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Aliases for CACNA2D3 Gene

Aliases for CACNA2D3 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 3 2 3 5
  • Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 3 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-3 3 4
  • Calcium Channel, Voltage-Dependent, Alpha 2/Delta 3 Subunit 3
  • Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-3 3
  • Calcium Channel Alpha2-Delta3 Subunit 3
  • HSA272268 3

External Ids for CACNA2D3 Gene

Previous GeneCards Identifiers for CACNA2D3 Gene

  • GC03P053530
  • GC03P053416
  • GC03P054012
  • GC03P054114
  • GC03P054131

Summaries for CACNA2D3 Gene

Entrez Gene Summary for CACNA2D3 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 CACNA2D3 Gene

CACNA2D3 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 3) is a Protein Coding gene. Diseases associated with CACNA2D3 include Zimmermann-Laband Syndrome and Hereditary Night Blindness. Among its related pathways are NFAT and Cardiac Hypertrophy and TCR Signaling (Qiagen). GO annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACNA2D4.

UniProtKB/Swiss-Prot for CACNA2D3 Gene

  • The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA2D3 Gene

Genomics for CACNA2D3 Gene

Regulatory Elements for CACNA2D3 Gene

Enhancers for CACNA2D3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CACNA2D3 on UCSC Golden Path with GeneCards custom track

Promoters for CACNA2D3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CACNA2D3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNA2D3 Gene

Chromosome:
3
Start:
54,122,547 bp from pter
End:
55,074,557 bp from pter
Size:
952,011 bases
Orientation:
Plus strand

Genomic View for CACNA2D3 Gene

Genes around CACNA2D3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA2D3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA2D3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA2D3 Gene

Proteins for CACNA2D3 Gene

  • Protein details for CACNA2D3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZS8-CA2D3_HUMAN
    Recommended name:
    Voltage-dependent calcium channel subunit alpha-2/delta-3
    Protein Accession:
    Q8IZS8
    Secondary Accessions:
    • B2RPL6
    • Q9NY16
    • Q9NY18

    Protein attributes for CACNA2D3 Gene

    Size:
    1091 amino acids
    Molecular mass:
    123011 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 (By similarity).
    Miscellaneous:
    • In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug.

    Alternative splice isoforms for CACNA2D3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA2D3 Gene

Post-translational modifications for CACNA2D3 Gene

  • May be proteolytically processed into subunits alpha-2-3 and delta-3 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity).
  • N-glycosylated.
  • Glycosylation at Asn 166, Asn 309, Asn 553, Asn 632, and Asn 793
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA2D3 Gene

Domains & Families for CACNA2D3 Gene

Gene Families for CACNA2D3 Gene

Protein Domains for CACNA2D3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZS8

UniProtKB/Swiss-Prot:

CA2D3_HUMAN :
  • 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.
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.
  • Contains 1 cache domain.
  • Contains 1 VWFA domain.
Family:
  • Belongs to the calcium channel subunit alpha-2/delta family.
genes like me logo Genes that share domains with CACNA2D3: view

Function for CACNA2D3 Gene

Molecular function for CACNA2D3 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. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity).

Gene Ontology (GO) - Molecular Function for CACNA2D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005246 calcium channel regulator activity IBA --
GO:0005262 calcium channel activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CACNA2D3: view
genes like me logo Genes that share phenotypes with CACNA2D3: view

Animal Models for CACNA2D3 Gene

MGI Knock Outs for CACNA2D3:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA2D3

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNA2D3 Gene

Localization for CACNA2D3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA2D3 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA2D3 Gene COMPARTMENTS Subcellular localization image for CACNA2D3 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CACNA2D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IBA --
genes like me logo Genes that share ontologies with CACNA2D3: view

Pathways & Interactions for CACNA2D3 Gene

genes like me logo Genes that share pathways with CACNA2D3: view

Gene Ontology (GO) - Biological Process for CACNA2D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051924 regulation of calcium ion transport IBA --
GO:0061337 cardiac conduction TAS --
GO:0070588 calcium ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with CACNA2D3: view

No data available for SIGNOR curated interactions for CACNA2D3 Gene

Drugs & Compounds for CACNA2D3 Gene

(4) Drugs for CACNA2D3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nilvadipine Approved Pharma Target, inhibitor Syk kinase inhibitor; inhibits Abeta production 1
Amlodipine Approved Pharma Target, inhibitor Calcium channel blocker 464
Spironolactone Approved Pharma Antagonist, Target 217
calcium Nutra 0
genes like me logo Genes that share compounds with CACNA2D3: view

Transcripts for CACNA2D3 Gene

Unigene Clusters for CACNA2D3 Gene

Calcium channel, voltage-dependent, alpha 2/delta subunit 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA2D3 Gene

No ASD Table

Relevant External Links for CACNA2D3 Gene

GeneLoc Exon Structure for
CACNA2D3
ECgene alternative splicing isoforms for
CACNA2D3

Expression for CACNA2D3 Gene

mRNA expression in normal human tissues for CACNA2D3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA2D3 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.7), Brain - Frontal Cortex (BA9) (x4.5), Brain - Putamen (basal ganglia) (x4.5), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for CACNA2D3 Gene

This gene is overexpressed in Esophagus (15.0), Gallbladder (12.1), Lung (11.6), and Rectum (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA2D3 Gene



Protein tissue co-expression partners for CACNA2D3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNA2D3 Gene:

CACNA2D3

SOURCE GeneReport for Unigene cluster for CACNA2D3 Gene:

Hs.656687

mRNA Expression by UniProt/SwissProt for CACNA2D3 Gene:

Q8IZS8-CA2D3_HUMAN
Tissue specificity: Only detected in brain. Not present in lung, testis, aorta, spleen, jejunum, ventricular muscle and kidney (at protein level). According to PubMed:11687876, it is brain-specific, while according to PubMed:11245980, it is widely expressed.
genes like me logo Genes that share expression patterns with CACNA2D3: view

Primer Products

Orthologs for CACNA2D3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA2D3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CACNA2D3 34
  • 92.88 (n)
  • 98.17 (a)
CACNA2D3 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA2D3 34
  • 92.83 (n)
  • 98.19 (a)
CACNA2D3 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna2d3 34
  • 90.01 (n)
  • 98.08 (a)
Cacna2d3 16
Cacna2d3 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CACNA2D3 34
  • 99.75 (n)
  • 99.91 (a)
CACNA2D3 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna2d3 34
  • 89.74 (n)
  • 97.79 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNA2D3 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA2D3 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA2D3 34
  • 83.1 (n)
  • 94.26 (a)
CACNA2D3 35
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA2D3 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna2d3 34
  • 76.43 (n)
  • 87.32 (a)
African clawed frog
(Xenopus laevis)
Amphibia cacna2d3-A 34
zebrafish
(Danio rerio)
Actinopterygii cacna2d3 34
  • 71.76 (n)
  • 78.08 (a)
Dr.19748 34
cacna2d3 35
  • 75 (a)
OneToMany
CACNA2D3 (1 of 2) 35
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS07108.2 36
  • 35 (a)
BG:DS07473.1 36
  • 29 (a)
CG12295 36
  • 28 (a)
stj 34
  • 47.84 (n)
  • 37.86 (a)
CG42817 35
  • 30 (a)
ManyToMany
CG4587 35
  • 28 (a)
ManyToMany
stj 35
  • 29 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005490 34
  • 47.82 (n)
  • 38.27 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-36 36
  • 26 (a)
unc-36 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
ManyToMany
-- 35
  • 42 (a)
ManyToMany
Species where no ortholog for CACNA2D3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 CACNA2D3 Gene

ENSEMBL:
Gene Tree for CACNA2D3 (if available)
TreeFam:
Gene Tree for CACNA2D3 (if available)

Paralogs for CACNA2D3 Gene

Paralogs for CACNA2D3 Gene

(3) SIMAP similar genes for CACNA2D3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CACNA2D3: view

Variants for CACNA2D3 Gene

Sequence variations from dbSNP and Humsavar for CACNA2D3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs368000 -- 55,044,680(-) atggc(C/T)agggt intron-variant
rs838017 -- 54,656,226(-) AATCA(C/T)CAGGC intron-variant
rs838022 -- 54,655,622(+) CACCT(A/G)TTTCA intron-variant
rs838029 -- 54,710,778(+) GTGTA(A/G)TGGGA intron-variant
rs838034 -- 54,687,135(+) ttttt(G/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA2D3 Gene

Variant ID Type Subtype PubMed ID
dgv284n21 CNV loss 19592680
dgv285n21 CNV loss 19592680
dgv604n27 CNV gain 19166990
esv1582956 CNV insertion 17803354
esv1625556 CNV insertion 17803354
esv2322950 CNV deletion 18987734
esv2456893 CNV insertion 19546169
esv2457570 CNV deletion 19546169
esv2606802 CNV deletion 19546169
esv2662512 CNV deletion 23128226
esv2662923 CNV deletion 23128226
esv2663971 CNV deletion 23128226
esv2678712 CNV deletion 23128226
esv2725287 CNV deletion 23290073
esv2725288 CNV deletion 23290073
esv2725289 CNV deletion 23290073
esv2725290 CNV deletion 23290073
esv2725291 CNV deletion 23290073
esv2760764 CNV loss 21179565
esv2763268 CNV loss 21179565
esv3302867 CNV tandem duplication 20981092
esv3387064 CNV insertion 20981092
esv3392246 CNV duplication 20981092
esv3561910 CNV deletion 23714750
esv3568761 CNV loss 25503493
esv3596178 CNV loss 21293372
esv3596179 CNV loss 21293372
esv3596180 CNV loss 21293372
esv3596181 CNV loss 21293372
esv3596183 CNV gain 21293372
esv3596184 CNV loss 21293372
esv3596185 CNV loss 21293372
esv3596186 CNV loss 21293372
esv3596187 CNV loss 21293372
esv3596190 CNV loss 21293372
esv3893697 CNV loss 25118596
esv3893698 CNV loss 25118596
esv993548 CNV insertion 20482838
nsv1001802 CNV loss 25217958
nsv1003621 CNV loss 25217958
nsv1006990 CNV gain 25217958
nsv1010348 CNV loss 25217958
nsv1013405 CNV gain 25217958
nsv1014157 CNV loss 25217958
nsv1014595 CNV loss 25217958
nsv1073646 CNV deletion 25765185
nsv1109516 CNV deletion 24896259
nsv1114381 CNV deletion 24896259
nsv1117337 CNV tandem duplication 24896259
nsv1125771 CNV tandem duplication 24896259
nsv1133080 OTHER inversion 24896259
nsv1139790 CNV duplication 24896259
nsv1144992 CNV deletion 24896259
nsv1153716 CNV insertion 26484159
nsv1160942 CNV deletion 26073780
nsv237564 CNV insertion 16902084
nsv3827 CNV insertion 18451855
nsv3828 CNV insertion 18451855
nsv3829 CNV insertion 18451855
nsv470594 CNV gain 18288195
nsv473990 CNV novel sequence insertion 20440878
nsv517265 CNV loss 19592680
nsv517851 CNV gain 19592680
nsv518483 CNV loss 19592680
nsv525644 CNV gain 19592680
nsv527408 CNV loss 19592680
nsv590359 CNV gain 21841781
nsv818141 CNV loss 17921354
nsv834700 CNV gain 17160897
nsv954868 CNV deletion 24416366
nsv979836 CNV duplication 23825009
nsv998970 CNV gain 25217958

Variation tolerance for CACNA2D3 Gene

Residual Variation Intolerance Score: 6.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA2D3 Gene

Human Gene Mutation Database (HGMD)
CACNA2D3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA2D3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA2D3 Gene

Disorders for CACNA2D3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CACNA2D3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
zimmermann-laband syndrome
  • laband syndrome
hereditary night blindness
  • congenital night blindness
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CACNA2D3

Genetic Association Database (GAD)
CACNA2D3
Human Genome Epidemiology (HuGE) Navigator
CACNA2D3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA2D3
genes like me logo Genes that share disorders with CACNA2D3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNA2D3 Gene

Publications for CACNA2D3 Gene

  1. Cloning a calcium channel alpha2delta-3 subunit gene from a putative tumor suppressor gene region at chromosome 3p21.1 in conventional renal cell carcinoma. (PMID: 11245980) Hanke S. … Kovacs G. (Gene 2001) 2 3 4 65
  2. 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 46 65
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 65
  4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl G.R. … Lerman C. (Arch. Gen. Psychiatry 2008) 3 46 65
  5. 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) 3 4 65

Products for CACNA2D3 Gene

Sources for CACNA2D3 Gene

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