Harmonizome 3.0

GTP binding protein overexpressed in skeletal muscle

The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

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]

gem (nuclear organelle) associated protein 8 pseudogene 2

gem (nuclear organelle) associated protein 7 pseudogene

gem (nuclear organelle) associated protein 7

The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear `gems` (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GEM interacting protein

This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

gem (nuclear organelle) associated protein 8

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

gem (nuclear organelle) associated protein 2

This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]

gem (nuclear organelle) associated protein 6

GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]

gem (nuclear organelle) associated protein 4

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

gem (nuclear organelle) associated protein 5

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

gem (nuclear organelle) associated protein 8 pseudogene 4

gem (nuclear organelle) associated protein 8 pseudogene 3

gem (nuclear organelle) associated protein 8 pseudogene 1

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]

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]

gem-associated protein 2-like

gem (nuclear organelle) associated protein 2 pseudogene 2

gem (nuclear organelle) associated protein 2 pseudogene 1

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]

immunoglobulin superfamily, member 9B

Predicted to enable kinase binding activity. Predicted to be involved in synaptic membrane adhesion. Predicted to act upstream of or within homophilic cell adhesion via plasma membrane adhesion molecules and positive regulation of inhibitory postsynaptic potential. Predicted to be located in dendrite; inhibitory synapse; and neuronal cell body. Predicted to be active in GABA-ergic synapse; neuron projection; and postsynaptic specialization of symmetric synapse. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, member 10

Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, member 3 pseudogene

tumor necrosis factor receptor superfamily, member 12A

Involved in positive regulation of extrinsic apoptotic signaling pathway and regulation of wound healing. Predicted to be located in cell surface and ruffle. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain pseudogene

immunoglobulin superfamily member 3-like

immunoglobulin superfamily, member 8

This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

immunoglobulin superfamily, member 9

Predicted to enable cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Predicted to act upstream of or within dendrite development and regulation of synapse organization. Predicted to be located in dendrite and inhibitory synapse. Predicted to be active in axon; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, member 5

Predicted to enable PDZ domain binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in apical plasma membrane. Predicted to be active in bicellular tight junction and cell surface. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, member 6

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway and immune response. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, member 1

This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

immunoglobulin superfamily, member 3

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]

immunoglobulin superfamily, DCC subclass, member 3 pseudogene

major facilitator superfamily domain containing 10

This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

region containing immunoglobulin superfamily, member 6 and DREV1

immunoglobulin superfamily containing leucine-rich repeat

Predicted to be involved in cell adhesion. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

thioesterase superfamily member 4 pseudogene 1

tumor necrosis factor receptor superfamily, member 10a

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 21

This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]

tumor necrosis factor receptor superfamily, member 25

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [provided by RefSeq, Jul 2008]

major facilitator superfamily domain containing 11

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

major facilitator superfamily domain containing 12

Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane 7 superfamily member 3

Involved in cellular response to unfolded protein; negative regulation of programmed cell death; and positive regulation of insulin secretion. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane 7 superfamily member 2

Enables delta14-sterol reductase activity. Involved in cholesterol biosynthetic process. Located in endoplasmic reticulum. Part of receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobin superfamily, member 21 pseudogene

transmembrane 9 superfamily protein member 4

Involved in several processes, including positive regulation of protein localization; regulation of intracellular pH; and vacuolar proton-transporting V-type ATPase complex assembly. Located in Golgi apparatus and early endosome. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane 9 superfamily member 1

Predicted to be involved in protein localization to membrane. Predicted to be located in autophagosome membrane; cytoplasmic vesicle; and lysosomal membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane 9 superfamily member 3

Predicted to be involved in protein localization to membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane 9 superfamily member 2

This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]

major facilitator superfamily domain containing 6-like

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

immunoglobulin superfamily, member 11

IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]

tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 10b

The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009]

tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [provided by RefSeq, Jul 2008]

immunoglobulin superfamily, DCC subclass, member 3

Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within neuromuscular process controlling balance. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin superfamily, DCC subclass, member 4

Predicted to be involved in cell-cell adhesion. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

thioesterase superfamily member 6

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

thioesterase superfamily member 5

Enables long-chain fatty acyl-CoA hydrolase activity. Involved in long-chain fatty-acyl-CoA metabolic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

thioesterase superfamily member 4

Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008]

immunoglobulin superfamily DCC subclass member 3-like

immunoglobulin superfamily containing leucine-rich repeat 2

Predicted to be involved in positive regulation of axon extension. Predicted to be located in plasma membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Mar 2025]

lymphotoxin beta receptor (TNFR superfamily, member 3)

This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]

tumor necrosis factor (ligand) superfamily, member 9

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]

tumor necrosis factor (ligand) superfamily, member 4

This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

major facilitator superfamily domain containing 9

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 6

Predicted to enable MHC class I protein binding activity and MHC class I receptor activity. Predicted to be involved in antigen processing and presentation of exogenous peptide antigen via MHC class I. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

tumor necrosis factor receptor superfamily, member 8

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 9

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 4

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]

tumor necrosis factor (ligand) superfamily, member 13

The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]

tumor necrosis factor (ligand) superfamily, member 12

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]

tumor necrosis factor (ligand) superfamily, member 11

This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]

tumor necrosis factor (ligand) superfamily, member 10

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

tumor necrosis factor (ligand) superfamily, member 18

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008]

thioesterase superfamily member 4 pseudogene

tumor necrosis factor (ligand) superfamily, member 15

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

tumor necrosis factor (ligand) superfamily, member 14

The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 6b, decoy

This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript. [provided by RefSeq, Feb 2011]

immunoglobulin superfamily member 3-like

tumor necrosis factor receptor superfamily, member 13B

The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 13C

B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]

transmembrane 9 superfamily member 2 pseudogene

immunoglobulin superfamily member 2-like

transmembrane 6 superfamily member 1

Predicted to be located in endomembrane system; lysosome; and membrane. Predicted to be active in lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane 6 superfamily member 2

Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. [provided by Alliance of Genome Resources, Mar 2025]

tumor necrosis factor (ligand) superfamily, member 13b

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

tumor necrosis factor receptor superfamily, member 17

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 14

This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

tumor necrosis factor receptor superfamily, member 18

This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011]

tumor necrosis factor receptor superfamily, member 19

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 1B

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]

tumor necrosis factor receptor superfamily, member 1A

This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]

CD40 molecule, TNF receptor superfamily member 5

This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]

major facilitator superfamily domain containing 2A

The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]

major facilitator superfamily domain containing 2B

Enables sphingolipid transporter activity. Involved in lipid transport. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

enolase superfamily member 1

This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]

immunoglobulin superfamily, DCC subclass, member 3 pseudogene

Fas ligand (TNF superfamily, member 6)

This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]

lymphotoxin beta (TNF superfamily, member 3)

Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

major facilitator superfamily domain containing 1 pseudogene 1

major facilitator superfamily domain containing 8

This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]

major facilitator superfamily domain containing 1

Enables dipeptide uniporter activity. Involved in dipeptide transmembrane transport from lysosomal lumen to cytosol. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 3

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 5

Enables molybdate ion transmembrane transporter activity. Involved in molybdate ion transport. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 4

Predicted to enable D-glucose transmembrane transporter activity. Predicted to be involved in hexose transmembrane transport. Predicted to be located in membrane. Biomarker of cholangiocarcinoma. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 7

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

tumor necrosis factor (ligand) superfamily, member 8

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

immunoglobulin superfamily, member 23

This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011]

immunoglobulin superfamily, member 22

immunoglobin superfamily, member 21

This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011]

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]

tumor necrosis factor receptor superfamily, member 11b

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

major facilitator superfamily domain containing 14B

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 4A

Predicted to enable D-glucose transmembrane transporter activity. Predicted to be involved in hexose transmembrane transport. Predicted to be located in membrane. Biomarker of cholangiocarcinoma. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 13A

Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 14A

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within acrosome assembly; sperm mitochondrion organization; and spermatid nucleus differentiation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 4B

Predicted to enable D-glucose transmembrane transporter activity. Predicted to be involved in hexose transmembrane transport and sodium ion transport. Predicted to be located in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

major facilitator superfamily domain containing 14C, pseudogene

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

RAB3 GTPase activating protein subunit 2 (non-catalytic)

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

RAB3 GTPase activating protein subunit 1 (catalytic)

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

GTPase activating protein (SH3 domain) binding protein 1

This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. 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]

Rho GTPase activating protein 44

Enables phospholipid binding activity. Predicted to be involved in several processes, including modification of dendritic spine; negative regulation of Rac protein signal transduction; and regulation of plasma membrane bounded cell projection organization. Located in leading edge membrane. Implicated in acquired immunodeficiency syndrome and skin melanoma. Biomarker of hepatocellular carcinoma and lung carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 40

Predicted to enable GTPase activator activity. Predicted to be involved in regulation of actin filament polymerization and regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CDC42 effector protein (Rho GTPase binding) 3

This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

CDC42 effector protein (Rho GTPase binding) 2

CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]

CDC42 effector protein (Rho GTPase binding) 1

CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]

CDC42 effector protein (Rho GTPase binding) 5

Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013]

CDC42 effector protein (Rho GTPase binding) 4

The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]

RAS p21 protein activator (GTPase activating protein) 1

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]

SLIT-ROBO Rho GTPase activating protein 2D (pseudogene)

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. This duplicated locus lacks an internal exon, and thus this gene copy may not be functional. Expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, May 2014]

retinitis pigmentosa GTPase regulator interacting protein 1

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

Rho GTPase activating protein 27 pseudogene

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]

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]

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]

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]

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]

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]

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]

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

Rac GTPase activating protein 1 pseudogene

GPN-loop GTPase 3

Predicted to enable GTPase activity. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

GPN-loop GTPase 1

This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Ran GTPase activating protein 1

This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GTPase activating Rap/RanGAP domain-like 3

Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

immunity-related GTPase family, Q

Predicted to enable GTP binding activity. [provided by Alliance of Genome Resources, Mar 2025]

immunity-related GTPase family, cinema

Predicted to enable GTPase activity. Predicted to be involved in positive regulation of flagellated sperm motility. Located in lipid droplet and sperm mitochondrial sheath. [provided by Alliance of Genome Resources, Mar 2025]

immunity-related GTPase family, M

This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]

Rho GTPase activating protein 16 pseudogene

Rho GTPase activating protein 42 pseudogene 5

Rho GTPase activating protein 42 pseudogene 4

Rho GTPase activating protein 42

This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]

RAP1 GTPase activating protein

This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]

rhophilin, Rho GTPase binding protein 1

Predicted to be involved in negative regulation of stress fiber assembly. Predicted to act upstream of or within several processes, including focal adhesion assembly; glomerular filtration; and renal albumin absorption. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 23

The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]

Rho GTPase activating protein 22

This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Rho GTPase activating protein 21

ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]

Rho GTPase activating protein 20

The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]

Rho GTPase activating protein 27

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]

Rho GTPase activating protein 26

Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]

Rho GTPase activating protein 25

ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]

Rho GTPase activating protein 24

This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Rho GTPase activating protein 29

Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]

Rho GTPase activating protein 28

Predicted to enable GTPase activator activity. Predicted to be involved in negative regulation of stress fiber assembly; regulation of actin filament polymerization; and regulation of small GTPase mediated signal transduction. Located in cell junction and nucleoplasm. Implicated in allergic disease. Biomarker of meningioma. [provided by Alliance of Genome Resources, Mar 2025]

Rho family GTPase 1

This gene encodes a protein that belongs to the Rho GTPase family. Members of this family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. A similar protein in rat interacts with a microtubule regulator to control axon extension. [provided by RefSeq, Apr 2014]

Rho family GTPase 2

This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008]

Rho family GTPase 3

This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]

RAB GTPase activating protein 1

Enables GTPase activator activity and small GTPase binding activity. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

SLIT-ROBO Rho GTPase activating protein 2C

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]

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]

Rho GTPase activating protein 42 pseudogene 3

Rho GTPase activating protein 42 pseudogene 2

RAP1 GTPase activating protein 2

This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

mitochondrial ribosome-associated GTPase 2

Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]

mitochondrial ribosome-associated GTPase 1

Enables GTPase activity. Involved in regulation of mitochondrial translation and regulation of respiratory system process. Located in mitochondrial inner membrane; mitochondrial ribosome; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 21 pseudogene

atlastin GTPase 3

This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]

atlastin GTPase 2

Enables identical protein binding activity. Involved in Golgi organization; endoplasmic reticulum tubular network membrane organization; and protein homooligomerization. Located in endoplasmic reticulum tubular network membrane. [provided by Alliance of Genome Resources, Mar 2025]

atlastin GTPase 1

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4

secretion associated, Ras related GTPase 1A

Enables G protein activity and amino acid sensor activity. Involved in COPII-coated vesicle budding; cellular response to leucine starvation; and negative regulation of TORC1 signaling. Is active in COPII vesicle coat; endoplasmic reticulum exit site; and lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

secretion associated, Ras related GTPase 1B

The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

Rho GTPase activating protein 42 pseudogene 1

Rho GTPase activating protein 20 pseudogene

Rho GTPase activating protein 5 pseudogene

Rho GTPase activating protein 23 pseudogene

Rho GTPase activating protein 27 pseudogene

CDC42 effector protein (Rho GTPase binding) 3 pseudogene 1

Rho GTPase activating protein 20 pseudogene

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5-like

GPN-loop GTPase 3 pseudogene 1

MX dynamin-like GTPase 1 pseudogene

Rho GTPase activating protein 33 pseudogene

SLIT-ROBO Rho GTPase activating protein 2B

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012]

rho GTPase-activating protein 23-like

retinitis pigmentosa GTPase regulator

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]

MX dynamin-like GTPase 2

The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq, Jul 2008]

MX dynamin-like GTPase 1

This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Ral GTPase activating protein, alpha subunit 1 (catalytic) pseudogene

RAB GTPase activating protein 1-like

Enables GTPase activator activity and small GTPase binding activity. Acts upstream of or within regulation of protein localization. Located in several cellular components, including Golgi apparatus; cilium; and early endosome. [provided by Alliance of Genome Resources, Mar 2025]

rhophilin, Rho GTPase binding protein 2

This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]

GTPase, IMAP family member 8

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]

GTPase, IMAP family member 4

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]

GTPase, IMAP family member 5

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010]

GTPase, IMAP family member 6

This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011]

GTPase, IMAP family member 7

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]

GTPase, IMAP family member 1

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene is thought to be involved in the differentiation of T helper (Th) cells of the Th1 lineage, and the related mouse gene has been shown to be critical for the development of mature B and T lymphocytes. Read-through transcription exists between this gene and the downstream GIMAP5 (GTPase, IMAP family member 5) gene. [provided by RefSeq, Dec 2010]

GTPase, IMAP family member 2

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]

Ral GTPase activating protein, alpha subunit 2 (catalytic)

Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

nuclear GTPase, germinal center associated

Enables GTPase activity. Involved in cellular response to lipopolysaccharide; negative regulation of apoptotic process; and regulation of nuclear cell cycle DNA replication. Predicted to be located in nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 11A

This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]

Rho GTPase activating protein 11B

Predicted to enable GTPase activator activity. Involved in cerebral cortex development and negative regulation of mitochondrial membrane permeability. Acts upstream of with a positive effect on glutamine catabolic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

HBS1-like translational GTPase

This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]

GUF1 GTPase homolog (S. cerevisiae)

This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Rho GTPase activating protein 30

Predicted to enable GTPase activator activity. Predicted to be involved in small GTPase-mediated signal transduction. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 31

This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]

Rho GTPase activating protein 32

RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]

Rho GTPase activating protein 33

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]

Rho GTPase activating protein 35

The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]

Rho GTPase activating protein 36

Predicted to enable GTPase activator activity. Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 39

Predicted to enable GTPase activator activity. Involved in postsynapse organization. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 23 pseudogene 1

Ral GTPase activating protein, alpha subunit 1 (catalytic)

This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]

GTPase activating protein (SH3 domain) binding protein 2

Enables molecular condensate scaffold activity. Involved in positive regulation of stress granule assembly; protein homooligomerization; and stress granule assembly. Located in cytoplasmic stress granule and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

GPN-loop GTPase 1 pseudogene

synapse defective 1, Rho GTPase, homolog 2 (C. elegans)

Predicted to enable GTPase activator activity. Acts upstream of or within cell migration. Predicted to be located in cytosol. Predicted to be active in synaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

synapse defective 1, Rho GTPase, homolog 1 (C. elegans)

The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]

ADP-ribosylation factor GTPase activating protein 2

Predicted to enable GTPase activator activity. Predicted to be involved in COPI coating of Golgi vesicle. Located in Golgi apparatus; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

Rac GTPase activating protein 1

This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]

Rho GTPase activating protein 20 pseudogene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 pseudogene

ADP-ribosylation factor GTPase activating protein 3

The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]

ADP-ribosylation factor GTPase activating protein 1

The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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]

Rho GTPase activating protein 21 pseudogene

HBS1-like translational GTPase pseudogene

Rho GTPase activating protein 8

This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

Rho GTPase activating protein 9

This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Rho GTPase activating protein 4

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Rho GTPase activating protein 5

Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Rho GTPase activating protein 6

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Rho GTPase activating protein 1

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]

GPN-loop GTPase 2

Predicted to enable GTPase activity. [provided by Alliance of Genome Resources, Mar 2025]

rabaptin, RAB GTPase binding effector protein 2

Predicted to enable GTPase activator activity and growth factor activity. Involved in regulation of cilium assembly. Located in cytosol; intracellular membrane-bounded organelle; and microtubule organizing center. [provided by Alliance of Genome Resources, Mar 2025]

rabaptin, RAB GTPase binding effector protein 1

Enables protein domain specific binding activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in endocytic vesicle and endosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

GTPase activating protein (SH3 domain) binding protein 1 pseudogene

DLC1 Rho GTPase activating protein

This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]

GTPase, IMAP family member 3 pseudogene

Rho GTPase activating protein 17

RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]

Rho GTPase activating protein 15

RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008]

Rho GTPase activating protein 12

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Rho GTPase activating protein 10

Predicted to enable GTPase activator activity. Predicted to be involved in cytoskeleton organization and negative regulation of apoptotic process. Located in cytosol and endosome membrane. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 18

Enables GTPase activator activity. Involved in several processes, including regulation of actin filament polymerization; regulation of small GTPase mediated signal transduction; and small GTPase-mediated signal transduction. Located in cytosol; nuclear speck; and plasma membrane. Part of cytoplasmic microtubule and ruffle. Implicated in schizophrenia. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 19

Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]

large 60S subunit nuclear export GTPase 1

This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

SLIT-ROBO Rho GTPase activating protein 1

The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

SLIT-ROBO Rho GTPase activating protein 3

Predicted to enable GTPase activator activity. Predicted to be involved in negative regulation of cell migration and regulation of postsynapse assembly. Is active in postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

SLIT-ROBO Rho GTPase activating protein 2

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]

IQ motif containing GTPase activating protein 1

This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]

IQ motif containing GTPase activating protein 2

This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

IQ motif containing GTPase activating protein 3

Enables calmodulin binding activity and myosin VI light chain binding activity. Predicted to be involved in mitotic actomyosin contractile ring assembly actin filament organization. Predicted to act upstream of or within several processes, including G1/S transition of mitotic cell cycle; intracellular signaling cassette; and regulation of macromolecule metabolic process. Predicted to be located in cytosol. Predicted to be active in cell cortex. [provided by Alliance of Genome Resources, Mar 2025]

MX dynamin-like GTPase 1 pseudogene

MX dynamin-like GTPase 1 pseudogene

GTPase, very large interferon inducible pseudogene 1

Predicted to enable GTP binding activity. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

GTPase, very large interferon inducible pseudogene 2

synaptic Ras GTPase activating protein 1

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

rhophilin, Rho GTPase binding protein 2 pseudogene 1

Predicted to be involved in negative regulation of stress fiber assembly. [provided by Alliance of Genome Resources, Mar 2025]

Ral GTPase activating protein, beta subunit (non-catalytic)

Enables protein heterodimerization activity. Predicted to be involved in Ral protein signal transduction and activation of GTPase activity. Predicted to act upstream of or within regulation of exocyst localization and regulation of protein localization. [provided by Alliance of Genome Resources, Mar 2025]

elongation factor like GTPase 1

Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and cytosolic ribosome assembly. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytosol. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Mar 2025]

Rho GTPase activating protein 45

Predicted to enable GTPase activator activity. Predicted to be involved in negative regulation of small GTPase mediated signal transduction. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

Zn regulated GTPase metalloprotein activator 1A

Predicted to enable GTPase activity and zinc chaperone activity. Involved in kidney development. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ADP ribosylation factor like GTPase 4A pseudogene 5

Zn regulated GTPase metalloprotein activator 1F

Predicted to enable GTP binding activity; hydrolase activity; and metal ion binding activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

Zn regulated GTPase metalloprotein activator 1E

Predicted to enable GTPase activity and zinc chaperone activity. Predicted to be involved in protein maturation. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

Zn regulated GTPase metalloprotein activator 1B

Predicted to enable GTP binding activity; hydrolase activity; and metal ion binding activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

Zn regulated GTPase metalloprotein activator 1D, pseudogene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 12, pseudogene

Zn regulated GTPase metalloprotein activator 1C

Predicted to enable GTP binding activity; hydrolase activity; and metal ion binding activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5B small nuclear 1

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide C pseudogene 6

serine palmitoyltransferase small subunit A pseudogene

RNA, U6 small nuclear 67, pseudogene

RNA, U7 small nuclear 36 pseudogene

small nucleolar RNA, H/ACA box 81

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

small nucleolar RNA, H/ACA box 84

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small G protein signaling modulator 3

Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including Rap protein signal transduction; positive regulation of GTPase activity; and regulation of Rab protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-14

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-16

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-17

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-10

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 16, pseudogene

KRR1, small subunit (SSU) processome component, homolog (yeast)

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome; intercellular bridge; and nuclear lumen. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 53 pseudogene

RNA, U5A small nuclear 5, pseudogene

small nucleolar RNA, C/D box 48

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 90

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 41

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 47

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 44

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 93

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 4B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 4A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) pseudogene

small ubiquitin-like modifier 1 pseudogene

U2 small nuclear RNA auxiliary factor 1-like 4

Predicted to enable pre-mRNA 3'-splice site binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be part of U2AF complex and spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U2 small nuclear 6, pseudogene

small nucleolar RNA, C/D box 91B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 91A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein 27kDa (U4/U6.U5) pseudogene

small nucleolar RNA, C/D box 115-6

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-7

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-4

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-1

This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008]

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNA, U7 small nuclear 1

Implicated in Aicardi-Goutieres syndrome. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 46, pseudogene

small EDRK-rich factor 2

Involved in protein destabilization. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 45A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

small nucleolar RNA, C/D box 111B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

RNA, U5E small nuclear 6, pseudogene

RNA, U7 small nuclear 24 pseudogene

small nuclear ribonucleoprotein D3 polypeptide 18kDa

This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

small nuclear ribonucleoprotein D2 polypeptide 16.5kDa

The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

small nuclear ribonucleoprotein D1 polypeptide 16kDa

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)

This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]

small EDRK-rich factor 2 pseudogene

RNA, U1 small nuclear 28, pseudogene

RNA, U1 small nuclear 13, pseudogene

RNA, U7 small nuclear 5 pseudogene

small proline-rich protein 4

Predicted to be involved in keratinization. Predicted to be located in cell cortex. [provided by Alliance of Genome Resources, Mar 2025]

small proline-rich protein 3

Predicted to enable structural molecule activity. Predicted to be involved in keratinocyte differentiation and wound healing. Located in Golgi apparatus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6atac small nuclear 5, pseudogene

LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]

LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

small nuclear ribonucleoprotein polypeptide G pseudogene 9

small nuclear ribonucleoprotein polypeptide G pseudogene 7

small nuclear ribonucleoprotein polypeptide G pseudogene 6

small nuclear ribonucleoprotein polypeptide G pseudogene 5

small nuclear ribonucleoprotein polypeptide G pseudogene 4

small nuclear ribonucleoprotein polypeptide G pseudogene 1

small nuclear ribonucleoprotein polypeptide N pseudogene

small integral membrane protein 12-like

small EDRK-rich factor 2 pseudogene

small nucleolar RNA, C/D box 12C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 12B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 123

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 127

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 124

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 62 pseudogene

RNA, U6 small nuclear 79, pseudogene

RNA, U4 small nuclear 7, pseudogene

RNA, U6 small nuclear 8

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 9

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 7

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 1

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 2

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 69, pseudogene

small nucleolar RNA, H/ACA box 9

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 8

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 1

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 4

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 6

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 20, pseudogene

small G protein signaling modulator 1 pseudogene

ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)

This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]

small integral membrane protein 13

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

small integral membrane protein 12

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 11

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

small integral membrane protein 10

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

small integral membrane protein 17

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

small integral membrane protein 15

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

small integral membrane protein 14

Predicted to act upstream of or within blastocyst hatching. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 19

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

small integral membrane protein 18

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

RNA, U7 small nuclear 47 pseudogene

RNA, U7 small nuclear 86 pseudogene

small nucleolar RNA, C/D box 121B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 121A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 13 pseudogene

RNA, U6 small nuclear 36, pseudogene

RNA, U4atac small nuclear 2, pseudogene

RNA, U6 small nuclear 64, pseudogene

small nuclear ribonucleoprotein 200kDa (U5)

Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]

RNA, U5B small nuclear 5, pseudogene

RNA, U6 small nuclear 63, pseudogene

small nucleolar RNA, H/ACA box 74A

Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 74B

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

RNA, U7 small nuclear 54 pseudogene

RNA, U5A small nuclear 2, pseudogene

small nucleolar RNA, C/D box 115-43

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-41

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-47

small nucleolar RNA, C/D box 1A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 1B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 1C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 16

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 10

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 11

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 19

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 32 pseudogene

small nucleolar RNA, C/D box 43

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

small nucleolar RNA, C/D box 46

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-6

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA F

small ILF3/NF90-associated RNA E

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

small ILF3/NF90-associated RNA D

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4

The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]

RNA, U7 small nuclear 33 pseudogene

RNA, U5D small nuclear 2, pseudogene

small nucleolar RNA, H/ACA box 33

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 32

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 31

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. Implicated in brain disease. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 35

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 34

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 38

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 76, pseudogene

RNA, U7 small nuclear 27 pseudogene

small nuclear ribonucleoprotein polypeptide C pseudogene 9

small nuclear ribonucleoprotein polypeptide C pseudogene 8

small nuclear ribonucleoprotein polypeptide C pseudogene 3

small nuclear ribonucleoprotein polypeptide C pseudogene 2

small nuclear ribonucleoprotein polypeptide C pseudogene 7

small nuclear ribonucleoprotein polypeptide C pseudogene 4

small nuclear RNA activating complex, polypeptide 3, 50kDa

Predicted to enable RNA polymerase III type 3 promoter sequence-specific DNA binding activity and bent DNA binding activity. Predicted to contribute to RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and core promoter sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nuclear body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear RNA activating complex, polypeptide 2, 45kDa

This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

small nuclear RNA activating complex, polypeptide 1, 43kDa

Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear RNA activating complex, polypeptide 5, 19kDa

This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016]

small nuclear RNA activating complex, polypeptide 4, 190kDa

This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]

small nucleolar RNA, C/D box 98

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 99

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 94

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 95

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 97

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 92

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 21, pseudogene

UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)

This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)

Predicted to be involved in several processes, including meiotic cell cycle; rRNA processing; and spermatogenesis. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U2 small nuclear 3, pseudogene

RNA, U7 small nuclear 75 pseudogene

RNA, U7 small nuclear 4 pseudogene

RNA, 7SK small nuclear pseudogene 1

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

RNA, U5A small nuclear 8, pseudogene

RNA, U6 small nuclear 53, pseudogene

RNA, U6 small nuclear 39, pseudogene

RNA, U5F small nuclear 6, pseudogene

small ILF3/NF90-associated RNA A8

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

RNA, U4 small nuclear 4, pseudogene

small ILF3/NF90-associated RNA G1

small ILF3/NF90-associated RNA G2

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

RNA, U6 small nuclear 83, pseudogene

RNA, U1 small nuclear 27, pseudogene

RNA, U6 small nuclear 48, pseudogene

RNA, U1 small nuclear 18, pseudogene

small integral membrane protein 23

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

small integral membrane protein 20

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 21

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

small integral membrane protein 24

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

RNA, U2 small nuclear 1

The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009]

RNA, U7 small nuclear 42 pseudogene

small nucleolar RNA, C/D box 32A

Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 32B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 85 pseudogene

small cell cancer of the lung

small nucleolar RNA, C/D box 17

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA host gene 5

This gene represent a snoRNA host gene and produces a long non-coding RNA. This RNA may regulate gene expression by acting as a sponge for microRNAs. This transcript may also stabilize mRNAs by blocking degradation by staufen double-stranded RNA binding protein 1. [provided by RefSeq, Dec 2017]

small nucleolar RNA host gene 4

small nucleolar RNA host gene 7

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA host gene 6

small nucleolar RNA host gene 1

This locus represents a small nucleolar RNA host gene that produces multiple alternatively spliced long non-coding RNAs. This gene is upregulated in cancers and is thought to act as promoter of cell proliferation. This transcript negatively regulates tumor suppressor genes such as tumor protein p53. Expression of this locus may be a marker of tumor progression. [provided by RefSeq, Dec 2017]

small nucleolar RNA host gene 8

RNA, U7 small nuclear 28 pseudogene

RNA, U7 small nuclear 65 pseudogene

RNA, U7 small nuclear 38 pseudogene

small nucleolar RNA, C/D box 15B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 15A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 3B-1

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 3B-2

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide B pseudogene

small nuclear ribonucleoprotein polypeptide B pseudogene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

tsukushi, small leucine rich proteoglycan

Predicted to enable transforming growth factor beta binding activity. Predicted to be involved in several processes, including cholesterol efflux; cholesterol homeostasis; and nervous system development. Predicted to act upstream of or within several processes, including ciliary body morphogenesis; negative regulation of Wnt signaling pathway; and telencephalon development. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

u3 small nucleolar ribonucleoprotein protein MPP10-like

small nucleolar RNA, C/D box 83A

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

small nucleolar RNA, C/D box 83B

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

small nucleolar RNA, H/ACA box 71C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 71B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 71A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 71E

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 66, pseudogene

small nucleolar RNA, C/D box 85

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 8 pseudogene

small nucleolar RNA, C/D box 114-31

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114-30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small lysine-rich protein 1

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNA, U7 small nuclear 14 pseudogene

small nuclear ribonucleoprotein polypeptide B pseudogene

RNA, variant U1 small nuclear 17

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 14

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 15

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 11

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 18

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 19

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 12

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 30 pseudogene

small nucleolar RNA, C/D box 13

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 11 pseudogene 1

small nucleolar RNA, H/ACA box 68

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 64

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 65

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 66

This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009]

small nucleolar RNA, H/ACA box 67

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 60

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 61

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 62

Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 63

Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116 cluster

small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1

small nuclear ribonucleoprotein polypeptide G pseudogene 13

small nuclear ribonucleoprotein polypeptide G pseudogene 12

small nuclear ribonucleoprotein polypeptide G pseudogene 11

small nuclear ribonucleoprotein polypeptide G pseudogene 14

small nucleolar RNA, C/D box 116-25

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-27

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-21

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5E small nuclear 8, pseudogene

RNA, U7 small nuclear 51 pseudogene

small nucleolar RNA, C/D box 65

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 64

This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]

small nucleolar RNA, C/D box 67

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 66

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 61

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in an intron of the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq, Sep 2009]

small nucleolar RNA, C/D box 60

Predicted to be involved in RNA processing. Predicted to act upstream of or within intracellular cholesterol transport. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 63

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 69

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 68

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 15, pseudogene

RNA, U2 small nuclear 4, pseudogene

RNA, U1 small nuclear 15, pseudogene

RNA, U5F small nuclear 4, pseudogene

RNA, U6atac small nuclear 3, pseudogene

small VCP/p97-interacting protein

Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

small integral membrane protein 22

Involved in several processes, including lipid droplet formation; positive regulation of cell migration; and regulation of actin cytoskeleton organization. Predicted to be located in late endosome and membrane. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 72 pseudogene

RNA, U6 small nuclear 56, pseudogene

small nucleolar RNA, C/D box 114-20

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein polypeptide G pseudogene 8

small nucleolar RNA, C/D box 115-21

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-20

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-23

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-22

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-25

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-24

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-27

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-26

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-29

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-28

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

RNA, U3 small nucleolar pseudogene 2

RNA, U3 small nucleolar pseudogene 3

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U3 small nucleolar pseudogene 1

RNA, U3 small nucleolar pseudogene 4

small nucleolar RNA host gene 15

This gene represents a snoRNA host gene that produces a short-lived long non-coding RNA. This non-coding RNA is upregulated in tumor cells and may contribute to cell proliferation by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]

small nucleolar RNA host gene 14

This gene is located within the Prader-Willi critical region and produces a long, spliced paternally-imprinted RNA that initiates within a common upstream promoter region shared by the SNRPN (small nuclear ribonucleoprotein polypeptide N) and SNURF genes. This transcript serves as a host RNA for the small nucleolar RNA, C/D box 115 and 116 clusters. This RNA extends in antisense into the region of the ubiquitin protein ligase E3A gene (UBE3A), and is thought to regulate imprinted expression of UBE3A in the brain. This transcript undergoes extensive alternative splicing, and may initiate and terminate at multiple locations within this genomic region. The full-length structure of all splice forms is not determined. [provided by RefSeq, Mar 2017]

small nucleolar RNA host gene 17

small nucleolar RNA host gene 16

small nucleolar RNA host gene 11

This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008]

small nucleolar RNA host gene 12

This gene produces a long RNA that is overexpressed in tumor cells. This RNA may promote tumorigenesis by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]

small nucleolar RNA host gene 19

small nucleolar RNA host gene 18

small nucleolar RNA, H/ACA box 80E

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 80B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 80A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U4 small nuclear 9, pseudogene

RNA, U6 small nuclear 71, pseudogene

small nucleolar RNA, H/ACA box 45A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 22 pseudogene

small nuclear ribonucleoprotein polypeptide B

The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1

RNA, U7 small nuclear 59 pseudogene

small nucleolar RNA, C/D box 88A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 88B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 88C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 26, pseudogene

UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)

Enables RNA binding activity. Involved in nervous system development; positive regulation of apoptotic process; and ribosomal small subunit biogenesis. Located in cytoplasm; extracellular space; and nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 10, pseudogene

small nucleolar RNA, C/D box 114-1

Small nucleolar RNAs (snoRNAs), like SNORD114-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD114-1 is 1 of 31 tandem SNORD114 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

small nucleolar RNA, C/D box 114-6

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114-5

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114-4

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ash1 (absent, small, or homeotic)-like (Drosophila)

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

UTP6, small subunit (SSU) processome component, homolog (yeast) pseudogene

UTP18, small subunit (SSU) processome component, homolog (yeast) pseudogene

RNA, U7 small nuclear 41 pseudogene

small Cajal body-specific RNA 27

small Cajal body-specific RNA 22

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 23

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 20

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 21

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6atac small nuclear 4, pseudogene

RNA, U1 small nuclear 3

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 2

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 31, pseudogene

small nucleolar RNA, C/D box 115-5

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-2

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-3

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-8

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-9

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 101

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 100

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 102

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 105

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 104

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 107

Small nucleolar RNAs (snoRNAs) are small non-coding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011]

small nucleolar RNA, C/D box 108

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 60 pseudogene

U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

small nucleolar RNA, C/D box 23

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small ILF3/NF90-associated RNA B2

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

small ILF3/NF90-associated RNA B1

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

RNA, U5B small nuclear 3, pseudogene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

small nuclear ribonucleoprotein 40kDa (U5)

This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

small nuclear ribonucleoprotein 48kDa (U11/U12)

Predicted to enable metal ion binding activity. Predicted to be involved in RNA splicing. Located in cytosol and nucleoplasm. Part of U12-type spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]

CDC42 small effector 2

Enables signaling adaptor activity. Involved in regulation of signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CDC42 small effector 1

Predicted to enable GTPase inhibitor activity. Predicted to be involved in signal transduction. Located in cell junction. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 22, pseudogene

small Cajal body-specific RNA 5

Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025]

small Cajal body-specific RNA 4

Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small cell adhesion glycoprotein

Located in cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

RNA, 7SK small nuclear pseudogene 8

RNA, 7SK small nuclear pseudogene 9

RNA, 7SK small nuclear pseudogene 6

RNA, 7SK small nuclear pseudogene 7

RNA, 7SK small nuclear pseudogene 4

RNA, 7SK small nuclear pseudogene 5

RNA, 7SK small nuclear pseudogene 2

RNA, 7SK small nuclear pseudogene 3

small Cajal body-specific RNA 2

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA host gene 3

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

small integral membrane protein 2

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

small integral membrane protein 1 (Vel blood group)

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

small nucleolar RNA host gene 9

RNA, U7 small nuclear 80 pseudogene

RNA, U7 small nuclear 11 pseudogene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

RNA, U7 small nuclear 35 pseudogene

small nucleolar RNA, C/D box 45C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 45B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 68 pseudogene

small nucleolar RNA, C/D box 18A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 18C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 18B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 53

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 10 like 1

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 76C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 76A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 52 pseudogene

RNA, U5A small nuclear 4, pseudogene

small nucleolar RNA, C/D box 3D

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 3 cluster

small nucleolar RNA, C/D box 3A

U3 RNA, an abundant small nucleolar RNA (snoRNA), is thought to play a role in the processing of ribosomal RNA precursors (Bernstein et al., 1983 [PubMed 6186397]).[supplied by OMIM, Jun 2009]

small nucleolar RNA, C/D box 37

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 34

Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 33

Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 31

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U6 small nuclear 45, pseudogene

RNA, U6 small nuclear 34, pseudogene

LSM1, U6 small nuclear RNA associated pseudogene 1

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

RNA, U6 small nuclear 55, pseudogene

small nucleolar RNA, H/ACA box 19

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 18

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 15

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 17

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 12

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

RNA, U5F small nuclear 7, pseudogene

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

RNA, U7 small nuclear 19 pseudogene

RNA, U7 small nuclear 78 pseudogene

RNA, U4atac small nuclear (U12-dependent splicing)

The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]

RNA, U7 small nuclear 25 pseudogene

RNA, U7 small nuclear 81 pseudogene

small ILF3/NF90-associated RNA C3

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

RNA, U6 small nuclear 23, pseudogene

RNA, U7 small nuclear 10 pseudogene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1

This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in protein dephosphorylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like

Predicted to enable RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of G1/S transition of mitotic cell cycle and negative regulation of protein phosphorylation. Located in extracellular exosome. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 20 pseudogene

small nucleolar RNA, C/D box 116-10

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-12

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 6 pseudogene

RNA, U7 small nuclear 77 pseudogene

RNA, 7SK small nuclear

Predicted to be involved in negative regulation of transcription elongation by RNA polymerase II. Part of 7SK snRNP. [provided by Alliance of Genome Resources, Mar 2025]

UTP18 small subunit (SSU) processome component homolog (yeast)

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nuclear membrane; nucleolus; and nucleoplasm. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 36A

Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residues U105 and U1244 of 18S rRNA. [provided by RefSeq, Feb 2009]

small ILF3/NF90-associated RNA A14

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

small ILF3/NF90-associated RNA A11

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

small ILF3/NF90-associated RNA A10

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

small nucleolar RNA, C/D box 3C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 105B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5D small nuclear 1

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U4 small nuclear 6, pseudogene

small nucleolar RNA, H/ACA box 71D

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

small ILF3/NF90-associated RNA A3

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

small ILF3/NF90-associated RNA A2

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

small ILF3/NF90-associated RNA A7

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

small ILF3/NF90-associated RNA A6

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

small ILF3/NF90-associated RNA A5

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

small ILF3/NF90-associated RNA A4

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

small nucleolar RNA, H/ACA box 16A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

cms1 ribosomal small subunit homolog (yeast)

Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein 70kDa (U1)

Enables U1 snRNA binding activity. Involved in mRNA splicing, via spliceosome and regulation of RNA splicing. Located in nucleoplasm. Part of U1 snRNP and spliceosomal complex. Implicated in disease of mental health and systemic lupus erythematosus. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 49 pseudogene

RNA, U5E small nuclear 1

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 70

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 21, pseudogene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

RNA, U7 small nuclear 44 pseudogene

small nucleolar RNA, C/D box 116-5

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 116-7

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U7 small nuclear 87 pseudogene

RNA, U7 small nuclear 12 pseudogene

RNA, U6atac small nuclear (U12-dependent splicing)

Predicted to enable U4atac snRNA binding activity and pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition and spliceosomal tri-snRNP complex assembly. Predicted to be part of U6atac snRNP. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 62B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 12 pseudogene 1

serine palmitoyltransferase, small subunit A

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

serine palmitoyltransferase, small subunit B

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

small nucleolar RNA, H/ACA box 11

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

small nucleolar RNA, H/ACA box 10

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 13

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

UTP6, small subunit (SSU) processome component, homolog (yeast)

Predicted to enable snoRNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome and nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 126

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 125

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small EDRK-rich factor 2 pseudogene

RNA, U5B small nuclear 6, pseudogene

small nucleolar RNA, H/ACA box 73A

Predicted to be involved in RNA processing. Located in nucleus. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 73B

RNA, U7 small nuclear 57 pseudogene

RNA, U6 small nuclear 52, pseudogene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)

This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]

ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

small ILF3/NF90-associated RNA A12

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

RNA, U7 small nuclear 88 pseudogene

RNA, 7SK small nuclear pseudogene 10

small nuclear ribonucleoprotein polypeptide A' pseudogene

RNA, U6 small nuclear 58, pseudogene

RNA, U5E small nuclear 9, pseudogene

small nucleolar RNA, C/D box 113-1

Small nucleolar RNAs (snoRNAs), like SNORD113-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD113-1 is 1 of 9 tandem SNORD113 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

small nucleolar RNA, C/D box 113-3

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-42

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-40

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-46

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-45

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-44

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-48

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 42B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 42A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 46

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 47

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 44

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 43

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 40

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 41

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 48

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, H/ACA box 49

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 114 cluster

RNA, U7 small nuclear 73 pseudogene

RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence

small nucleolar RNA, C/D box 58A

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 58C

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 58B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 89

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 87

Small nucleolar RNAs (snoRNAs) of the C/D class, such as SNORD87, are involved in 2-prime-methylation of preribosomal RNA precursors (Gogolevskaya et al., 2002 [PubMed 12119114]).[supplied by OMIM, Aug 2008]

small nucleolar RNA, C/D box 86

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 84

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 82

The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM, Mar 2008]

small nucleolar RNA, C/D box 81

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 80

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5E small nuclear 5, pseudogene

small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta

Predicted to enable molecular adaptor activity. Predicted to be involved in post-translational protein targeting to endoplasmic reticulum membrane. Predicted to be part of TRC complex. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha

This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]

small nuclear ribonucleoprotein polypeptide G pseudogene 10

small nuclear ribonucleoprotein polypeptide G pseudogene 15

Predicted to contribute to RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be part of SMN-Sm protein complex and nucleus. Predicted to be active in P granule. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U1 small nuclear 17, pseudogene

RNA, U2 small nuclear 2, pseudogene

RNA, U5F small nuclear 2, pseudogene

RNA, U7 small nuclear 74 pseudogene

RNA, U6 small nuclear 50, pseudogene

small integral membrane protein 3

Enables identical protein binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 7

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

small integral membrane protein 6

Predicted to act upstream of or within negative regulation of ATPase-coupled calcium transmembrane transporter activity. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 5

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

small integral membrane protein 4

Enables mitochondrial ribosome binding activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

small integral membrane protein 9

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

small integral membrane protein 8

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-36

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-37

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-33

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-30

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nucleolar RNA, C/D box 115-31

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

RNA, U5E small nuclear 2, pseudogene

small nucleolar RNA, C/D box 50A

SNORD50A belongs to the C/D box class of small nucleolar RNAs (snoRNAs), which are thought to function as guide RNAs in the site-specific ribose methylation of preribosomal RNA (Kiss-Laszlo et al., 1996 [PubMed 8674114]).[supplied by OMIM, Nov 2009]

small nucleolar RNA, C/D box 50B

SNORD50B is a C/D box-type small nucleolar RNA (snoRNA) that is predicted to function as a guide RNA in 2-prime O-methylation of 28S ribosomal RNA (Tanaka et al., 2000 [PubMed 10792466]).[supplied by OMIM, Feb 2010]

small nucleolar RNA, H/ACA box 16B

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

small nuclear ribonucleoprotein 25kDa (U11/U12)

Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]

small nuclear ribonucleoprotein 27kDa (U4/U6.U5)

This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

RNA, U6 small nuclear 82, pseudogene

RNA, U1 small nuclear 24, pseudogene

RNA, U7 small nuclear 43 pseudogene