Harmonizome 3.0

episodic muscle weakness, X-linked

gastric intrinsic factor (vitamin B synthesis)

This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]

cubilin (intrinsic factor-cobalamin receptor)

Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]

lens intrinsic membrane protein 2, 19kDa

This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

major intrinsic protein of lens fiber

Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]

cubilin (intrinsic factor-cobalamin receptor) pseudogene 2

cubilin (intrinsic factor-cobalamin receptor) pseudogene 3

cubilin (intrinsic factor-cobalamin receptor) pseudogene 1

cobalamin binding intrinsic factor

This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]

reticulocalbin 1, EF-hand calcium binding domain pseudogene 1

calcineurin-like EF-hand protein 1 pseudogene

This locus on chromosome 6q25.3 represents a single-exon transcribed pseudogene of the multi-exon calcium binding protein P22 gene which resides on chromosome 15q13.3. This pseudogene is situated within an intron region of the insulin-like growth factor 2 receptor gene (IGF2R). [provided by RefSeq, Jan 2009]

EF-hand calcium binding domain 11

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

EF-hand calcium binding domain 10

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

EF-hand calcium binding domain 13

EF-hand calcium binding domain 12

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

EF-hand calcium binding domain 14

Predicted to enable calcium ion binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

EF-hand and coiled-coil domain containing 1

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

calcineurin-like EF-hand protein 1

This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]

Hand skill, relative

Split-hand/foot malformation with long bone deficiency 3

penta-EF-hand domain containing 1

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

reticulocalbin 1, EF-hand calcium binding domain pseudogene 2

EF-hand domain family, member D2

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

EF-hand domain family, member D1

This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

NADPH oxidase, EF-hand calcium binding domain 5

Enables proton channel activity and superoxide-generating NAD(P)H oxidase activity. Involved in several processes, including endothelial cell proliferation; proton transmembrane transport; and superoxide anion generation. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

EF-hand calcium binding domain 9

This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]

EF-hand calcium binding domain 8

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

EF-hand calcium binding domain 5

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

EF-hand calcium binding domain 7

Predicted to enable calcium ion binding activity. Predicted to be involved in positive regulation of protein import into nucleus; positive regulation of protein localization to ciliary membrane; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasmic side of plasma membrane. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. [provided by Alliance of Genome Resources, Mar 2025]

EF-hand calcium binding domain 6

This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

EF-hand calcium binding domain 1

Predicted to enable calcium ion binding activity. Predicted to be involved in several processes, including cilium movement; outer dynein arm assembly; and regulation of flagellated sperm motility. Predicted to be located in cilium. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Mar 2025]

EF-hand calcium binding domain 3

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

EF-hand calcium binding domain 2

The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]

leucine zipper-EF-hand containing transmembrane protein 2

Predicted to enable transmembrane transporter activity. Predicted to be involved in mitochondrial calcium ion transmembrane transport and mitochondrion organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

EF-hand domain (C-terminal) containing 2

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

EF-hand domain (C-terminal) containing 1

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3

protein phosphatase, EF-hand calcium binding domain 2

This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]

protein phosphatase, EF-hand calcium binding domain 1

This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]

RAS and EF-hand domain containing

This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]

calcineurin-like EF-hand protein 2

This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]

leucine zipper-EF-hand containing transmembrane protein 1

This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]

Split-hand/foot malformation with long deficiency 2

reticulocalbin 3, EF-hand calcium binding domain

Enables calcium ion binding activity. Involved in several processes, including collagen biosynthetic process; positive regulation of peptidase activity; and regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

reticulocalbin 2, EF-hand calcium binding domain

The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

reticulocalbin 1, EF-hand calcium binding domain

Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]

penta-EF-hand domain containing 1 pseudogene

Split-hand/foot malformation with long bone deficiency 1

ankyrin repeat and EF-hand domain containing 1

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

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 1

secretagogin, EF-hand calcium binding protein

The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]

N-terminal EF-hand calcium binding protein 3

The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

N-terminal EF-hand calcium binding protein 2

The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016]

N-terminal EF-hand calcium binding protein 1

Enables identical protein binding activity. Predicted to be involved in regulation of amyloid precursor protein biosynthetic process. Predicted to act upstream of or within blastocyst hatching. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, ZZ-type with EF-hand domain 1

Enables histone reader activity; lysine-acetylated histone binding activity; and methylated histone binding activity. Predicted to be involved in chromatin organization. Predicted to act upstream of or within several processes, including glutamatergic synaptic transmission; regulation of peptidyl-tyrosine phosphorylation; and visual learning. Predicted to be located in cell surface; postsynapse; and presynaptic active zone. [provided by Alliance of Genome Resources, Mar 2025]

centrin, EF-hand protein, 3

The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

centrin, EF-hand protein, 2

Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq, Jul 2008]

centrin, EF-hand protein, 1

The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jan 2015]

EF-hand domain family, member B

Enables calcium ion sensor activity. Involved in regulation of calcineurin-NFAT signaling cascade and regulation of store-operated calcium entry. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

centrin EF-hand protein 4, pseudogene

Centrins are members of the calcium-binding EF-hand protein superfamily and accumulate in centrosomes. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008]

cell growth regulator with EF-hand domain 1

Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of cell population proliferation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

split hand/foot malformation (ectrodactyly) type 1 pseudogene 1

grancalcin, EF-hand calcium binding protein

This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]

Split-hand/foot malformation 3

split hand/foot malformation (ectrodactyly) type 2

split hand/foot malformation (ectrodactyly) type 1

The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]

split hand/foot malformation (ectrodactyly) type 5

parvalbumin like EF-hand containing

Predicted to enable calcium ion binding activity. Predicted to be involved in skeletal muscle contraction. Predicted to be part of troponin complex. [provided by Alliance of Genome Resources, Mar 2025]