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Aliases for CACNA2D4 Gene

Aliases for CACNA2D4 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4 2 3
  • Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 4 2 3 5
  • Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-4 3 4
  • Voltage-Gated Calcium Channel Alpha(2)Delta-4 Subunit 3
  • RCD4 3

External Ids for CACNA2D4 Gene

Previous GeneCards Identifiers for CACNA2D4 Gene

  • GC12M001787
  • GC12M001773
  • GC12M001901

Summaries for CACNA2D4 Gene

Entrez Gene Summary for CACNA2D4 Gene

  • This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of 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 of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for CACNA2D4 Gene

CACNA2D4 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4) is a Protein Coding gene. Diseases associated with CACNA2D4 include retinal cone dystrophy 4 and retinitis pigmentosa. Among its related pathways are Cardiac conduction and Integrin Pathway. GO annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACHD1.

UniProtKB/Swiss-Prot for CACNA2D4 Gene

  • The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA2D4 Gene

Genomics for CACNA2D4 Gene

Regulatory Elements for CACNA2D4 Gene

Genomic Location for CACNA2D4 Gene

1,791,957 bp from pter
1,920,865 bp from pter
128,909 bases
Minus strand

Genomic View for CACNA2D4 Gene

Genes around CACNA2D4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA2D4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA2D4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA2D4 Gene

Proteins for CACNA2D4 Gene

  • Protein details for CACNA2D4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Voltage-dependent calcium channel subunit alpha-2/delta-4
    Protein Accession:
    Secondary Accessions:
    • Q7Z3S8
    • Q86XZ5
    • Q8IZS9

    Protein attributes for CACNA2D4 Gene

    1137 amino acids
    Molecular mass:
    127938 Da
    Quaternary structure:
    • Dimer formed of alpha-2-2 and delta-2 chains; disulfide-linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio (Probable). Interacts with CACNA1C and CACNB3.
    • In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug.
    • Sequence=AAH48288.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAN06672.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNA2D4 Gene

neXtProt entry for CACNA2D4 Gene

Proteomics data for CACNA2D4 Gene at MOPED

Post-translational modifications for CACNA2D4 Gene

  • May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity).
  • Glycosylation at Asn 201 and Asn 664
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA2D4 Gene

Domains & Families for CACNA2D4 Gene

Gene Families for CACNA2D4 Gene

Protein Domains for CACNA2D4 Gene


Graphical View of Domain Structure for InterPro Entry



  • The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.
  • Belongs to the calcium channel subunit alpha-2/delta family.
  • The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.
  • Contains 1 cache domain.
  • Contains 1 VWFA domain.
  • Belongs to the calcium channel subunit alpha-2/delta family.
genes like me logo Genes that share domains with CACNA2D4: view

Function for CACNA2D4 Gene

Molecular function for CACNA2D4 Gene

UniProtKB/Swiss-Prot Function:
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.
genes like me logo Genes that share phenotypes with CACNA2D4: view

Human Phenotype Ontology for CACNA2D4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CACNA2D4 Gene

miRTarBase miRNAs that target CACNA2D4

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CACNA2D4 Gene

Localization for CACNA2D4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA2D4 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for CACNA2D4 Gene COMPARTMENTS Subcellular localization image for CACNA2D4 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for CACNA2D4 Gene

Pathways & Interactions for CACNA2D4 Gene

genes like me logo Genes that share pathways with CACNA2D4: view

Interacting Proteins for CACNA2D4 Gene

Gene Ontology (GO) - Biological Process for CACNA2D4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061337 cardiac conduction TAS --
GO:0070588 calcium ion transmembrane transport IDA 12181424
genes like me logo Genes that share ontologies with CACNA2D4: view

No data available for SIGNOR curated interactions for CACNA2D4 Gene

Drugs & Compounds for CACNA2D4 Gene

(1) Drugs for CACNA2D4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CACNA2D4: view

Transcripts for CACNA2D4 Gene

Unigene Clusters for CACNA2D4 Gene

Calcium channel, voltage-dependent, alpha 2/delta subunit 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA2D4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^

ExUns: 27a · 27b · 27c ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b · 34c ^ 35a · 35b · 35c · 35d ^ 36 ^ 37a · 37b · 37c ^ 38a · 38b
SP1: - - - - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: -

Relevant External Links for CACNA2D4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CACNA2D4 Gene

mRNA expression in normal human tissues for CACNA2D4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA2D4 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for CACNA2D4 Gene

This gene is overexpressed in Retina (60.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA2D4 Gene

SOURCE GeneReport for Unigene cluster for CACNA2D4 Gene Hs.13768

mRNA Expression by UniProt/SwissProt for CACNA2D4 Gene

Tissue specificity: Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the adrenal gland and in the basophils of the pituitary. Present at low level in some brain regions such as the cerebellum (at protein level).
genes like me logo Genes that share expression patterns with CACNA2D4: view

Protein tissue co-expression partners for CACNA2D4 Gene

Primer Products

In Situ Assay Products

Orthologs for CACNA2D4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA2D4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CACNA2D4 35
  • 85.27 (n)
  • 85.93 (a)
  • 85 (a)
(Canis familiaris)
Mammalia CACNA2D4 35
  • 87.39 (n)
  • 87.33 (a)
(Mus musculus)
Mammalia Cacna2d4 35
  • 82.76 (n)
  • 84.18 (a)
Cacna2d4 16
Cacna2d4 36
  • 83 (a)
(Pan troglodytes)
Mammalia CACNA2D4 35
  • 99.15 (n)
  • 98.94 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Cacna2d4 35
  • 83.23 (n)
  • 83.94 (a)
(Monodelphis domestica)
Mammalia CACNA2D4 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia CACNA2D4 36
  • 79 (a)
(Gallus gallus)
Aves CACNA2D4 35
  • 77.17 (n)
  • 80.23 (a)
  • 78 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 67 (a)
-- 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna2d4 35
  • 74.85 (n)
  • 79.03 (a)
(Danio rerio)
Actinopterygii cacna2d4a 35
  • 64.29 (n)
  • 64.99 (a)
cacna2d4a 36
  • 63 (a)
cacna2d4b 36
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009598 35
  • 48.13 (n)
  • 37.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4587 35
  • 47.25 (n)
  • 34.74 (a)
CG42817 36
  • 31 (a)
CG4587 36
  • 29 (a)
stj 36
  • 31 (a)
(Caenorhabditis elegans)
Secernentea unc-36 36
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
-- 36
  • 38 (a)
Species with no ortholog for CACNA2D4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNA2D4 Gene

Gene Tree for CACNA2D4 (if available)
Gene Tree for CACNA2D4 (if available)

Paralogs for CACNA2D4 Gene

Paralogs for CACNA2D4 Gene

(3) SIMAP similar genes for CACNA2D4 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CACNA2D4: view

Variants for CACNA2D4 Gene

Sequence variations from dbSNP and Humsavar for CACNA2D4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10735005 - 1,886,237(+) ATTAA(C/G/T)GAAGT nc-transcript-variant, reference, missense
VAR_035050 -
VAR_035051 -
rs13219 -- 1,792,268(-) TGAGG(A/G)CAGTA utr-variant-3-prime
rs725652 -- 1,885,406(+) AGCCC(A/G)CAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA2D4 Gene

Variant ID Type Subtype PubMed ID
nsv832305 CNV Gain 17160897
nsv832306 CNV Loss 17160897
nsv898592 CNV Loss 21882294
nsv898593 CNV Loss 21882294
dgv175n27 CNV Loss 19166990
nsv470259 CNV Loss 18288195
nsv518013 CNV Loss 19592680
nsv898594 CNV Loss 21882294
dgv1341n71 CNV Loss 21882294
esv2745399 CNV Deletion 23290073
esv2664626 CNV Deletion 23128226
nsv524974 CNV Loss 19592680
nsv523186 CNV Loss 19592680
nsv898598 CNV Gain 21882294
nsv898599 CNV Loss 21882294
nsv516798 CNV Loss 19592680
esv2745400 CNV Deletion 23290073
esv2745401 CNV Deletion 23290073
esv2669081 CNV Deletion 23128226
nsv518786 CNV Gain 19592680
nsv516230 CNV Loss 19592680
esv2745402 CNV Deletion 23290073
esv3953 CNV Deletion 18987735
esv2741800 CNV Deletion 23290073
esv2745403 CNV Deletion 23290073
esv994355 CNV Deletion 20482838
esv2678723 CNV Deletion 23128226
nsv53217 CNV Loss 16902084
esv1036258 CNV Deletion 17803354
nsv898600 CNV Loss 21882294

Variation tolerance for CACNA2D4 Gene

Residual Variation Intolerance Score: 23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.23; 70.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA2D4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA2D4 Gene

Disorders for CACNA2D4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CACNA2D4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal cone dystrophy 4
  • rcd4
retinitis pigmentosa
  • retinitis pigmentosa 1
cone dystrophy 4
  • cod4
cone dystrophy
  • retinal cone dystrophy
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards


  • Retinal cone dystrophy 4 (RCD4) [MIM:610478]: Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. {ECO:0000269 PubMed:17033974}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CACNA2D4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CACNA2D4: view

No data available for Genatlas for CACNA2D4 Gene

Publications for CACNA2D4 Gene

  1. Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit. (PMID: 12181424) Qin N. … D'Andrea M.R. (Mol. Pharmacol. 2002) 2 3 4 67
  2. Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. (PMID: 25189868) Sung Y.J. … Rao D.C. (Am. J. Hypertens. 2015) 3
  3. A genome-wide association study of behavioral disinhibition. (PMID: 23942779) McGue M. … Iacono W.G. (Behav. Genet. 2013) 3
  4. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. (PMID: 24324551) Deng X. … Seielstad M. (PLoS ONE 2013) 3
  5. Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. (PMID: 22488967) Van Den Bossche M.J. … Del-Favero J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012) 3

Products for CACNA2D4 Gene

Sources for CACNA2D4 Gene

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