglobinization and erythroid cell expansion

Enables erythropoietin receptor binding activity. Involved in erythropoietin-mediated signaling pathway and positive regulation of erythrocyte differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

IQANK1 Gene

IQ motif and ankyrin repeat containing 1

SRARP Gene

steroid receptor associated and regulated protein

Enables nuclear estrogen receptor binding activity. Involved in positive regulation of intracellular estrogen receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LIX1-AS1 Gene

LIX1 and RIOK2 antisense RNA 1

TSPOAP1-AS1 Gene

TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1

PIRAT1 Gene

PU.1 (SP1) induced regulator of S100A8 and S100A9 alarmin transcription 1

CERNA1 Gene

competing endogenous lncRNA 1 for miR-4707-5p and miR-4767

MROCKI Gene

MARCKS cis regulating lncRNA promoter of cytokines and inflammation

KCNK15-AS1 Gene

KCNK15 and WISP2 antisense RNA 1

ZBTB12BP Gene

zinc finger and BTB domain containing 12B, pseudogene

PLEKHM1P1 Gene

pleckstrin homology and RUN domain containing M1 pseudogene 1

PELATON Gene

plaque enriched lncRNA in atherosclerotic and inflammatory bowel macrophage regulation

AGAP12P Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 12, pseudogene

MIR200CHG Gene

MIR200C and MIR141 host gene

MIR29B2CHG Gene

MIR29B2 and MIR29C host gene

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

RLIG1 Gene

RNA 5'-phosphate and 3'-OH ligase 1

Enables RNA ligase (ATP) activity. Involved in response to reactive oxygen species. [provided by Alliance of Genome Resources, Mar 2025]

TMDD1 Gene

transmembrane and death domain 1

Predicted to be involved in signal transduction. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

FIRRM Gene

FIGNL1 interacting regulator of recombination and mitosis

Enables protein kinase binding activity. Involved in several processes, including chromosome segregation; interstrand cross-link repair; and regulation of protein kinase activity. Located in several cellular components, including kinetochore; midbody; and spindle midzone. [provided by Alliance of Genome Resources, Mar 2025]

CFAP96 Gene

cilia and flagella associated protein 96

Located in 9+0 non-motile cilium; centrosome; and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Mar 2025]

PRADX Gene

PRC2 and DDX5 associated lncRNA

KIF23-AS1 Gene

KIF23 and PAQR5 antisense RNA 1

CHMP3-AS1 Gene

CHMP3 and RNF103 antisense RNA 1

MHENCR Gene

melanoma highly expressed competing endogenous lncRNA for miR-425 and miR-489

MIR3677HG Gene

MIR3677 and MIR940 host gene

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

HRG-AS1 Gene

HRG and FETUB antisense RNA 1

ZNF225-AS1 Gene

ZNF225 and ZNF224 antisense RNA 1

LITATS1 Gene

lncRNA induced by TGF-beta and antagonizes TGF-beta signaling 1

ARHGAP44-AS1 Gene

ARHGAP44 and MYOCD antisense RNA 1

LNC-LBCS Gene

lncRNA bladder and prostate cancer suppressor, hnRNPK interacting

SCYGR6 Gene

small cysteine and glycine repeat containing 6

Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Mar 2025]

SCYGR10 Gene

small cysteine and glycine repeat containing 10 (gene/pseudogene)

This gene is a member of a large gene family that encodes keratin associated proteins (KRTAP) that play a role in hair formation. This gene belongs to a subfamily of the KRTAP family termed small cysteine and glycine repeat containing (SCYGR) genes and it resides in a cluster of SCYGR genes on chromosome 2q36.3. Allelic polymorphisms in this gene result in both coding and non-coding transcripts; the reference genome represents the non-coding allele. [provided by RefSeq, Jan 2024]

KPLCE Gene

KPRP N-terminal and LCE C-terminal like protein

Predicted to be involved in epidermis development. [provided by Alliance of Genome Resources, Mar 2025]

CPAP Gene

centrosome assembly and centriole elongation protein

This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

HEMK2 Gene

HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine

This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Mar 2023]

CFAP144 Gene

cilia and flagella associated protein 144

Enables microtubule binding activity. Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

SCYGR1 Gene

small cysteine and glycine repeat containing 1

SCYGR7 Gene

small cysteine and glycine repeat containing 7

SCYGR8 Gene

small cysteine and glycine repeat containing 8

SCYGR3 Gene

small cysteine and glycine repeat containing 3

SCYGR2 Gene

small cysteine and glycine repeat containing 2

SCYGR5 Gene

small cysteine and glycine repeat containing 5

CIRSR Gene

corepressor of RBPJ and splicing regulator

Enables histone deacetylase binding activity; protein kinase binding activity; and transcription corepressor activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in centrosome and nuclear speck. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

PGCKA1 Gene

PDCD10 and GCKIII kinases associated 1

RUMY1 Gene

regulator of UNG2 and MKLN1 interacting yippee protein 1

Predicted to act upstream of or within positive regulation of apoptotic process. Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

HDIP1 Gene

HDAC and MIER1 interacting protein 1

ZBTB35 Gene

zinc finger and BTB domain containing 35

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in intermediate filament cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PGBDF Gene

plakoglobin binding and degradation factor

Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

inositol hexakisphosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol hexakisphosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol hexakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol hexakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol hexakisphosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol hexakisphosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol hexakisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol hexakisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol hexakisphosphate 1-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol hexakisphosphate 1-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol hexakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol hexakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol hexakisphosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol hexakisphosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol hexakisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol hexakisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol hexakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol hexakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol hexakisphosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol hexakisphosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol hexakisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol hexakisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol hexakisphosphate 2-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol hexakisphosphate 2-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-hexakisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-hexakisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol hexakisphosphate binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol hexakisphosphate binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Myo-inositol hexakisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Myo-inositol hexakisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3) Gene Set

From HumanCyc Pathways

proteins participating in the 1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3) pathway from the HumanCyc Pathways dataset.

1D-myo-inositol hexakisphosphate biosynthesis II (mammalian) Gene Set

From HumanCyc Pathways

proteins participating in the 1D-myo-inositol hexakisphosphate biosynthesis II (mammalian) pathway from the HumanCyc Pathways dataset.

inositol hexakisphosphate binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol hexakisphosphate binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol hexakisphosphate 2-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol hexakisphosphate 2-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-hexakisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-hexakisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

Myo-inositol hexakisphosphate Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for Myo-inositol hexakisphosphate metabolite from the MW Gene Metabolite Associations dataset.

inositol hexakisphosphate binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol hexakisphosphate binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-hexakisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-hexakisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol hexakisphosphate 2-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol hexakisphosphate 2-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

map kinase kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Mitogen-activated protein (MAP) kinase kinase kinase kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

MAP kinase kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the MAP kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

MAP kinase kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the MAP kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

diphosphoinositol tetrakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the diphosphoinositol tetrakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

mitogen-activated protein kinase kinase kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

map kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

jun kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the jun kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Mitogen-activated protein (MAP) kinase kinase kinase, MLK1/MLK2/MLK4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase, MLK1/MLK2/MLK4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein kinase kinase kinase 13 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein kinase kinase kinase 12 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase kinase kinase 7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase kinase kinase 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase kinase kinase 14 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase kinase kinase 10 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein kinase kinase kinase 12/13 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 12/13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade Gene Set

From PANTHER Pathways

proteins participating in the Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade pathway from the PANTHER Pathways dataset.

mitogen-activated protein kinase kinase kinase binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

MAP kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the MAP kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

JUN kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the JUN kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

mitogen-activated protein kinase kinase kinase binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

MAP kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the MAP kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

JUN kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the JUN kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

diphosphoinositol Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term diphosphoinositol in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

diphosphoinositol polyphosphate catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the diphosphoinositol polyphosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

diphosphoinositol polyphosphate metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the diphosphoinositol polyphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

diphosphoinositol-polyphosphate diphosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the diphosphoinositol-polyphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

diphosphoinositol polyphosphate catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the diphosphoinositol polyphosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

diphosphoinositol polyphosphate metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the diphosphoinositol polyphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

diphosphoinositol-polyphosphate diphosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the diphosphoinositol-polyphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

diphosphoinositol polyphosphate catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the diphosphoinositol polyphosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

diphosphoinositol polyphosphate metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the diphosphoinositol polyphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

diphosphoinositol-polyphosphate diphosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the diphosphoinositol-polyphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

hexakisphosphate Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hexakisphosphate in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

inositol-1,4,5-trisphosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,4,5-trisphosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,3,4-trisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,3,4-trisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,4,5-trisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,4,5-trisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol tetrakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol tetrakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol tetrakisphosphate 1-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol tetrakisphosphate 1-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,3,4-trisphosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,3,4-trisphosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol trisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol trisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-3,4,6-trisphosphate 1-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-3,4,6-trisphosphate 1-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol tetrakisphosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol tetrakisphosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Inositol-tetrakisphosphate 1-kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol-tetrakisphosphate 1-kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol polyphosphate kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol polyphosphate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

inositol heptakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol heptakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,4,5-trisphosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,4,5-trisphosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol tetrakisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol tetrakisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol tetrakisphosphate 1-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol tetrakisphosphate 1-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,3,4-trisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,3,4-trisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,3,4-trisphosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,3,4-trisphosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol tetrakisphosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol tetrakisphosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol tetrakisphosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol tetrakisphosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol diphosphate tetrakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol diphosphate tetrakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol tetrakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol tetrakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol trisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol trisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,4,5-trisphosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,4,5-trisphosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,3,4,5-tetrakisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,3,4,5-tetrakisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-3,4,5,6-tetrakisphosphate 1-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-3,4,5,6-tetrakisphosphate 1-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,3,4-trisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,3,4-trisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,3,4-trisphosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,3,4-trisphosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,4,5-trisphosphate 6-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,4,5-trisphosphate 6-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,4,5,6-tetrakisphosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,4,5,6-tetrakisphosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,3,4,6-tetrakisphosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,3,4,6-tetrakisphosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol tetrakisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol tetrakisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol phosphate kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol phosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol trisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol trisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cyclin-dependent protein kinase activating kinase holoenzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cyclin-dependent protein kinase activating kinase holoenzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

p130Cas-ER-alpha-cSrc-kinase- PI3-kinase p85-subunit complex Gene Set

From CORUM Protein Complexes

proteins in the p130Cas-ER-alpha-cSrc-kinase- PI3-kinase p85-subunit complex protein complex from the CORUM Protein Complexes dataset.

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the cyclin-dependent protein kinase activating kinase holoenzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

mitogen-activated protein kinase kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the mitogen-activated protein kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

polo kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the polo kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

jun kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the jun kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

map kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cyclin-dependent protein kinase activating kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cyclin-dependent protein kinase activating kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Polo kinase kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polo kinase kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

MAP kinase activated protein kinase, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the MAP kinase activated protein kinase, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylate kinase/UMP-CMP kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylate kinase/UMP-CMP kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

map-kinase-kinase-kinases Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term map-kinase-kinase-kinases in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

map-kinase-kinase-4 Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term map-kinase-kinase-4 in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

MAP kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the MAP kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

JUN kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the JUN kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

mitogen-activated protein kinase kinase binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the mitogen-activated protein kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

cyclin-dependent protein kinase activating kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the cyclin-dependent protein kinase activating kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

phosphatidylinositol 3-kinase/protein kinase B signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the phosphatidylinositol 3-kinase/protein kinase B signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

MAP kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the MAP kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

JUN kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the JUN kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

mitogen-activated protein kinase kinase binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the mitogen-activated protein kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

cyclin-dependent protein kinase activating kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the cyclin-dependent protein kinase activating kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

cyclin-dependent protein kinase activating kinase regulator activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the cyclin-dependent protein kinase activating kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

MITOGEN-ACTIVATED PROTEIN KINASE KINASE INHIBITOR Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the MITOGEN-ACTIVATED PROTEIN KINASE KINASE INHIBITOR drug from theDGIdb Drug Targets 2026 dataset.

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene Set

From Biocarta Pathways

proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset.

regulation of eif-4e and p70s6 kinase Gene Set

From Biocarta Pathways

proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset.

human cytomegalovirus and map kinase pathways Gene Set

From Biocarta Pathways

proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset.

erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene Set

From Biocarta Pathways

proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aurora kinase A and ninein interacting protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aurora kinase A and ninein interacting protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Janus kinase and microtubule-interacting protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Janus kinase and microtubule-interacting protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

Nuclear Events (kinase and transcription factor activation) Gene Set

From Reactome Pathways 2014

proteins participating in the Nuclear Events (kinase and transcription factor activation) pathway from the Reactome Pathways dataset.

Nuclear Events (kinase and transcription factor activation) Gene Set

From Reactome Pathways 2024

proteins participating in the Nuclear Events (kinase and transcription factor activation) pathway from the Reactome Pathways 2024 dataset.

Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants pathway from the Reactome Pathways 2024 dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Anaphase-promoting and cell cycle kinase complexes Gene Set

From CM4AI U2OS Cell Map Protein Localization Assemblies

proteins comprising Anaphase-promoting and cell cycle kinase complexes assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.

1L-6-hydroxymethyl-chiro-inositol 2(R)-2-O-methyl-3-O-octadecylcarbonate Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 1L-6-hydroxymethyl-chiro-inositol 2(R)-2-O-methyl-3-O-octadecylcarbonate from the curated CTD Gene-Chemical Interactions dataset.

Inositol Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Inositol from the curated CTD Gene-Chemical Interactions dataset.

Inositol Phosphates Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Inositol Phosphates from the curated CTD Gene-Chemical Interactions dataset.

1-((1-O-octadecyl-2-O-methylglycero)phospho)-3-deoxy-myo-inositol Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 1-((1-O-octadecyl-2-O-methylglycero)phospho)-3-deoxy-myo-inositol from the curated CTD Gene-Chemical Interactions dataset.

Inositol 1,4,5-Trisphosphate Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Inositol 1,4,5-Trisphosphate from the curated CTD Gene-Chemical Interactions dataset.

Inositol 1,3,4,5-Tetrakisphosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the Inositol 1,3,4,5-Tetrakisphosphate drug from the curated DrugBank Drug Targets dataset.

Myo-Inositol Gene Set

From DrugBank Drug Targets

interacting proteins for the Myo-Inositol drug from the curated DrugBank Drug Targets dataset.

D-Myo-Inositol-2,4,5-Trisphosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the D-Myo-Inositol-2,4,5-Trisphosphate drug from the curated DrugBank Drug Targets dataset.

L-Myo-Inositol-1-Phosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the L-Myo-Inositol-1-Phosphate drug from the curated DrugBank Drug Targets dataset.

L-Alpha-Glycerophospho-D-Myo-Inositol-4,5-Bis-Phosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the L-Alpha-Glycerophospho-D-Myo-Inositol-4,5-Bis-Phosphate drug from the curated DrugBank Drug Targets dataset.

D-Myo-Inositol-Hexasulphate Gene Set

From DrugBank Drug Targets

interacting proteins for the D-Myo-Inositol-Hexasulphate drug from the curated DrugBank Drug Targets dataset.

D-Myo-Inositol-1,4,5-Triphosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the D-Myo-Inositol-1,4,5-Triphosphate drug from the curated DrugBank Drug Targets dataset.

D-Myo-Inositol-1,4-Bisphosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the D-Myo-Inositol-1,4-Bisphosphate drug from the curated DrugBank Drug Targets dataset.

Inositol 1,3-Bisphosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the Inositol 1,3-Bisphosphate drug from the curated DrugBank Drug Targets dataset.

inositol Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term inositol in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

regulation of inositol-polyphosphate 5-phosphatase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of inositol-polyphosphate 5-phosphatase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol phosphate dephosphorylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol phosphate dephosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol phosphate catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol phosphate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol phosphorylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of inositol-polyphosphate 5-phosphatase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of inositol-polyphosphate 5-phosphatase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of inositol trisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of inositol trisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of inositol trisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of inositol trisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

myo-inositol transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the myo-inositol transport biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol lipid-mediated signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol lipid-mediated signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol phosphate-mediated signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol phosphate-mediated signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol trisphosphate metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol trisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol phosphate metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol phosphate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol trisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the inositol trisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol monophosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol monophosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol tetrakisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol tetrakisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol diphosphate tetrakisphosphate diphosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol diphosphate tetrakisphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol monophosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol monophosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,3,4-trisphosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,3,4-trisphosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cdp-diacylglycerol-inositol 3-phosphatidyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cdp-diacylglycerol-inositol 3-phosphatidyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-polyphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-polyphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol oxygenase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol oxygenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol 1,3,4,5 tetrakisphosphate binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol 1,3,4,5 tetrakisphosphate binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,4,5-trisphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,4,5-trisphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol trisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol trisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-3-phosphate synthase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-3-phosphate synthase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol monophosphate 4-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol monophosphate 4-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol 1,4,5 trisphosphate binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol 1,4,5 trisphosphate binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol bisdiphosphate tetrakisphosphate diphosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol bisdiphosphate tetrakisphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol monophosphate 3-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol monophosphate 3-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,4-bisphosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,4-bisphosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol phosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol phosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol bisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the inositol bisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

inositol 2 4 5-trisphosphate Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the inositol 2 4 5-trisphosphate ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

phosphatidyl (3 5) inositol biphosphate Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the phosphatidyl (3 5) inositol biphosphate ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Inositol 1,4,5-trisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Inositol 1,4,5-trisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

1D-Myo-inositol 3,4-bisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1D-Myo-inositol 3,4-bisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

6-(alpha-D-Glucosaminyl)-1D-myo-inositol Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 6-(alpha-D-Glucosaminyl)-1D-myo-inositol metabolite from the curated HMDB Metabolites of Enzymes dataset.

Inositol 1,3,4-trisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Inositol 1,3,4-trisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

1D-Myo-inositol 1,3-bisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1D-Myo-inositol 1,3-bisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

Mannosyl-inositol-phosphorylceramide Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Mannosyl-inositol-phosphorylceramide metabolite from the curated HMDB Metabolites of Enzymes dataset.

1D-Myo-inositol 1,4-bisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1D-Myo-inositol 1,4-bisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

1D-Myo-inositol 1,4,5,6-tetrakisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1D-Myo-inositol 1,4,5,6-tetrakisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

Inositol-P-ceramide Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Inositol-P-ceramide metabolite from the curated HMDB Metabolites of Enzymes dataset.

1-Phosphatidyl-1D-myo-inositol 3-phosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1-Phosphatidyl-1D-myo-inositol 3-phosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

D-Myo-inositol 3,4,5,6-tetrakisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the D-Myo-inositol 3,4,5,6-tetrakisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

Inositol cyclic phosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Inositol cyclic phosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

1-(sn-Glycero-3-phospho)-1D-myo-inositol Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1-(sn-Glycero-3-phospho)-1D-myo-inositol metabolite from the curated HMDB Metabolites of Enzymes dataset.

Inositol phosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Inositol phosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

Inositol 1,3,4,5-tetraphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Inositol 1,3,4,5-tetraphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

1D-Myo-inositol 1,3,4,6-tetrakisphosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1D-Myo-inositol 1,3,4,6-tetrakisphosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

1D-myo-Inositol 3-phosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1D-myo-Inositol 3-phosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

Myo-inositol 1-phosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Myo-inositol 1-phosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

1-Phosphatidyl-D-myo-inositol Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 1-Phosphatidyl-D-myo-inositol metabolite from the curated HMDB Metabolites of Enzymes dataset.

D-Myo-inositol 4-phosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the D-Myo-inositol 4-phosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

6-(N-Acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 6-(N-Acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol metabolite from the curated HMDB Metabolites of Enzymes dataset.

superpathway of inositol phosphate compounds Gene Set

From HumanCyc Pathways

proteins participating in the superpathway of inositol phosphate compounds pathway from the HumanCyc Pathways dataset.

D-myo-inositol-5-phosphate metabolism Gene Set

From HumanCyc Pathways

proteins participating in the D-myo-inositol-5-phosphate metabolism pathway from the HumanCyc Pathways dataset.

D-myo-inositol (1,3,4)-trisphosphate biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the D-myo-inositol (1,3,4)-trisphosphate biosynthesis pathway from the HumanCyc Pathways dataset.

D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis pathway from the HumanCyc Pathways dataset.

D-myo-inositol (1,4,5)-trisphosphate biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the D-myo-inositol (1,4,5)-trisphosphate biosynthesis pathway from the HumanCyc Pathways dataset.

D-myo-inositol (1,4,5)-trisphosphate degradation Gene Set

From HumanCyc Pathways

proteins participating in the D-myo-inositol (1,4,5)-trisphosphate degradation pathway from the HumanCyc Pathways dataset.

myo-inositol de novo biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the myo-inositol de novo biosynthesis pathway from the HumanCyc Pathways dataset.

inositol pyrophosphates biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the inositol pyrophosphates biosynthesis pathway from the HumanCyc Pathways dataset.

D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis pathway from the HumanCyc Pathways dataset.

superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism Gene Set

From HumanCyc Pathways

proteins participating in the superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism pathway from the HumanCyc Pathways dataset.

Myo-inositol-1-phosphate synthase, GAPDH-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myo-inositol-1-phosphate synthase, GAPDH-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol polyphosphate-related phosphatase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol polyphosphate-related phosphatase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol 1,4,5-trisphosphate-binding protein receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol 1,4,5-trisphosphate-binding protein receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol 1,4,5-trisphosphate receptor-interacting protein family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol 1,4,5-trisphosphate receptor-interacting protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol monophosphatase, Lithium-sensitive Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol monophosphatase, Lithium-sensitive protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol monophosphatase, metal-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol monophosphatase, metal-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol oxygenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol oxygenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol phosphatase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol phosphatase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GPI inositol-deacylase PGAP1-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GPI inositol-deacylase PGAP1-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol monophosphatase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol monophosphatase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol monophosphatase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol monophosphatase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol 1,4,5-trisphosphate/ryanodine receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol 1,4,5-trisphosphate/ryanodine receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sugar/inositol transporter Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sugar/inositol transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myo-inositol-1-phosphate synthase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myo-inositol-1-phosphate synthase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inositol 1,4,5-trisphosphate receptor-interacting protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inositol 1,4,5-trisphosphate receptor-interacting protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CDP-diacylglycerol-inositol 3-phosphatidyltransferase, eukaryote Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CDP-diacylglycerol-inositol 3-phosphatidyltransferase, eukaryote protein domain from the InterPro Predicted Protein Domain Annotations dataset.

inositol metabolism Gene Set

From KEGG Pathways

proteins participating in the inositol metabolism pathway from the KEGG Pathways dataset.

inositol phosphate metabolism Gene Set

From KEGG Pathways

proteins participating in the inositol phosphate metabolism pathway from the KEGG Pathways dataset.

Inositol transporters Gene Set

From Reactome Pathways 2014

proteins participating in the Inositol transporters pathway from the Reactome Pathways dataset.

Inositol phosphate metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Inositol phosphate metabolism pathway from the Reactome Pathways dataset.

inositol phosphate metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol phosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol phosphate-mediated signaling Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol phosphate-mediated signaling biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of inositol-polyphosphate 5-phosphatase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of inositol-polyphosphate 5-phosphatase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

myo-inositol transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the myo-inositol transport biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of inositol trisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of inositol trisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol trisphosphate metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol trisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity biological process from the curated GO Biological Process Annotations 2023 dataset.

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

myo-inositol import across plasma membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the myo-inositol import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of inositol trisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of inositol trisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol lipid-mediated signaling Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol lipid-mediated signaling biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol phosphate catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the inositol phosphate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of inositol-polyphosphate 5-phosphatase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of inositol-polyphosphate 5-phosphatase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity biological process from the curated GO Biological Process Annotations 2023 dataset.

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

inositol monophosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol monophosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,3,4-trisphosphate 4-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,3,4-trisphosphate 4-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-3,4-bisphosphate 4-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-3,4-bisphosphate 4-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,4,5-trisphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,4,5-trisphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol 1,3,4,5 tetrakisphosphate binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol 1,3,4,5 tetrakisphosphate binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol diphosphate tetrakisphosphate diphosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol diphosphate tetrakisphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

myo-inositol:sodium symporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the myo-inositol:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol monophosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol monophosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol 1,4,5 trisphosphate binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol 1,4,5 trisphosphate binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,4-bisphosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,4-bisphosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,3,4-trisphosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,3,4-trisphosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

myo-inositol transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the myo-inositol transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol phosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol phosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-polyphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-polyphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

myo-inositol:proton symporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the myo-inositol:proton symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol bisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol bisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol trisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol trisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol-3-phosphate synthase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol-3-phosphate synthase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol oxygenase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol oxygenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

inositol tetrakisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the inositol tetrakisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

Myo-inositol Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for Myo-inositol metabolite from the MW Gene Metabolite Associations dataset.

alpha-D-Galactosyl-(1->3)-1D-myo-inositol Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for alpha-D-Galactosyl-(1->3)-1D-myo-inositol metabolite from the MW Gene Metabolite Associations dataset.

Inositol 3-phosphate Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for Inositol 3-phosphate metabolite from the MW Gene Metabolite Associations dataset.

1D-myo-Inositol 1,3,4,5-tetrakisphosphate Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 1D-myo-Inositol 1,3,4,5-tetrakisphosphate metabolite from the MW Gene Metabolite Associations dataset.

D-myo-Inositol 3,4,5,6-tetrakisphosphate Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for D-myo-Inositol 3,4,5,6-tetrakisphosphate metabolite from the MW Gene Metabolite Associations dataset.

1-Phosphatidyl-D-myo-inositol Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 1-Phosphatidyl-D-myo-inositol metabolite from the MW Gene Metabolite Associations dataset.

inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels Gene Set

From SynGO Synaptic Gene Annotations

genes associated with the synaptic term inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels from the SynGO Synaptic Gene Annotations dataset.

Phosphatidyl inositol phosphate pathway Gene Set

From WikiPathways Pathways 2024

proteins participating in the Phosphatidyl inositol phosphate pathway pathway from the WikiPathways Pathways 2024 dataset.

Inositol phosphate metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Inositol phosphate metabolism pathway from the Reactome Pathways 2024 dataset.

Inositol transporters Gene Set

From Reactome Pathways 2024

proteins participating in the Inositol transporters pathway from the Reactome Pathways 2024 dataset.

inositol phosphate metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the inositol phosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

inositol metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the inositol metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of inositol-polyphosphate 5-phosphatase activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of inositol-polyphosphate 5-phosphatase activity biological process from the curated GO Biological Process Annotations 2025 dataset.

myo-inositol transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the myo-inositol transport biological process from the curated GO Biological Process Annotations 2025 dataset.

inositol trisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the inositol trisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of inositol trisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of inositol trisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

inositol trisphosphate metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the inositol trisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity biological process from the curated GO Biological Process Annotations 2025 dataset.

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

myo-inositol import across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the myo-inositol import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity biological process from the curated GO Biological Process Annotations 2025 dataset.

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

inositol biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the inositol biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

inositol catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the inositol catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

inositol phosphate catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the inositol phosphate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of inositol phosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of inositol phosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of inositol trisphosphate biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of inositol trisphosphate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

inositol monophosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol monophosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,3,4-trisphosphate 4-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,3,4-trisphosphate 4-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-3,4-bisphosphate 4-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-3,4-bisphosphate 4-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,4,5-trisphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,4,5-trisphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol 1,3,4,5 tetrakisphosphate binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol 1,3,4,5 tetrakisphosphate binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol diphosphate tetrakisphosphate diphosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol diphosphate tetrakisphosphate diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

myo-inositol:sodium symporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the myo-inositol:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol monophosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol monophosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol 1,4,5 trisphosphate binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol 1,4,5 trisphosphate binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,4-bisphosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,4-bisphosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,3,4-trisphosphate 1-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,3,4-trisphosphate 1-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

myo-inositol transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the myo-inositol transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol phosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol phosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol 1,4,5-trisphosphate-gated calcium channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol 1,4,5-trisphosphate-gated calcium channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-polyphosphate 5-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-polyphosphate 5-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

myo-inositol:proton symporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the myo-inositol:proton symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol bisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol bisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol trisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol trisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-3-phosphate synthase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-3-phosphate synthase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol oxygenase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol oxygenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol-1,4,5,6-tetrakisphosphate 6-phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol-1,4,5,6-tetrakisphosphate 6-phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

inositol tetrakisphosphate phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the inositol tetrakisphosphate phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Inositol phosphoceramide synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Inositol phosphoceramide synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Inositol phosphate metabolism Gene Set

From KEGG Pathways 2026

proteins participating in the Inositol phosphate metabolism pathway from the KEGG Pathways 2026 dataset.

INOSITOL Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the INOSITOL drug from theDGIdb Drug Targets 2026 dataset.

INOSITOL 2,4,5-TRISPHOSPHATE Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the INOSITOL 2,4,5-TRISPHOSPHATE drug from theDGIdb Drug Targets 2026 dataset.

PHOSPHATIDYL (3,5) INOSITOL BISPHOSPHATE Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the PHOSPHATIDYL (3,5) INOSITOL BISPHOSPHATE drug from theDGIdb Drug Targets 2026 dataset.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2014

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2014

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2014

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2014

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2014

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2023

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset.

SRF and miRs in smooth muscle differentiation and proliferation Gene Set

From WikiPathways Pathways 2024

proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset.

RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene Set

From WikiPathways Pathways 2024

proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset.

ApoE and miR 146 in inflammation and atherosclerosis Gene Set

From WikiPathways Pathways 2024

proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset.

Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene Set

From WikiPathways Pathways 2024

proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset.

Somatroph axis GH and its relationship to dietary restriction and aging Gene Set

From WikiPathways Pathways 2024

proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset.

Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene Set

From WikiPathways Pathways 2024

proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset.

GLP 1 from intestine and pancreas and role in glucose homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2024

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset.

Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Set

From Reactome Pathways 2024

proteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2024

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2024

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset.

MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Set

From Reactome Pathways 2024

proteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2024

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2024

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset.

PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Set

From Reactome Pathways 2024

proteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset.

Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Set

From Reactome Pathways 2024

proteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset.

Transcriptional and post-translational regulation of MITF-M expression and activity Gene Set

From Reactome Pathways 2024

proteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset.

Transport of bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2025

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Regulation of gene expression and signal transduction in immune and stress responses Gene Set

From CM4AI U2OS Cell Map Protein Localization Assemblies

proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.

Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

protein kinase a at the centrosome Gene Set

From Biocarta Pathways

proteins participating in the protein kinase a at the centrosome pathway from the Biocarta Pathways dataset.

ca-calmodulin-dependent protein kinase activation Gene Set

From Biocarta Pathways

proteins participating in the ca-calmodulin-dependent protein kinase activation pathway from the Biocarta Pathways dataset.

activation of camp-dependent protein kinase pka Gene Set

From Biocarta Pathways

proteins participating in the activation of camp-dependent protein kinase pka pathway from the Biocarta Pathways dataset.

map kinase inactivation of smrt corepressor Gene Set

From Biocarta Pathways

proteins participating in the map kinase inactivation of smrt corepressor pathway from the Biocarta Pathways dataset.

regulation of map kinase pathways through dual specificity phosphatases Gene Set

From Biocarta Pathways

proteins participating in the regulation of map kinase pathways through dual specificity phosphatases pathway from the Biocarta Pathways dataset.

sprouty regulation of tyrosine kinase signals Gene Set

From Biocarta Pathways

proteins participating in the sprouty regulation of tyrosine kinase signals pathway from the Biocarta Pathways dataset.

activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor Gene Set

From Biocarta Pathways

proteins participating in the activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor pathway from the Biocarta Pathways dataset.

phosphorylation of mek1 by cdk5/p35 down regulates the map kinase pathway Gene Set

From Biocarta Pathways

proteins participating in the phosphorylation of mek1 by cdk5/p35 down regulates the map kinase pathway pathway from the Biocarta Pathways dataset.

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

cyclin-dependent protein kinase holoenzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cyclin-dependent protein kinase holoenzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nuclear cyclin-dependent protein kinase holoenzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nuclear cyclin-dependent protein kinase holoenzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic cyclin-dependent protein kinase holoenzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic cyclin-dependent protein kinase holoenzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class iii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphatidylinositol 3-kinase complex, class iii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphatidylinositol 3-kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

serine/threonine protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the serine/threonine protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

camp-dependent protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the camp-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dna-dependent protein kinase-dna ligase 4 complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dna-dependent protein kinase-dna ligase 4 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

protein kinase ck2 complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the protein kinase ck2 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

carboxy-terminal domain protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the carboxy-terminal domain protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class i Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphatidylinositol 3-kinase complex, class i cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cyclin-dependent protein kinase 5 holoenzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cyclin-dependent protein kinase 5 holoenzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

ikappab kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the ikappab kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

phosphorylase kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphorylase kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class ib Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphatidylinositol 3-kinase complex, class ib cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class ia Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphatidylinositol 3-kinase complex, class ia cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

amp-activated protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the amp-activated protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cyclin-dependent protein kinase holoenzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cyclin-dependent protein kinase holoenzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nuclear cyclin-dependent protein kinase holoenzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nuclear cyclin-dependent protein kinase holoenzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class iii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class iii cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

serine/threonine protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the serine/threonine protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

dna-dependent protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dna-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class i Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class i cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

protein kinase ck2 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the protein kinase ck2 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

carboxy-terminal domain protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the carboxy-terminal domain protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

ikappab kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the ikappab kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

transforming growth factor beta activated kinase 1 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the transforming growth factor beta activated kinase 1 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphorylase kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphorylase kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

creatine kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the creatine kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class iii, type ii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class iii, type ii cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class ib Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class ib cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class ia Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class ia cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial creatine kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial creatine kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytosolic creatine kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytosolic creatine kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphatidylinositol 3-kinase complex, class iii, type i Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class iii, type i cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

dbf4-dependent protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dbf4-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

amp-activated protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the amp-activated protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Casein kinase II complex Gene Set

From CORUM Protein Complexes

proteins in the Casein kinase II complex protein complex from the CORUM Protein Complexes dataset.

Casein kinase II (beta-dimer, alpha, alpha') Gene Set

From CORUM Protein Complexes

proteins in the Casein kinase II (beta-dimer, alpha, alpha') protein complex from the CORUM Protein Complexes dataset.

I-kappa-B kinase (IKK) complex Gene Set

From CORUM Protein Complexes

proteins in the I-kappa-B kinase (IKK) complex protein complex from the CORUM Protein Complexes dataset.

IkappaB kinase complex (IKBKB, CHUK, IKBKAP, NFKBIA, RELA, MAP3K14) Gene Set

From CORUM Protein Complexes

proteins in the IkappaB kinase complex (IKBKB, CHUK, IKBKAP, NFKBIA, RELA, MAP3K14) protein complex from the CORUM Protein Complexes dataset.

CD19-Vav-PI 3-kinase (p85 subunit) complex Gene Set

From CORUM Protein Complexes

proteins in the CD19-Vav-PI 3-kinase (p85 subunit) complex protein complex from the CORUM Protein Complexes dataset.

DNA ligase IV-Xrcc4-DNA-protein kinase complex Gene Set

From CORUM Protein Complexes

proteins in the DNA ligase IV-Xrcc4-DNA-protein kinase complex protein complex from the CORUM Protein Complexes dataset.

Cell cycle kinase complex CDC2 Gene Set

From CORUM Protein Complexes

proteins in the Cell cycle kinase complex CDC2 protein complex from the CORUM Protein Complexes dataset.

Kinase-scaffold-phosphatase complex, PKA-AKAP79-CaN Gene Set

From CORUM Protein Complexes

proteins in the Kinase-scaffold-phosphatase complex, PKA-AKAP79-CaN protein complex from the CORUM Protein Complexes dataset.

Phosphatidylinositol 3-kinase (PIK3CA, PIK3R1) Gene Set

From CORUM Protein Complexes

proteins in the Phosphatidylinositol 3-kinase (PIK3CA, PIK3R1) protein complex from the CORUM Protein Complexes dataset.

Kinase maturation complex 1 Gene Set

From CORUM Protein Complexes

proteins in the Kinase maturation complex 1 protein complex from the CORUM Protein Complexes dataset.

Kinase maturation complex 2 Gene Set

From CORUM Protein Complexes

proteins in the Kinase maturation complex 2 protein complex from the CORUM Protein Complexes dataset.

Casein kinase II-HMG1 complex Gene Set

From CORUM Protein Complexes

proteins in the Casein kinase II-HMG1 complex protein complex from the CORUM Protein Complexes dataset.

Casein kinase II (beta-dimer, alpha-dimer) Gene Set

From CORUM Protein Complexes

proteins in the Casein kinase II (beta-dimer, alpha-dimer) protein complex from the CORUM Protein Complexes dataset.

TRIKA2 protein kinase complex (TAK1, TAB1, TAB2) Gene Set

From CORUM Protein Complexes

proteins in the TRIKA2 protein kinase complex (TAK1, TAB1, TAB2) protein complex from the CORUM Protein Complexes dataset.

LAT-GRB2 complex, Fyn-mLck(KA) or Syk kinase activated Gene Set

From CORUM Protein Complexes

proteins in the LAT-GRB2 complex, Fyn-mLck(KA) or Syk kinase activated protein complex from the CORUM Protein Complexes dataset.

Cell cycle kinase complex CDK2 Gene Set

From CORUM Protein Complexes

proteins in the Cell cycle kinase complex CDK2 protein complex from the CORUM Protein Complexes dataset.

Cell cycle kinase complex CDK5 Gene Set

From CORUM Protein Complexes

proteins in the Cell cycle kinase complex CDK5 protein complex from the CORUM Protein Complexes dataset.

Cell cycle kinase complex CDK4 Gene Set

From CORUM Protein Complexes

proteins in the Cell cycle kinase complex CDK4 protein complex from the CORUM Protein Complexes dataset.

Phosphatidylinositol 3-kinase complex (PIK3C3, PIK3R4) Gene Set

From CORUM Protein Complexes

proteins in the Phosphatidylinositol 3-kinase complex (PIK3C3, PIK3R4) protein complex from the CORUM Protein Complexes dataset.

Casein kinase II (beta-dimer, alpha'-dimer) Gene Set

From CORUM Protein Complexes

proteins in the Casein kinase II (beta-dimer, alpha'-dimer) protein complex from the CORUM Protein Complexes dataset.

CAK complex (Cdk-activating kinase complex) Gene Set

From CORUM Protein Complexes

proteins in the CAK complex (Cdk-activating kinase complex) protein complex from the CORUM Protein Complexes dataset.

CAK core complex (Cdk-activating kinase core complex) Gene Set

From CORUM Protein Complexes

proteins in the CAK core complex (Cdk-activating kinase core complex) protein complex from the CORUM Protein Complexes dataset.

Protein kinase A II alpha homodimer complex Gene Set

From CORUM Protein Complexes

proteins in the Protein kinase A II alpha homodimer complex protein complex from the CORUM Protein Complexes dataset.

EGFR tyrosine kinase inhibitor 324674 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical EGFR tyrosine kinase inhibitor 324674 from the curated CTD Gene-Chemical Interactions dataset.

Protein Kinase Inhibitors Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Protein Kinase Inhibitors from the curated CTD Gene-Chemical Interactions dataset.

protein kinase inhibitor peptide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical protein kinase inhibitor peptide from the curated CTD Gene-Chemical Interactions dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pantothenate Kinase-Associated Neurodegeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pantothenate Kinase-Associated Neurodegeneration from the curated CTD Gene-Disease Associations dataset.

NEVER IN MITOSIS GENE A-RELATED KINASE 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEVER IN MITOSIS GENE A-RELATED KINASE 1 from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mevalonate Kinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Kinase Deficiency of Red Cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset.

pantothenate kinase-associated neurodegeneration Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease pantothenate kinase-associated neurodegeneration from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

pantothenate kinase-associated neurodegeneration Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pantothenate kinase-associated neurodegeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Inhibitor of P38 Kinase Gene Set

From DrugBank Drug Targets

interacting proteins for the Inhibitor of P38 Kinase drug from the curated DrugBank Drug Targets dataset.

mevalonate kinase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mevalonate kinase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kinase Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term kinase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

collagen-activated tyrosine kinase receptor signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the collagen-activated tyrosine kinase receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of map kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of map kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of 1-phosphatidylinositol 4-kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of 1-phosphatidylinositol 4-kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

activation of protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the activation of protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of 1-phosphatidylinositol 4-kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of 1-phosphatidylinositol 4-kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

protein kinase d signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the protein kinase d signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of protein kinase d signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein kinase d signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of cyclin-dependent protein serine/threonine kinase by cyclin degradation Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of cyclin-dependent protein serine/threonine kinase by cyclin degradation biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in g1/s transition of mitotic cell cycle Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in g1/s transition of mitotic cell cycle biological process from the curated GO Biological Process Annotations 2015 dataset.

i-kappab kinase/nf-kappab signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the i-kappab kinase/nf-kappab signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of phosphatidylinositol 3-kinase signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of phosphatidylinositol 3-kinase signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

phosphatidylinositol 3-kinase signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the phosphatidylinositol 3-kinase signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of activation of jak2 kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of activation of jak2 kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of rho-dependent protein serine/threonine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of rho-dependent protein serine/threonine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of camp-dependent protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of camp-dependent protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of tau-protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of tau-protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of lipid kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of lipid kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

protein kinase c signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the protein kinase c signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of activation of jak2 kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of activation of jak2 kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

protein kinase a signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the protein kinase a signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of cyclin-dependent protein serine/threonine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of cyclin-dependent protein serine/threonine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of cyclin-dependent protein serine/threonine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of cyclin-dependent protein serine/threonine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

activation of protein kinase b activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the activation of protein kinase b activity biological process from the curated GO Biological Process Annotations 2015 dataset.

activation of jun kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the activation of jun kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of myosin light chain kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of myosin light chain kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of camp-dependent protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of camp-dependent protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

guanylate kinase-associated protein clustering Gene Set

From GO Biological Process Annotations 2015

genes participating in the guanylate kinase-associated protein clustering biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of activation of janus kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of activation of janus kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of protein kinase c activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of protein kinase c activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of phosphatidylinositol 3-kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of phosphatidylinositol 3-kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of phosphatidylinositol 3-kinase signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of phosphatidylinositol 3-kinase signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

insulin receptor signaling pathway via phosphatidylinositol 3-kinase Gene Set

From GO Biological Process Annotations 2015

genes participating in the insulin receptor signaling pathway via phosphatidylinositol 3-kinase biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of jun kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of jun kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of protein kinase b signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of protein kinase b signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of rho-dependent protein serine/threonine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of rho-dependent protein serine/threonine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

stress-activated protein kinase signaling cascade Gene Set

From GO Biological Process Annotations 2015

genes participating in the stress-activated protein kinase signaling cascade biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of protein kinase activity by regulation of protein phosphorylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein kinase activity by regulation of protein phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of jun kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of jun kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

activation of protein kinase a activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the activation of protein kinase a activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of i-kappab kinase/nf-kappab signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of i-kappab kinase/nf-kappab signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of phosphatidylinositol 3-kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of phosphatidylinositol 3-kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

epidermal growth factor receptor signaling pathway via i-kappab kinase/nf-kappab cascade Gene Set

From GO Biological Process Annotations 2015

genes participating in the epidermal growth factor receptor signaling pathway via i-kappab kinase/nf-kappab cascade biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of protein kinase c signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein kinase c signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

activation of transmembrane receptor protein tyrosine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the activation of transmembrane receptor protein tyrosine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of camp-dependent protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of camp-dependent protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of transmembrane receptor protein serine/threonine kinase signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of stress-activated protein kinase signaling cascade Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of stress-activated protein kinase signaling cascade biological process from the curated GO Biological Process Annotations 2015 dataset.

transmembrane receptor protein tyrosine kinase signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the transmembrane receptor protein tyrosine kinase signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

modulation by symbiont of host i-kappab kinase/nf-kappab cascade Gene Set

From GO Biological Process Annotations 2015

genes participating in the modulation by symbiont of host i-kappab kinase/nf-kappab cascade biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of protein kinase a signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein kinase a signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of activation of janus kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of activation of janus kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

transmembrane receptor protein serine/threonine kinase signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the transmembrane receptor protein serine/threonine kinase signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of protein kinase b signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein kinase b signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of map kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of map kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of phosphatidylinositol 3-kinase signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of phosphatidylinositol 3-kinase signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of protein kinase c signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein kinase c signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of protein kinase d signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of protein kinase d signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

protein kinase c deactivation Gene Set

From GO Biological Process Annotations 2015

genes participating in the protein kinase c deactivation biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of phosphatidylinositol 3-kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of phosphatidylinositol 3-kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of cyclin-dependent protein serine/threonine kinase activity involved in g2/m transition of mitotic cell cycle Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of cyclin-dependent protein serine/threonine kinase activity involved in g2/m transition of mitotic cell cycle biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of protein kinase a signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of protein kinase a signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of lipid kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of lipid kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of jun kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of jun kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of i-kappab kinase/nf-kappab signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of i-kappab kinase/nf-kappab signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of protein serine/threonine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein serine/threonine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in g2/m transition of mitotic cell cycle Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in g2/m transition of mitotic cell cycle biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of map kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of map kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of protein kinase c activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein kinase c activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of protein kinase c signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of protein kinase c signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of protein kinase b signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein kinase b signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of cyclin-dependent protein serine/threonine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of cyclin-dependent protein serine/threonine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of i-kappab kinase/nf-kappab signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of i-kappab kinase/nf-kappab signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

protein kinase c-activating g-protein coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the protein kinase c-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

activation of janus kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the activation of janus kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

activation of nf-kappab-inducing kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the activation of nf-kappab-inducing kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

protein kinase b signaling Gene Set

From GO Biological Process Annotations 2015

genes participating in the protein kinase b signaling biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of activation of jak2 kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of activation of jak2 kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

activation of jak2 kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the activation of jak2 kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of protein serine/threonine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein serine/threonine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of lipid kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of lipid kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of stress-activated protein kinase signaling cascade Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of stress-activated protein kinase signaling cascade biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of protein tyrosine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein tyrosine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of tau-protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of tau-protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of stress-activated protein kinase signaling cascade Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of stress-activated protein kinase signaling cascade biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of myosin light chain kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of myosin light chain kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of protein serine/threonine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of protein serine/threonine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in g1/s transition of mitotic cell cycle Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in g1/s transition of mitotic cell cycle biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of cyclin-dependent protein serine/threonine kinase activity involved in g1/s transition of mitotic cell cycle Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of cyclin-dependent protein serine/threonine kinase activity involved in g1/s transition of mitotic cell cycle biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of protein tyrosine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of protein tyrosine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of tau-protein kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of tau-protein kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of protein tyrosine kinase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein tyrosine kinase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

cyclin-dependent protein kinase holoenzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the cyclin-dependent protein kinase holoenzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

nuclear cyclin-dependent protein kinase holoenzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the nuclear cyclin-dependent protein kinase holoenzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

cytoplasmic cyclin-dependent protein kinase holoenzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the cytoplasmic cyclin-dependent protein kinase holoenzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphatidylinositol 3-kinase complex, class iii Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphatidylinositol 3-kinase complex, class iii cellular component from the curated GO Cellular Component Annotations 2015 dataset.

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphatidylinositol 3-kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphatidylinositol 3-kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

serine/threonine protein kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the serine/threonine protein kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

dna-dependent protein kinase-dna ligase 4 complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the dna-dependent protein kinase-dna ligase 4 complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

camp-dependent protein kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the camp-dependent protein kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

protein kinase ck2 complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the protein kinase ck2 complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

carboxy-terminal domain protein kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the carboxy-terminal domain protein kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphatidylinositol 3-kinase complex, class i Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphatidylinositol 3-kinase complex, class i cellular component from the curated GO Cellular Component Annotations 2015 dataset.

ikappab kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the ikappab kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

cyclin-dependent protein kinase 5 holoenzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the cyclin-dependent protein kinase 5 holoenzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphatidylinositol 3-kinase complex, class iii, type i Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphatidylinositol 3-kinase complex, class iii, type i cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphorylase kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphorylase kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphatidylinositol 3-kinase complex, class iii, type ii Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphatidylinositol 3-kinase complex, class iii, type ii cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphatidylinositol 3-kinase complex, class ib Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphatidylinositol 3-kinase complex, class ib cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphatidylinositol 3-kinase complex, class ia Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphatidylinositol 3-kinase complex, class ia cellular component from the curated GO Cellular Component Annotations 2015 dataset.

protein kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the protein kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

amp-activated protein kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the amp-activated protein kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

guanylate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the guanylate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

diacylglycerol kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the diacylglycerol kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

atp-dependent polynucleotide kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the atp-dependent polynucleotide kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

thymidine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the thymidine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

jun kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the jun kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone serine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone serine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

dolichol kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the dolichol kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

amino acid kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the amino acid kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cyclin-dependent protein serine/threonine kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cyclin-dependent protein serine/threonine kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein histidine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein histidine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nucleoside phosphate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nucleoside phosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

camp-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the camp-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

pantothenate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the pantothenate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone kinase activity (h3-s10 specific) Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone kinase activity (h3-s10 specific) molecular function from the curated GO Molecular Function Annotations 2015 dataset.

acylglycerol kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the acylglycerol kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cyclin-dependent protein kinase 5 activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cyclin-dependent protein kinase 5 activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ethanolamine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ethanolamine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

n-acylmannosamine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the n-acylmannosamine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1-phosphatidylinositol-3-phosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1-phosphatidylinositol-3-phosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

[acetyl-coa carboxylase] kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the [acetyl-coa carboxylase] kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ceramide kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ceramide kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cgmp-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cgmp-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

deoxycytidine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the deoxycytidine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone kinase activity (h3-y41 specific) Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone kinase activity (h3-y41 specific) molecular function from the curated GO Molecular Function Annotations 2015 dataset.

mitogen-activated protein kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the mitogen-activated protein kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transmembrane receptor protein serine/threonine kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the transmembrane receptor protein serine/threonine kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

sphinganine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the sphinganine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

tau-protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the tau-protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rhodopsin kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the rhodopsin kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase c inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase c inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

creatine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the creatine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1-phosphatidylinositol-4-phosphate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1-phosphatidylinositol-4-phosphate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

pyruvate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the pyruvate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

receptor serine/threonine kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the receptor serine/threonine kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein serine/threonine kinase inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein serine/threonine kinase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

map kinase phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

fructosamine-3-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the fructosamine-3-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein serine/threonine/tyrosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein serine/threonine/tyrosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

mitogen-activated protein kinase p38 binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the mitogen-activated protein kinase p38 binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

pyridoxal kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the pyridoxal kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein serine/threonine kinase activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein serine/threonine kinase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

beta-adrenergic receptor kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the beta-adrenergic receptor kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cyclin-dependent protein serine/threonine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cyclin-dependent protein serine/threonine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

uridine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the uridine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

jun kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the jun kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1-phosphatidylinositol-4-phosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1-phosphatidylinositol-4-phosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

calcium-dependent protein kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the calcium-dependent protein kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

fas-activated serine/threonine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the fas-activated serine/threonine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

calcium-dependent protein serine/threonine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the calcium-dependent protein serine/threonine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone kinase activity (h2a-t120 specific) Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone kinase activity (h2a-t120 specific) molecular function from the curated GO Molecular Function Annotations 2015 dataset.

camp-dependent protein kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the camp-dependent protein kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol 3-kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol 3-kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone kinase activity (h3-t3 specific) Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone kinase activity (h3-t3 specific) molecular function from the curated GO Molecular Function Annotations 2015 dataset.

calcium-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the calcium-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

g-protein coupled receptor kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the g-protein coupled receptor kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

riboflavin kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the riboflavin kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphorelay sensor kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphorelay sensor kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

deoxynucleoside kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the deoxynucleoside kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

map kinase tyrosine/serine/threonine phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase tyrosine/serine/threonine phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase a regulatory subunit binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase a regulatory subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nucleoside kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nucleoside kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

polyribonucleotide kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the polyribonucleotide kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cyclic nucleotide-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cyclic nucleotide-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

eukaryotic translation initiation factor 2alpha kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the eukaryotic translation initiation factor 2alpha kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

thymidylate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the thymidylate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone kinase activity (h3-t11 specific) Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone kinase activity (h3-t11 specific) molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein tyrosine kinase collagen receptor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein tyrosine kinase collagen receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

6-phosphofructo-2-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 6-phosphofructo-2-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycerol kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycerol kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol 3-kinase catalytic subunit binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol 3-kinase catalytic subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ribosylnicotinamide kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ribosylnicotinamide kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cyclin-dependent protein serine/threonine kinase inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cyclin-dependent protein serine/threonine kinase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ump kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ump kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase c binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase c binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphoglycerate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphoglycerate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nucleobase-containing compound kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nucleobase-containing compound kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

gtp-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the gtp-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

lipid kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the lipid kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

receptor tyrosine kinase-like orphan receptor binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the receptor tyrosine kinase-like orphan receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol 3-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

receptor signaling protein tyrosine kinase inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the receptor signaling protein tyrosine kinase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

carbohydrate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the carbohydrate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

choline kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the choline kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

[hydroxymethylglutaryl-coa reductase (nadph)] kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the [hydroxymethylglutaryl-coa reductase (nadph)] kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

dna-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the dna-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

jun kinase phosphatase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the jun kinase phosphatase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol-4,5-bisphosphate 3-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol-4,5-bisphosphate 3-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

adenosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the adenosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

calcium-dependent protein kinase inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the calcium-dependent protein kinase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

adenylylsulfate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the adenylylsulfate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

receptor signaling protein tyrosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the receptor signaling protein tyrosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase b binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase b binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycerate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycerate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

d-erythro-sphingosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the d-erythro-sphingosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

deoxyguanosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the deoxyguanosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

amp-activated protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the amp-activated protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

3-phosphoinositide-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 3-phosphoinositide-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cytidylate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cytidylate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

polydeoxyribonucleotide kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the polydeoxyribonucleotide kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

pyruvate dehydrogenase (acetyl-transferring) kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the pyruvate dehydrogenase (acetyl-transferring) kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase c activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase c activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nucleoside triphosphate adenylate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nucleoside triphosphate adenylate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nad+ kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nad+ kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

n-acetylglucosamine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the n-acetylglucosamine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

receptor tyrosine kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the receptor tyrosine kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

calcium-independent protein kinase c activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the calcium-independent protein kinase c activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

calcium-dependent protein kinase c activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the calcium-dependent protein kinase c activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ikappab kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ikappab kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

atp-dependent polyribonucleotide 5'-hydroxyl-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the atp-dependent polyribonucleotide 5'-hydroxyl-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

3-phosphoinositide-dependent protein kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the 3-phosphoinositide-dependent protein kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol 3-kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol 3-kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase a binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase a binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone kinase activity (h3-t6 specific) Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone kinase activity (h3-t6 specific) molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase ii carboxy-terminal domain kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii carboxy-terminal domain kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

receptor signaling protein tyrosine kinase activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the receptor signaling protein tyrosine kinase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

non-membrane spanning protein tyrosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the non-membrane spanning protein tyrosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glutamate 5-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glutamate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol phosphate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol phosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

camp-dependent protein kinase inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the camp-dependent protein kinase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

uridylate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the uridylate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

dephospho-coa kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the dephospho-coa kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

myosin light chain kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the myosin light chain kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

kinase inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the kinase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transmembrane receptor protein tyrosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the transmembrane receptor protein tyrosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

kinase activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the kinase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein tyrosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein tyrosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

adenylate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the adenylate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol 3-kinase regulatory subunit binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol 3-kinase regulatory subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein tyrosine kinase inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein tyrosine kinase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nucleotide kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nucleotide kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein kinase a catalytic subunit binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein kinase a catalytic subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nf-kappab-inducing kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nf-kappab-inducing kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphorylase kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

n-acetylgalactosamine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the n-acetylgalactosamine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

hydroxylysine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the hydroxylysine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1-phosphatidylinositol 4-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1-phosphatidylinositol 4-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone threonine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone threonine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

atp-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the atp-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

mevalonate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the mevalonate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphomevalonate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphomevalonate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

sap kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the sap kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

map kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein tyrosine kinase activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein tyrosine kinase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transmembrane receptor protein tyrosine kinase activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the transmembrane receptor protein tyrosine kinase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1-phosphatidylinositol-3-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1-phosphatidylinositol-3-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1-phosphatidylinositol-3-kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1-phosphatidylinositol-3-kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transmembrane receptor protein tyrosine kinase adaptor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the transmembrane receptor protein tyrosine kinase adaptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transmembrane receptor protein serine/threonine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the transmembrane receptor protein serine/threonine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1-phosphatidylinositol-5-phosphate 4-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1-phosphatidylinositol-5-phosphate 4-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphatidylinositol bisphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphatidylinositol bisphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transmembrane receptor protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the transmembrane receptor protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphorylase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ribosomal protein s6 kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ribosomal protein s6 kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein serine/threonine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein serine/threonine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nucleoside diphosphate kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nucleoside diphosphate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

calmodulin-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the calmodulin-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

polynucleotide 5'-hydroxyl-kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the polynucleotide 5'-hydroxyl-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cyclin-dependent protein kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cyclin-dependent protein kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycerone kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycerone kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

map-kinase scaffold activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map-kinase scaffold activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histone tyrosine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the histone tyrosine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

receptor signaling protein serine/threonine kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the receptor signaling protein serine/threonine kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

sphingosine kinase inhibitor Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the sphingosine kinase inhibitor ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

abnormal levels of creatine kinase in blood Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal levels of creatine kinase in blood phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Mevalonate Kinase Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Mevalonate Kinase Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

MAP kinase cascade Gene Set

From HumanCyc Pathways

proteins participating in the MAP kinase cascade pathway from the HumanCyc Pathways dataset.

Pyruvate kinase, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate kinase, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase, ERK1/2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase, ERK1/2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ALK tyrosine kinase receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ALK tyrosine kinase receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polynucleotide kinase 3 phosphatase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polynucleotide kinase 3 phosphatase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

AGC-kinase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the AGC-kinase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Leukocyte tyrosine kinase receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leukocyte tyrosine kinase receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Calcium/calmodulin-dependent/calcium-dependent protein kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Calcium/calmodulin-dependent/calcium-dependent protein kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenosine kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenosine kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase C, eta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase C, eta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polyribonucleotide 5-hydroxyl-kinase Clp1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polyribonucleotide 5-hydroxyl-kinase Clp1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Signal transduction histidine kinase, core Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Signal transduction histidine kinase, core protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycogen synthase kinase-3 binding protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycogen synthase kinase-3 binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polynucleotide kinase 3-phosphatase, metazoan Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polynucleotide kinase 3-phosphatase, metazoan protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, receptor class V, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, receptor class V, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-phase kinase-associated protein 1-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-phase kinase-associated protein 1-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

A-kinase anchor protein 2, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the A-kinase anchor protein 2, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphatidylinositol-4-phosphate 5-kinase, N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphatidylinositol-4-phosphate 5-kinase, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase PAK7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase PAK7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase C, theta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase C, theta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual specificity tyrosine-phosphorylation-regulated kinase 1A Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual specificity tyrosine-phosphorylation-regulated kinase 1A protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, receptor ROR Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, receptor ROR protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carbohydrate kinase, thermoresistant glucokinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carbohydrate kinase, thermoresistant glucokinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase C, epsilon Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase C, epsilon protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Interleukin-1 receptor-associated kinase 1-binding protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Interleukin-1 receptor-associated kinase 1-binding protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Thymidine kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thymidine kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAST kinase-like protein, subdomain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAST kinase-like protein, subdomain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase A anchor protein, RI-RII subunit-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase A anchor protein, RI-RII subunit-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, receptor class III, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, receptor class III, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Guanylate kinase/L-type calcium channel beta subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Guanylate kinase/L-type calcium channel beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAST kinase leucine-rich Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAST kinase leucine-rich protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase C, delta/epsilon/eta/theta types Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase C, delta/epsilon/eta/theta types protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aurora kinase B Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aurora kinase B protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Stress-activated map kinase interacting 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Stress-activated map kinase interacting 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lipopolysaccharide kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lipopolysaccharide kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase 40 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase 40 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myosin light chain kinase-related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myosin light chain kinase-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Microtubule-associated serine/threonine-protein kinase, pre-PK domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Microtubule-associated serine/threonine-protein kinase, pre-PK domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase phosphatase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase phosphatase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase MRCK alpha Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase MRCK alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Casein kinase II, regulatory subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Casein kinase II, regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Casein kinase 1 gamma C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Casein kinase 1 gamma C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Telokin/Myosin light chain kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Telokin/Myosin light chain kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoinositide 3-kinase, accessory (PIK) domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoinositide 3-kinase, accessory (PIK) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Deoxynucleoside kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Deoxynucleoside kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase pim-1/2/3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase pim-1/2/3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Thymidine kinase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thymidine kinase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, Ret receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, Ret receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cyclin-dependent kinase, regulatory subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cyclin-dependent kinase, regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

A-kinase anchor 110kDa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the A-kinase anchor 110kDa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Calcium/calmodulin-dependent protein kinase II, association-domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Calcium/calmodulin-dependent protein kinase II, association-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ATP-NAD kinase, PpnK-type, all-beta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ATP-NAD kinase, PpnK-type, all-beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Casein kinase substrate, phosphoprotein PP28 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Casein kinase substrate, phosphoprotein PP28 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cyclin-dependent kinase 5 activator Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cyclin-dependent kinase 5 activator protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphatidylinositol-4-phosphate 5-kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphatidylinositol-4-phosphate 5-kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, neurotrophic receptor, type 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, neurotrophic receptor, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, neurotrophic receptor, type 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, neurotrophic receptor, type 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, neurotrophic receptor, type 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, neurotrophic receptor, type 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase Fgr Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase Fgr protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, Fes/Fps type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, Fes/Fps type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ribosomal protein S6 kinase II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal protein S6 kinase II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

PIK-related kinase, FATC Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the PIK-related kinase, FATC protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rho-associated protein kinase 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rho-associated protein kinase 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rho-associated protein kinase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rho-associated protein kinase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Diacylglycerol kinase, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Diacylglycerol kinase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase OSR1/WNK, CCT domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase OSR1/WNK, CCT domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-phase kinase-associated protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-phase kinase-associated protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myristoylated alanine-rich C-kinase substrate MARCKS Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myristoylated alanine-rich C-kinase substrate MARCKS protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Eukaryotic elongation factor 2 kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Eukaryotic elongation factor 2 kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase Fer Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase Fer protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Fas activated serine/threonine kinase FAST Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fas activated serine/threonine kinase FAST protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, HGF/MSP receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, HGF/MSP receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Uridine-cytidine kinase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Uridine-cytidine kinase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Uridine-cytidine kinase 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Uridine-cytidine kinase 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase C, alpha/beta/gamma types Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase C, alpha/beta/gamma types protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Wee1-like protein kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Wee1-like protein kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, receptor class II, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, receptor class II, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytoplasmic tyrosine-protein kinase BMX Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytoplasmic tyrosine-protein kinase BMX protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Diacylglycerol kinase, accessory domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Diacylglycerol kinase, accessory domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase, ERK3/4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase, ERK3/4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual specificity testis-specific protein kinase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual specificity testis-specific protein kinase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase OSR1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase OSR1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mevalonate kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mevalonate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyruvate kinase, barrel Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate kinase, barrel protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphatidylinositol 3-kinase adaptor-binding (PI3K ABD) domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphatidylinositol 3-kinase adaptor-binding (PI3K ABD) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Casein Kinase 2 substrate Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Casein Kinase 2 substrate protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carbohydrate kinase PfkB Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carbohydrate kinase PfkB protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoinositide 3-kinase regulatory subunit 5/6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoinositide 3-kinase regulatory subunit 5/6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RIO kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RIO kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Higher eukaryotic phosphomevalonate kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Higher eukaryotic phosphomevalonate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

5'-AMP-activated protein kinase subunit beta-1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 5'-AMP-activated protein kinase subunit beta-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Interleukin-1 receptor-associated kinase 4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Interleukin-1 receptor-associated kinase 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Calcium/calmodulin-dependent protein kinase II inhibitor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Calcium/calmodulin-dependent protein kinase II inhibitor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

PIK-related kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the PIK-related kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cyclin-dependent kinase 2-interacting protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cyclin-dependent kinase 2-interacting protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Uridine kinase like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Uridine kinase like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphatidylinositol-4-phosphate 5-kinase, core Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphatidylinositol-4-phosphate 5-kinase, core protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoglycerate kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoglycerate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Inorganic polyphosphate/ATP-NAD kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inorganic polyphosphate/ATP-NAD kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase C, delta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase C, delta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Kinase phosphorylation domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Kinase phosphorylation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine-threonine/tyrosine-protein kinase catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine-threonine/tyrosine-protein kinase catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamate 5-kinase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamate 5-kinase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

5'-AMP-activated protein kinase catalytic subunit alpha-2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 5'-AMP-activated protein kinase catalytic subunit alpha-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

5'-AMP-activated protein kinase catalytic subunit alpha-1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 5'-AMP-activated protein kinase catalytic subunit alpha-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ser/Thr protein kinase, TGFB receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ser/Thr protein kinase, TGFB receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, non-receptor, TYK2, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, non-receptor, TYK2, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Epidermal growth factor receptor kinase substrate 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Epidermal growth factor receptor kinase substrate 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, CSF-1/PDGF receptor family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, CSF-1/PDGF receptor family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphatidylinositol Kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphatidylinositol Kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase, Sbk1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase, Sbk1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Small membrane A-kinase anchor protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Small membrane A-kinase anchor protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

A-kinase anchor 110kDa, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the A-kinase anchor 110kDa, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyruvate kinase-like, insert domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate kinase-like, insert domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyruvate kinase, alpha/beta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate kinase, alpha/beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Activated CDC42 kinase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Activated CDC42 kinase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NAD kinase, eukaryotic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NAD kinase, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carbohydrate kinase, FGGY, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carbohydrate kinase, FGGY, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dihydroxyacetone kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dihydroxyacetone kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphorylase kinase alpha/beta subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphorylase kinase alpha/beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase, SIK1/2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase, SIK1/2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Citron Rho-interacting kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Citron Rho-interacting kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyruvate kinase, beta-barrel insert domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate kinase, beta-barrel insert domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

G protein-coupled receptor kinase-interacting protein 1 C term Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the G protein-coupled receptor kinase-interacting protein 1 C term protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Receptor-interacting serine/threonine-protein kinase 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Receptor-interacting serine/threonine-protein kinase 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pseudokinase tribbles family/serine-threonine-protein kinase 40 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pseudokinase tribbles family/serine-threonine-protein kinase 40 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RIO kinase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RIO kinase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase, JNK Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase, JNK protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dak kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dak kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyruvate kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphatidylinositol 4-kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphatidylinositol 4-kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GPCR kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GPCR kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

BMP-2-inducible protein kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the BMP-2-inducible protein kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nucleoside diphosphate kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoside diphosphate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylylsulphate kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylylsulphate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, neurotrophic receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, neurotrophic receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

PI3 kinase, P85 regulatory subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the PI3 kinase, P85 regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Microtubule-associated serine/threonine-protein kinase 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Microtubule-associated serine/threonine-protein kinase 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Microtubule-associated serine/threonine-protein kinase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Microtubule-associated serine/threonine-protein kinase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Riboflavin kinase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Riboflavin kinase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Riboflavin kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Riboflavin kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cyclin-dependent kinase inhibitor 2A Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cyclin-dependent kinase inhibitor 2A protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protein kinase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine protein kinase, EGF/ERB/XmrK receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine protein kinase, EGF/ERB/XmrK receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cyclin-dependent kinase inhibitor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cyclin-dependent kinase inhibitor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein kinase Bud32 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein kinase Bud32 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cyclin-dependent kinase 2-associated protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cyclin-dependent kinase 2-associated protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nucleoside diphosphate kinase, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoside diphosphate kinase, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Riboflavin kinase domain, bacterial/eukaryotic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Riboflavin kinase domain, bacterial/eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Guanylate kinase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Guanylate kinase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.