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Aliases for CACNA2D4 Gene

Aliases for CACNA2D4 Gene

  • Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 4 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-4 3 4
  • RCD4 3 6
  • Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-4 3
  • Voltage-Gated Calcium Channel Alpha(2)Delta-4 Subunit 3

External Ids for CACNA2D4 Gene

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 Channel, Voltage-Dependent, Alpha 2/Delta Subunit 4) is a Protein Coding gene. Diseases associated with CACNA2D4 include retinal cone dystrophy 4 and cone-rod dystrophy 6. Among its related pathways are MAPK signaling pathway and ERK Signaling. GO annotations related to this gene include calcium channel activity and voltage-gated ion channel activity. An important paralog of this gene is CACNA2D1.

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

Genomic Location for CACNA2D4 Gene

Start:
1,791,957 bp from pter
End:
1,918,836 bp from pter
Size:
126,880 bases
Orientation:
Minus strand

Genomic View for CACNA2D4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNA2D4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA2D4 Gene

Regulatory Elements for CACNA2D4 Gene

Proteins for CACNA2D4 Gene

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

    Protein Symbol:
    Q7Z3S7-CA2D4_HUMAN
    Recommended name:
    Voltage-dependent calcium channel subunit alpha-2/delta-4
    Protein Accession:
    Q7Z3S7
    Secondary Accessions:
    • Q7Z3S8
    • Q86XZ5
    • Q8IZS9

    Protein attributes for CACNA2D4 Gene

    Size:
    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.
    Miscellaneous:
    • In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug
    SequenceCaution:
    • 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).
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn201 and Asn664

No data available for DME Specific Peptides for CACNA2D4 Gene

Domains for CACNA2D4 Gene

Gene Families for CACNA2D4 Gene

HGNC:
  • CACN :Calcium channel subunits

Protein Domains for CACNA2D4 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CA2D4_HUMAN
Domain:
  • 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.:
    • Q7Z3S7
  • Contains 1 cache domain.:
    • Q7Z3S7
  • Contains 1 VWFA domain.:
    • Q7Z3S7
Family:
  • Belongs to the calcium channel subunit alpha-2/delta family.:
    • Q7Z3S7
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.

Gene Ontology (GO) - Molecular Function for CACNA2D4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IDA 12181424
GO:0005246 calcium channel regulator activity IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CACNA2D4: view

Phenotypes for CACNA2D4 Gene

MGI mutant phenotypes for CACNA2D4:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CACNA2D4: view

miRNA for CACNA2D4 Gene

miRTarBase miRNAs that target CACNA2D4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for CACNA2D4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005891 voltage-gated calcium channel complex IDA 12181424
genes like me logo Genes that share ontologies with CACNA2D4: view

Pathways for CACNA2D4 Gene

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

Pathways by source for CACNA2D4 Gene

Interacting Proteins for CACNA2D4 Gene

Gene Ontology (GO) - Biological Process for CACNA2D4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0050908 detection of light stimulus involved in visual perception IMP 17033974
GO:0051924 regulation of calcium ion transport IBA --
GO:0070588 calcium ion transmembrane transport IDA 12181424
genes like me logo Genes that share ontologies with CACNA2D4: view

Compounds for CACNA2D4 Gene

(1) HMDB Compounds for CACNA2D4 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
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:

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 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

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: -
SP6:
SP7:
SP8:

Relevant External Links for CACNA2D4 Gene

GeneLoc Exon Structure for
CACNA2D4
ECgene alternative splicing isoforms for
CACNA2D4

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 (6.1).

Integrated Proteomics: protein expression 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

Q7Z3S7-CA2D4_HUMAN
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 expressions with CACNA2D4: view

Orthologs for CACNA2D4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA2D4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA2D4 36
  • 99.15 (n)
  • 98.94 (a)
CACNA2D4 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA2D4 36
  • 85.27 (n)
  • 85.93 (a)
CACNA2D4 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA2D4 36
  • 87.39 (n)
  • 87.33 (a)
mouse
(Mus musculus)
Mammalia Cacna2d4 36
  • 82.76 (n)
  • 84.18 (a)
Cacna2d4 16
Cacna2d4 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA2D4 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA2D4 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna2d4 36
  • 83.23 (n)
  • 83.94 (a)
chicken
(Gallus gallus)
Aves CACNA2D4 36
  • 77.17 (n)
  • 80.23 (a)
CACNA2D4 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 67 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna2d4 36
  • 74.85 (n)
  • 79.03 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna2d4a 36
  • 64.29 (n)
  • 64.99 (a)
cacna2d4a 37
  • 63 (a)
OneToMany
cacna2d4b 37
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009598 36
  • 48.13 (n)
  • 37.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42817 37
  • 31 (a)
ManyToMany
CG4587 36
  • 47.25 (n)
  • 34.74 (a)
CG4587 37
  • 29 (a)
ManyToMany
stj 37
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-36 37
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 23 (a)
ManyToMany
-- 37
  • 38 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for CACNA2D4 (if available)
TreeFam:
Gene Tree for CACNA2D4 (if available)

Paralogs for CACNA2D4 Gene

Paralogs for CACNA2D4 Gene

Selected 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 MAF
rs13219 -- 1,792,268(-) TGAGG(A/G)CAGTA utr-variant-3-prime, nc-transcript-variant
rs720456 -- 1,913,567(-) CTGGG(A/G)CATTG intron-variant
rs721159 -- 1,839,811(-) AAACA(A/G)TGGAT intron-variant
rs725652 -- 1,885,406(+) AGCCC(A/G)CAGCC intron-variant
rs734865 -- 1,857,677(-) TCCCT(C/T)CTGCC 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

Relevant External Links for CACNA2D4 Gene

HapMap Linkage Disequilibrium report
CACNA2D4
Human Gene Mutation Database (HGMD)
CACNA2D4

Disorders for CACNA2D4 Gene

(1) OMIM Diseases for CACNA2D4 Gene (608171)

UniProtKB/Swiss-Prot

CA2D4_HUMAN
  • Retinal cone dystrophy 4 (RCD4) [MIM:610478]: Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CACNA2D4 Gene

Relevant External Links for CACNA2D4

Genetic Association Database (GAD)
CACNA2D4
Human Genome Epidemiology (HuGE) Navigator
CACNA2D4
genes like me logo Genes that share disorders with CACNA2D4: view

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
  2. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. (PMID: 17033974) Wycisk K.A. … Berger W. (Am. J. Hum. Genet. 2006) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  4. 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
  5. A genome-wide association study of behavioral disinhibition. (PMID: 23942779) McGue M. … Iacono W.G. (Behav. Genet. 2013) 3

Products for CACNA2D4 Gene

Sources for CACNA2D4 Gene

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