Harmonizome 3.0

linker for activation ong>ofong> T cells family, member 2

This gene is one ong>ofong> the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists ong>ofong> at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]

ORAI calcium release-activated calcium modulator 2

Enables store-operated calcium channel activity. Involved in store-operated calcium entry. Located in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

ORAI calcium release-activated calcium modulator 3

Enables store-operated calcium channel activity. Involved in store-operated calcium entry. Located in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

ORAI calcium release-activated calcium modulator 1

The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type ong>ofong> channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause ong>ofong> immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]

calcium/calmodulin-dependent protein kinase kinase 2, beta

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

calcium/calmodulin-dependent protein kinase kinase 1, alpha

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

reticulocalbin 1, EF-hand calcium binding domain pseudogene 1

phospholipase A2, group VI (cytosolic, calcium-independent)

The protein encoded by this gene is an A2 phospholipase, a class ong>ofong> enzyme that catalyzes the release ong>ofong> fatty acids from phospholipids. The encoded protein may play a ong>roleong> in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isong>ofong>orms have been described, but the full-length nature ong>ofong> only three ong>ofong> them have been determined to date. [provided by RefSeq, Dec 2010]

EF-hand calcium binding domain 11

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

EF-hand calcium binding domain 10

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

calcium binding and coiled-coil domain 1

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; beta-catenin binding activity; and nuclear receptor coactivator activity. Involved in positive regulation ong>ofong> DNA-templated transcription and positive regulation ong>ofong> gene expression. Located in cytosol and nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium binding and coiled-coil domain 2

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important ong>roleong> in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isong>ofong>orms have been observed for this gene. [provided by RefSeq, May 2012]

calcium binding protein 39

Enables kinase binding activity and protein serine/threonine kinase activator activity. Involved in intracellular signal transduction; peptidyl-serine phosphorylation; and positive regulation ong>ofong> protein phosphorylation. Located in extracellular exosome. Part ong>ofong> cytoplasm and serine/threonine protein kinase complex. Implicated in hepatocellular carcinoma. Biomarker ong>ofong> hepatocellular carcinoma and pancreatic cancer. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium modulating ligand

The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream ong>ofong> the TCR and upstream ong>ofong> calcineurin by causing an influx ong>ofong> calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence ong>ofong> cyclosporin. [provided by RefSeq, Jul 2008]

calcium regulated heat stable protein 1, 24kDa

Enables mRNA 3'-UTR binding activity. Predicted to be involved in regulation ong>ofong> mRNA stability. Predicted to be located in P granule; cytoplasmic exosome (RNase complex); and cytosol. Predicted to be active in cytoplasm. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

reticulocalbin 1, EF-hand calcium binding domain pseudogene 2

calcium homeostasis endoplasmic reticulum protein

Enables transmembrane transporter binding activity. Involved in positive regulation ong>ofong> calcineurin-NFAT signaling cascade and release ong>ofong> sequestered calcium ion into cytosol. Acts upstream ong>ofong> or within intracellular calcium ion homeostasis and negative regulation ong>ofong> cell population proliferation. Located in perinuclear region ong>ofong> cytoplasm. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

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

The protein encoded by this gene is part ong>ofong> 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 ong>ofong> 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 ong>ofong> 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 prong>ofong>ound consequences for the firing pattern ong>ofong> the neuron. Each component ong>ofong> the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family ong>ofong> 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 ong>ofong> synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion ong>ofong> one or both ong>ofong> 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 isong>ofong>orms 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 prong>ofong>ound consequences for the firing pattern ong>ofong> the neuron. Each component ong>ofong> 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 ong>ofong> synaptic AHP. This gene is a member ong>ofong> the KCNN family ong>ofong> 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 ong>ofong> 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 prong>ofong>ound consequences for the firing pattern ong>ofong> the neuron. Each component ong>ofong> 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 ong>ofong> 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 ong>ofong> the KCNN family ong>ofong> potassium channel genes. [provided by RefSeq, Jul 2008]

RAS guanyl releasing protein 2 (calcium and DAG-regulated)

The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats ong>ofong> EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity ong>ofong> this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jan 2016]

RAS guanyl releasing protein 3 (calcium and DAG-regulated)

The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017]

RAS guanyl releasing protein 1 (calcium and DAG-regulated)

This gene is a member ong>ofong> a family ong>ofong> genes characterized by the presence ong>ofong> a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange ong>ofong> bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isong>ofong>orms have been identified. Altered expression ong>ofong> the different isong>ofong>orms ong>ofong> this protein may be a cause ong>ofong> susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

C2 calcium-dependent domain containing 4A

Involved in positive regulation ong>ofong> acute inflammatory response; regulation ong>ofong> cell adhesion; and regulation ong>ofong> vascular permeability involved in acute inflammatory response. Located in nucleolus and nucleoplasm. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

C2 calcium-dependent domain containing 4B

Involved in positive regulation ong>ofong> acute inflammatory response; regulation ong>ofong> cell adhesion; and regulation ong>ofong> vascular permeability involved in acute inflammatory response. Predicted to be located in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

C2 calcium-dependent domain containing 4C

Predicted to be active in cytosol. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

C2 calcium-dependent domain containing 4D

calcium homeostasis modulator 1

This gene encodes a calcium channel that plays a ong>roleong> in processing ong>ofong> amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity ong>ofong> this polymorphism is unclear.[provided by RefSeq, Mar 2010]

calcium homeostasis modulator 3

Predicted to enable monoatomic cation channel activity and voltage-gated monoatomic ion channel activity. Predicted to be involved in ATP transport; protein heterooligomerization; and sensory perception ong>ofong> taste. Predicted to be located in basolateral plasma membrane. Predicted to be active in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium homeostasis modulator 2

Predicted to enable monoatomic cation channel activity. Involved in ATP export and positive regulation ong>ofong> apoptotic process. Predicted to be active in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 1

calcium/calmodulin-dependent protein kinase II delta

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

calcium/calmodulin-dependent protein kinase II gamma

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

calcium/calmodulin-dependent protein kinase II alpha

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

calcium/calmodulin-dependent protein kinase II beta

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

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 ong>ofong> Genome Resources, Mar 2025]

S100 calcium binding protein Z

Members ong>ofong> the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]

S100 calcium binding protein A7 pseudogene 1

S100 calcium binding protein A7 pseudogene 2

S100 calcium binding protein A11

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression ong>ofong> this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008]

S100 calcium binding protein A10

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]

S100 calcium binding protein A13

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types ong>ofong> tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

S100 calcium binding protein A12

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]

S100 calcium binding protein A14

This gene encodes a member ong>ofong> the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster ong>ofong> S100 genes on chromosome 1. Levels ong>ofong> the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]

S100 calcium binding protein A16

Enables calcium ion binding activity and protein homodimerization activity. Predicted to act upstream ong>ofong> or within response to calcium ion. Located in several cellular components, including cytosol; extracellular space; and nucleolus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium channel, voltage-dependent, alpha 2/delta subunit 1

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits ong>ofong> the voltage-dependent calcium channel complex. Calcium channels mediate the influx ong>ofong> calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some ong>ofong> which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]

potassium channel, calcium activated large conductance subfamily M alpha, member 1

This gene encodes the alpha subunit ong>ofong> calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum ong>ofong> neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]

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 ong>ofong> Genome Resources, Mar 2025]

EF-hand calcium binding domain 5

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

EF-hand calcium binding domain 7

Predicted to enable calcium ion binding activity. Predicted to be involved in positive regulation ong>ofong> protein import into nucleus; positive regulation ong>ofong> protein localization to ciliary membrane; and positive regulation ong>ofong> transcription by RNA polymerase II. Predicted to be located in cytoplasmic side ong>ofong> plasma membrane. Predicted to be part ong>ofong> plasma membrane protein complex. Predicted to be active in ciliary membrane. [provided by Alliance ong>ofong> 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 ong>ofong> androgen receptor. This protein may also play a ong>roleong> in spermatogenesis and fertilization. Multiple transcript variants encoding different isong>ofong>orms 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 ong>ofong> flagellated sperm motility. Predicted to be located in cilium. Implicated in primary ciliary dyskinesia. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

EF-hand calcium binding domain 3

Predicted to enable calcium ion binding activity. [provided by Alliance ong>ofong> 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]

calcium binding protein 7

Predicted to enable calcium ion binding activity. Located in trans-Golgi network membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium binding protein 5

The product ong>ofong> this gene belongs to a subfamily ong>ofong> calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component ong>ofong> calcium mediated cellular signal transduction. Expression ong>ofong> this gene is retina-specific. The mouse homolog ong>ofong> this protein has been shown to express in the inner nuclear layer ong>ofong> the retina, suggested its ong>roleong> in neuronal functioning. The specific function ong>ofong> this gene is unknown. [provided by RefSeq, Oct 2009]

calcium binding protein 2

This gene belongs to a subfamily ong>ofong> calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component ong>ofong> calcium mediated cellular signal transduction. Two transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jan 2016]

calcium binding protein 1

Calcium binding proteins are an important component ong>ofong> calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily ong>ofong> calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating ong>ofong> voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation ong>ofong> ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity ong>ofong> inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isong>ofong>orms. [provided by RefSeq, Jul 2012]

phospholipase A2, group IVC (cytosolic, calcium-independent)

This gene encodes a protein which is a member ong>ofong> the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both ong>ofong> which serve as precursors in the production ong>ofong> signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Apr 2009]

phospholipase A2, group IVA (cytosolic, calcium-dependent)

This gene encodes a member ong>ofong> the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis ong>ofong> membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

S100 calcium binding protein A11 pseudogene 4

S100 calcium binding protein A11 pseudogene 2

S100 calcium binding protein A11 pseudogene 3

S100 calcium binding protein A11 pseudogene 1

solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023]

solute carrier family 24 (sodium/potassium/calcium exchanger), member 5

This gene is a member ong>ofong> the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets ong>ofong> multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]

solute carrier family 24 (sodium/potassium/calcium exchanger), member 2

This gene encodes a member ong>ofong> the calcium/cation antiporter superfamily ong>ofong> transport proteins. The encoded protein belongs to the SLC24 branch ong>ofong> exchangers, which can mediate the extrusion ong>ofong> one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective ong>roleong> during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

solute carrier family 24 (sodium/potassium/calcium exchanger), member 3

Plasma membrane sodium/calcium exchangers are an important component ong>ofong> intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]

solute carrier family 24 (sodium/potassium/calcium exchanger), member 1

This gene encodes a member ong>ofong> the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important ong>roleong> in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion ong>ofong> one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a ong>roleong> in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isong>ofong>orms have been observed for this gene. [provided by RefSeq, Dec 2011]

calcium channel flower domain containing 1

Predicted to be involved in vesicle-mediated transport. Predicted to be located in several cellular components, including Golgi apparatus; cytoplasmic vesicle; and endoplasmic reticulum membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

protein phosphatase, EF-hand calcium binding domain 2

This gene encodes a member ong>ofong> 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 ong>roleong> 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 ong>ofong> 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 ong>roleong> 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 isong>ofong>orm, have been described. [provided by RefSeq, Jul 2008]

calcium binding protein P22 pseudogene

solute carrier family 8 (sodium/calcium exchanger), member 1

In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release ong>ofong> Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading ong>ofong> intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key ong>roleong> in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]

solute carrier family 8 (sodium/calcium exchanger), member 3

This gene encodes a member ong>ofong> the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety ong>ofong> cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange ong>ofong> Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]

solute carrier family 8 (sodium/calcium exchanger), member 2

Predicted to enable calcium:monoatomic cation antiporter activity involved in regulation ong>ofong> postsynaptic cytosolic calcium ion concentration and calcium:sodium antiporter activity. Predicted to be involved in several processes, including learning or memory; monoatomic cation transmembrane transport; and regulation ong>ofong> short-term neuronal synaptic plasticity. Predicted to act upstream ong>ofong> or within several processes, including modulation ong>ofong> chemical synaptic transmission; regulation ong>ofong> action potential firing pattern; and response to ischemia. Located in presynapse. Biomarker ong>ofong> Alzheimer's disease. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium channel, voltage-dependent, alpha 2/delta subunit 2

Calcium channels mediate the entry ong>ofong> calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit ong>ofong> the voltage-dependent calcium channel complex. The complex consists ong>ofong> the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization ong>ofong> the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isong>ofong>orms. [provided by RefSeq, Mar 2014]

calcium channel, voltage-dependent, alpha 2/delta subunit 3

This gene encodes a member ong>ofong> the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx ong>ofong> calcium ions into the cell upon membrane polarization and consist ong>ofong> a complex ong>ofong> alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions ong>ofong> each ong>ofong> these subunits exist, either expressed from similar genes or the result ong>ofong> alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants ong>ofong> this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

calcium channel, voltage-dependent, alpha 2/delta subunit 4

This gene encodes a member ong>ofong> the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx ong>ofong> calcium ions into the cell upon membrane polarization and consist ong>ofong> a complex ong>ofong> alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions ong>ofong> each ong>ofong> these subunits exist, either expressed from similar genes or the result ong>ofong> alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants ong>ofong> this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

calcium and integrin binding family member 2

The protein encoded by this gene is similar to that ong>ofong> KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

calcium and integrin binding family member 3

This gene product shares a high degree ong>ofong> sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit ong>ofong> DNA-dependent protein kinases. The exact function ong>ofong> this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

calcium and integrin binding 1 (calmyrin)

This gene encodes a member ong>ofong> the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

calcium and integrin binding family member 4

Enables calcium ion binding activity and magnesium ion binding activity. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

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

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

calcium-sensing receptor

The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential ong>roleong> in maintaining mineral ion homeostasis. Mutations in this gene are a cause ong>ofong> familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]

calcium/calmodulin-dependent protein kinase II inhibitor 2

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

calcium/calmodulin-dependent protein kinase II inhibitor 1

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

calcium channel, voltage-dependent, gamma subunit 8

The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating ong>ofong> the AMPA receptors. This gene is part ong>ofong> a functionally diverse eight-member protein subfamily ong>ofong> the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]

calcium channel, voltage-dependent, gamma subunit 3

The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating ong>ofong> the AMPA receptors. This gene is part ong>ofong> a functionally diverse eight-member protein subfamily ong>ofong> the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]

calcium channel, voltage-dependent, gamma subunit 6

Voltage-dependent calcium channels are composed ong>ofong> five subunits. The protein encoded by this gene represents one ong>ofong> these subunits, gamma, and is one ong>ofong> two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part ong>ofong> a functionally diverse eight-member protein subfamily ong>ofong> the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]

calcium channel, voltage-dependent, gamma subunit 7

The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating ong>ofong> the AMPA receptors. This gene is part ong>ofong> a functionally diverse eight-member protein subfamily ong>ofong> the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]

mitochondrial calcium uptake family, member 3

Enables calcium channel regulator activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion and cellular response to calcium ion. Located in mitochondrion. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

mitochondrial calcium uptake 2

Enables several functions, including calcium channel regulator activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion; cellular response to calcium ion; and negative regulation ong>ofong> mitochondrial calcium ion concentration. Located in mitochondrial intermembrane space. Part ong>ofong> uniplex complex. Is active in mitochondrial inner membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

mitochondrial calcium uptake 1

This gene encodes an essential regulator ong>ofong> mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production ong>ofong> reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isong>ofong>orms have been described. [provided by RefSeq, Mar 2013]

reticulocalbin 3, EF-hand calcium binding domain

Enables calcium ion binding activity. Involved in several processes, including collagen biosynthetic process; positive regulation ong>ofong> peptidase activity; and regulation ong>ofong> phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in endoplasmic reticulum. [provided by Alliance ong>ofong> 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 ong>ofong> 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 ong>roleong> for this gene in the disorder. Alternatively spliced transcript variants encoding different isong>ofong>orms 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 ong>ofong> the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation ong>ofong> amino acid residues outside ong>ofong> these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that ong>ofong> calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]

neuronal calcium sensor 1

This gene is a member ong>ofong> the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

histidine rich calcium binding protein

This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain ong>ofong> triadin, the main transmembrane protein ong>ofong> the junctional sarcoplasmic reticulum (SR) ong>ofong> skeletal muscle. The protein functions in the regulation ong>ofong> releasable calcium into the SR. [provided by RefSeq, Sep 2008]

calcium/calmodulin-dependent protein kinase IG

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

calcium binding protein 39-like

Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in cytosol. Predicted to be part ong>ofong> cytoplasm and serine/threonine protein kinase complex. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

S100 calcium binding protein A7A

Enables identical protein binding activity. Predicted to act upstream ong>ofong> or within inflammatory response. Located in cytosol. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

S100 calcium binding protein A9

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition ong>ofong> casein kinase and altered expression ong>ofong> this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]

S100 calcium binding protein A8

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition ong>ofong> casein kinase and as a cytokine. Altered expression ong>ofong> this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jan 2016]

S100 calcium binding protein A5

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding ong>ofong> Ca2+. This protein is expressed in very restricted regions ong>ofong> the adult brain. [provided by RefSeq, Jul 2008]

S100 calcium binding protein A4

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression ong>ofong> this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

S100 calcium binding protein A7

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins ong>ofong> known structure in its lack ong>ofong> calcium binding ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities against bacteria and induces immunomodulatory activities. [provided by RefSeq, Nov 2014]

S100 calcium binding protein A6

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation ong>ofong> Ca2+-dependent insulin release, stimulation ong>ofong> prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression ong>ofong> this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]

S100 calcium binding protein A1

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation ong>ofong> Ca2+-induced Ca2+ release, inhibition ong>ofong> microtubule assembly, and inhibition ong>ofong> protein kinase C-mediated phosphorylation. Reduced expression ong>ofong> this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]

S100 calcium binding protein A3

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content ong>ofong> cysteines ong>ofong> all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function ong>ofong> this protein is unknown. [provided by RefSeq, Jul 2008]

S100 calcium binding protein A2

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression ong>ofong> this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008]

mitochondrial calcium uniporter

Enables calcium channel activity; identical protein binding activity; and uniporter activity. Involved in several processes, including cellular response to calcium ion starvation; positive regulation ong>ofong> mitochondrial calcium ion concentration; and positive regulation ong>ofong> mitochondrial fission. Located in mitochondrion. Part ong>ofong> uniplex complex. Is active in mitochondrial inner membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

mitochondrial calcium uniporter regulator 1 pseudogene

calcium activated nucleotidase 1

This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]

calcium/calmodulin-dependent protein kinase ID

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

calcium channel, voltage-dependent, beta 3 subunit

This gene encodes a regulatory beta subunit ong>ofong> the voltage-dependent calcium channel. Beta subunits are composed ong>ofong> five domains, which contribute to the regulation ong>ofong> surface expression and gating ong>ofong> calcium channels and may also play a ong>roleong> in the regulation ong>ofong> transcription factors and calcium transport. [provided by RefSeq, Oct 2011]

calcium channel, voltage-dependent, beta 2 subunit

This gene encodes a subunit ong>ofong> a voltage-dependent calcium channel protein that is a member ong>ofong> the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isong>ofong>orms have been described. [provided by RefSeq, Feb 2013]

calcium channel, voltage-dependent, beta 1 subunit

The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important ong>roleong> in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence ong>ofong> activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isong>ofong>orms have been identified. [provided by RefSeq, Jul 2008]

calcium channel, voltage-dependent, beta 4 subunit

This gene encodes a member ong>ofong> the beta subunit family ong>ofong> voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx ong>ofong> calcium ions into the cell upon membrane polarization and consist ong>ofong> a complex ong>ofong> alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions ong>ofong> each ong>ofong> these subunits exist, either expressed from similar genes or the result ong>ofong> alternative splicing. The protein encoded by this locus plays an important ong>roleong> in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence ong>ofong> activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]

calcium channel, voltage-dependent, gamma subunit 1

Voltage-dependent calcium channels are composed ong>ofong> five subunits. The protein encoded by this gene represents one ong>ofong> these subunits, gamma, and is one ong>ofong> two known gamma subunit proteins. This particular gamma subunit is part ong>ofong> skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a ong>roleong> in excitation-contraction coupling. This gene is part ong>ofong> a functionally diverse eight-member protein subfamily ong>ofong> the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]

calcium activated nucleotidase 1 pseudogene

calcium channel, voltage-dependent, T type, alpha 1H subunit

This gene encodes a T-type member ong>ofong> the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx ong>ofong> calcium ions into the cell upon membrane polarization and consist ong>ofong> a complex ong>ofong> alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isong>ofong>orms ong>ofong> each ong>ofong> the proteins in the complex, either encoded by different genes or the result ong>ofong> alternative splicing ong>ofong> transcripts. Alternate transcriptional splice variants, encoding different isong>ofong>orms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

calcium channel, voltage-dependent, T type, alpha 1I subunit

This gene encodes the pore-forming alpha subunit ong>ofong> a voltage gated calcium channel. The encoded protein is a member ong>ofong> a subfamily ong>ofong> calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

Voltage-dependent calcium channels mediate the entry ong>ofong> calcium ions into excitable cells, and are also involved in a variety ong>ofong> calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed ong>ofong> alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties ong>ofong> the calcium channel types are related primarily to the expression ong>ofong> a variety ong>ofong> alpha-1 isong>ofong>orms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isong>ofong>orms have been found for this gene. In one set ong>ofong> transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set ong>ofong> variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion ong>ofong> the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]

calcium channel, voltage-dependent, N type, alpha 1B subunit

The protein encoded by this gene is the pore-forming subunit ong>ofong> an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Aug 2011]

calcium channel, voltage-dependent, L type, alpha 1C subunit

This gene encodes an alpha-1 subunit ong>ofong> a voltage-dependent calcium channel. Calcium channels mediate the influx ong>ofong> calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists ong>ofong> 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists ong>ofong> a complex ong>ofong> alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isong>ofong>orms ong>ofong> each ong>ofong> these proteins, either encoded by different genes or the result ong>ofong> alternative splicing ong>ofong> transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some ong>ofong> the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

calcium channel, voltage-dependent, L type, alpha 1D subunit

Voltage-dependent calcium channels mediate the entry ong>ofong> calcium ions into excitable cells, and are also involved in a variety ong>ofong> calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed ong>ofong> alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties ong>ofong> the calcium channel types are related primarily to the expression ong>ofong> a variety ong>ofong> alpha-1 isong>ofong>orms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Dec 2012]

calcium channel, voltage-dependent, R type, alpha 1E subunit

Voltage-dependent calcium channels are multisubunit complexes consisting ong>ofong> alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry ong>ofong> calcium ions into excitable cells, and are also involved in a variety ong>ofong> calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit ong>ofong> the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation ong>ofong> firing patterns ong>ofong> neurons important for information processing. Alternatively spliced transcript variants encoding different isong>ofong>orms have been described for this gene. [provided by RefSeq, Apr 2011]

calcium channel, voltage-dependent, L type, alpha 1F subunit

This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit ong>ofong> the voltage-dependent calcium channel, which mediates the influx ong>ofong> calcium ions into the cell. The encoded protein forms a complex ong>ofong> alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isong>ofong>orms have been observed. [provided by RefSeq, Aug 2013]

calcium channel, voltage-dependent, gamma subunit 5

The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating ong>ofong> the AMPA receptors. This gene is part ong>ofong> a functionally diverse eight-member protein subfamily ong>ofong> the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]

collagen and calcium binding EGF domains 1

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its ong>roleong> as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

calcium-binding protein, spermatid-specific 1

Predicted to enable calcium ion binding activity. Predicted to be involved in flagellated sperm motility and spermatogenesis. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be active in mitochondrial inner membrane and motile cilium. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium binding protein 4

This gene encodes a member ong>ofong> the CABP family ong>ofong> calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2014]

calcium-binding mitochondrial carrier protein SCaMC-1-like

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 ong>ofong> the neuron-specific X11-like protein (X11L), inhibits the association ong>ofong> X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression ong>ofong> beta-amyloid production by X11L. This protein, together with X11L, may play an important ong>roleong> in the regulatory system ong>ofong> 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 isong>ofong>orms 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 ong>ofong> 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 ong>ofong> amyloid precursor protein biosynthetic process. Predicted to act upstream ong>ofong> or within blastocyst hatching. Located in cytosol and nucleoplasm. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

store-operated calcium entry-associated regulatory factor

Involved in regulation ong>ofong> store-operated calcium entry. Located in endoplasmic reticulum membrane and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium channel, voltage-dependent, L type, alpha 1C subunit pseudogene

calcium/calmodulin-dependent protein kinase I

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

calcium/calmodulin-dependent protein kinase IV

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

SPARC related modular calcium binding 2

This gene encodes a member ong>ofong> the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

SPARC related modular calcium binding 1

This gene encodes a multi-domain secreted protein that may have a critical ong>roleong> in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isong>ofong>orms have been found for this gene. [provided by RefSeq, Mar 2011]

calcium channel, voltage-dependent, T type, alpha 1G subunit

Voltage-sensitive calcium channels mediate the entry ong>ofong> calcium ions into excitable cells, and are also involved in a variety ong>ofong> calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isong>ofong>orms have been described for this gene. [provided by RefSeq, Sep 2011]

chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis)

S100 calcium binding protein A7-like 2

This locus is currently categorized as a non-transcribed pseudogene, but the locus type ong>ofong> this gene is unclear since it does contain an intact CDS. This locus lacks evidence indicating that it is transcribed, and very little ong>ofong> the upstream regions found in other family members are present at this locus. [provided by RefSeq, May 2018]

calcium channel, voltage-dependent, L type, alpha 1S subunit

This gene encodes one ong>ofong> the five subunits ong>ofong> the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]

tumor-associated calcium signal transducer 2

This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations ong>ofong> this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]

calcium release activated channel regulator 2B

Predicted to enable calcium ion binding activity. Involved in store-operated calcium entry. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium release activated channel regulator 2A

Enables GTPase activity and calcium ion binding activity. Involved in several processes, including activation ong>ofong> store-operated calcium channel activity; positive regulation ong>ofong> JNK cascade; and store-operated calcium entry. Located in several cellular components, including Golgi apparatus; Weibel-Palade body; and immunological synapse. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

S100 calcium binding protein P

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a ong>roleong> in the etiology ong>ofong> prostate cancer. [provided by RefSeq, Jul 2008]

S100 calcium binding protein G

This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family ong>ofong> calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008]

S100 calcium binding protein B

The protein encoded by this gene is a member ong>ofong> the S100 family ong>ofong> proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus ong>ofong> a wide range ong>ofong> cells, and involved in the regulation ong>ofong> a number ong>ofong> cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation ong>ofong> melanoma cells, stimulation ong>ofong> Ca2+ fluxes, inhibition ong>ofong> PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition ong>ofong> microtubule assembly. Chromosomal rearrangements and altered expression ong>ofong> this gene have been implicated in several neurological, neoplastic, and other types ong>ofong> diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008]

calcium channel, voltage-dependent, gamma subunit 2

The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating ong>ofong> the AMPA receptors. The AMPA subtype ong>ofong> ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important ong>roleong> in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form ong>ofong> cognitive disability. [provided by RefSeq, Jul 2017]

calcium channel, voltage-dependent, gamma subunit 4

The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating ong>ofong> the AMPA receptors. This gene is part ong>ofong> a functionally diverse eight-member protein subfamily ong>ofong> the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]

C2 calcium-dependent domain containing 3

This gene encodes a protein that functions as a regulator ong>ofong> centriole elongation. Studies ong>ofong> the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment ong>ofong> other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orong>ofong>aciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations ong>ofong> the oral cavity, face and digits. Alternative splicing ong>ofong> this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]

C2 calcium-dependent domain containing 2

Located in cytosol and nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

C2 calcium-dependent domain containing 5

Enables calcium ion binding activity and calcium-dependent phospholipid binding activity. Involved in several processes, including insulin receptor signaling pathway; intracellular protein transmembrane transport; and positive regulation ong>ofong> protein targeting to membrane. Located in several cellular components, including centriolar satellite; cytoplasmic vesicle membrane; and ruffle membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium binding tyrosine-(Y)-phosphorylation regulated

To reach fertilization competence, spermatozoa undergo a series ong>ofong> morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece ong>ofong> the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isong>ofong>orms have been found for this gene. [provided by RefSeq, Jul 2013]

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

mitochondrial calcium uniporter regulator 1

Involved in calcium import into the mitochondrion; calcium ion import; and positive regulation ong>ofong> mitochondrial calcium ion concentration. Located in mitochondrial inner membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

grancalcin, EF-hand calcium binding protein

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

anoctamin 1, calcium activated chloride channel

Enables identical protein binding activity; iodide transmembrane transporter activity; and ligand-gated monoatomic ion channel activity. Involved in several processes, including monoatomic anion transport; mucus secretion; and positive regulation ong>ofong> insulin secretion involved in cellular response to glucose stimulus. Located in apical plasma membrane and nucleoplasm. Implicated in Moyamoya disease. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

anoctamin 2, calcium activated chloride channel

ANO2 belongs to a family ong>ofong> calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]

calcium responsive transcription factor

Enables DNA binding activity and DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in cellular response to calcium ion. Predicted to be located in granular component. Predicted to be active in nucleus. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

S100 calcium binding protein A11 pseudogene

RAS guanyl releasing protein 2 (calcium and DAG-regulated) pseudogene

solute carrier family 8 (sodium/lithium/calcium exchanger), member B1

SLC24A6 belongs to a family ong>ofong> potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport ong>ofong> 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]

mitochondrial calcium uniporter dominant negative subunit beta

Enables calcium channel inhibitor activity. Involved in negative regulation ong>ofong> calcium import into the mitochondrion. Located in mitochondrial inner membrane and nucleoplasm. Part ong>ofong> uniplex complex. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium homeostasis modulator family member 6

Predicted to enable monoatomic cation channel activity. Predicted to be involved in ATP export; monoatomic cation transmembrane transport; and regulation ong>ofong> natural killer cell cytokine production. Predicted to be located in immunological synapse. Predicted to be active in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

calcium homeostasis modulator family member 5

Predicted to enable monoatomic cation channel activity. Predicted to be involved in ATP export and monoatomic cation transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

ciliary associated calcium binding coiled-coil 1

Predicted to enable calcium ion binding activity. Predicted to act upstream ong>ofong> or within sperm flagellum assembly. Predicted to be located in centrosome; cytoplasm; and sperm flagellum. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

C2 calcium dependent domain containing 6

An autosomal recessive form ong>ofong> juvenile amyotrophic lateral sclerosis was originally mapped to a region ong>ofong> chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is ong>ofong>ten found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]

calcium homeostasis modulator family member 4

Predicted to enable monoatomic cation channel activity. Predicted to be involved in ATP export and monoatomic cation transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance ong>ofong> Genome Resources, Mar 2025]

secretory calcium-binding phosphoprotein proline-glutamine rich 1