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Aliases for CACNA2D3 Gene

Aliases for CACNA2D3 Gene

  • 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 Channel, Voltage-Dependent, Alpha 2/Delta Subunit 3) is a Protein Coding gene. Diseases associated with CACNA2D3 include zimmermann-laband syndrome and hereditary night blindness. Among its related pathways are MAPK signaling pathway and ERK Signaling. GO annotations related to this gene include voltage-gated calcium channel 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CACNA2D3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CACNA2D3 Gene at MOPED

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 Asn166, Asn309, Asn553, Asn632, and Asn793
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA2D3 Gene

No data available for DME Specific Peptides for CACNA2D3 Gene

Domains for CACNA2D3 Gene

Gene Families for CACNA2D3 Gene

HGNC:
  • CACN :Calcium channel subunits

Protein Domains for CACNA2D3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZS8

UniProtKB/Swiss-Prot:

CA2D3_HUMAN :
  • Q8IZS8
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:0005245 voltage-gated calcium channel activity IEA --
GO:0005246 calcium channel regulator activity IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CACNA2D3: view

Phenotypes for CACNA2D3 Gene

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

Animal Models for CACNA2D3 Gene

MGI Knock Outs for CACNA2D3:

Animal Model Products

CRISPR Products

miRNA for CACNA2D3 Gene

miRTarBase miRNAs that target CACNA2D3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
extracellular 2
plasma membrane 2
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CACNA2D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005891 voltage-gated calcium channel complex IBA --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with CACNA2D3: view

Pathways for CACNA2D3 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CACNA2D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051924 regulation of calcium ion transport IBA --
GO:0070588 calcium ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with CACNA2D3: view

Compounds for CACNA2D3 Gene

(1) HMDB Compounds for CACNA2D3 Gene

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

(2) Drugbank Compounds for CACNA2D3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amlodipine
  • Amlodipine Benzenesulfonate
88150-42-9 target inhibitor
Nilvadipine
75530-68-6 target inhibitor
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA2D3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CACNA2D3

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) (4.7), Brain - Frontal Cortex (BA9) (4.5), Brain - Putamen (basal ganglia) (4.5), and Brain - Cortex (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CACNA2D3 Gene

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 expressions with CACNA2D3: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia CACNA2D3 35
  • 99.75 (n)
  • 99.91 (a)
CACNA2D3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA2D3 35
  • 92.88 (n)
  • 98.17 (a)
CACNA2D3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA2D3 35
  • 92.83 (n)
  • 98.19 (a)
CACNA2D3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna2d3 35
  • 90.01 (n)
  • 98.08 (a)
Cacna2d3 16
Cacna2d3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA2D3 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA2D3 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna2d3 35
  • 89.74 (n)
  • 97.79 (a)
chicken
(Gallus gallus)
Aves CACNA2D3 35
  • 83.1 (n)
  • 94.26 (a)
CACNA2D3 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA2D3 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cacna2d3-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna2d3 35
  • 76.43 (n)
  • 87.32 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna2d3 35
  • 71.76 (n)
  • 78.08 (a)
cacna2d3 36
  • 75 (a)
OneToMany
CACNA2D3 (1 of 2) 36
  • 75 (a)
OneToMany
Dr.19748 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005490 35
  • 47.82 (n)
  • 38.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42817 36
  • 30 (a)
ManyToMany
CG4587 36
  • 28 (a)
ManyToMany
stj 35
  • 47.84 (n)
  • 37.86 (a)
stj 36
  • 29 (a)
ManyToMany
CG12295 37
  • 28 (a)
BG:DS07473.1 37
  • 29 (a)
BG:DS07108.2 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-36 36
  • 21 (a)
OneToMany
unc-36 37
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
-- 36
  • 42 (a)
ManyToMany
Species with no ortholog for CACNA2D3:
  • 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

Selected 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 MAF
rs17140 -- 54,531,881(-) ATGTT(C/T)AGAAC intron-variant
rs165388 -- 55,056,675(+) ggaga(A/T)catta intron-variant
rs165440 -- 55,070,588(+) GGGAC(A/G)TTAAT intron-variant
rs173364 -- 55,046,252(+) ccccc(G/T)tcccc intron-variant
rs187195 -- 55,049,687(+) tgtct(A/G)atatt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv3827 CNV Insertion 18451855
nsv518483 CNV Loss 19592680
esv2606802 CNV Deletion 19546169
esv2322950 CNV Deletion 18987734
esv2725287 CNV Deletion 23290073
esv2663971 CNV Deletion 23128226
nsv876806 CNV Loss 21882294
dgv604n27 CNV Gain 19166990
nsv470594 CNV Gain 18288195
esv2457570 CNV Deletion 19546169
esv2725288 CNV Deletion 23290073
nsv527408 CNV Loss 19592680
nsv517851 CNV Gain 19592680
esv2725289 CNV Deletion 23290073
dgv5140n71 CNV Loss 21882294
nsv876810 CNV Gain 21882294
esv1582956 CNV Insertion 17803354
esv259841 OTHER Complex 20981092
nsv237564 CNV Insertion 16902084
nsv3828 CNV Insertion 18451855
nsv834700 CNV Gain 17160897
nsv818141 CNV Loss 17921354
nsv525644 CNV Gain 19592680
esv2662923 CNV Deletion 23128226
esv2725290 CNV Deletion 23290073
esv2725291 CNV Deletion 23290073
dgv284n21 CNV Loss 19592680
nsv517265 CNV Loss 19592680
nsv876811 CNV Gain 21882294
esv2662512 CNV Deletion 23128226
nsv876812 CNV Gain 21882294
nsv3829 CNV Insertion 18451855
esv2456893 CNV Insertion 19546169
esv2678712 CNV Deletion 23128226
dgv285n21 CNV Loss 19592680
esv993548 CNV Insertion 20482838
esv1625556 CNV Insertion 17803354

Relevant External Links for CACNA2D3 Gene

HapMap Linkage Disequilibrium report
CACNA2D3
Human Gene Mutation Database (HGMD)
CACNA2D3

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

Disorders for CACNA2D3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for CACNA2D3 Gene including...

Search for CACNA2D3 Gene in MalaCards »

(1) University of Copenhagen DISEASES for CACNA2D3 Gene

Relevant External Links for CACNA2D3

Genetic Association Database (GAD)
CACNA2D3
Human Genome Epidemiology (HuGE) Navigator
CACNA2D3
genes like me logo Genes that share disorders with CACNA2D3: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl G.R. … Lerman C. (Arch. Gen. Psychiatry 2008) 3 48
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48
  5. 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 48

Products for CACNA2D3 Gene

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Sources for CACNA2D3 Gene

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