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CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 [ Homo sapiens (human) ]

Gene ID: 55799, updated on 10-May-2020

Summary

Official Symbol
CACNA2D3provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit alpha2delta 3provided by HGNC
Primary source
HGNC:HGNC:15460
See related
Ensembl:ENSG00000157445 MIM:606399
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSA272268
Summary
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]
Expression
Broad expression in brain (RPKM 3.0), adrenal (RPKM 1.8) and 16 other tissues See more
Orthologs

Genomic context

See CACNA2D3 in Genome Data Viewer
Location:
3p21.1-p14.3
Exon count:
38
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (54122552..55074557)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (54156620..55108584)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377095 Neighboring gene calcium binding tyrosine phosphorylation regulated pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 13251 Neighboring gene uncharacterized LOC107986088 Neighboring gene ribosomal protein S15 pseudogene 5 Neighboring gene embryonic stem cell related Neighboring gene CACNA2D3 antisense RNA 1 Neighboring gene uncharacterized LOC107986089 Neighboring gene VISTA enhancer hs1436 Neighboring gene leucine rich repeats and transmembrane domains 1 Neighboring gene uncharacterized LOC105377097 Neighboring gene long intergenic non-protein coding RNA 2017

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
NHGRI GWA Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog
Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
NHGRI GWA Catalog
Genome-wide association study of antibody response to smallpox vaccine.
NHGRI GWA Catalog
Genome-wide association study of endometrial cancer in E2C2.
NHGRI GWA Catalog

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
voltage-dependent calcium channel subunit alpha-2/delta-3
Names
calcium channel alpha2-delta3 subunit
calcium channel, voltage-dependent, alpha 2/delta 3 subunit
calcium channel, voltage-dependent, alpha 2/delta subunit 3
voltage-gated calcium channel subunit alpha-2/delta-3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_018398.3NP_060868.2  voltage-dependent calcium channel subunit alpha-2/delta-3 precursor

    See identical proteins and their annotated locations for NP_060868.2

    Status: REVIEWED

    Source sequence(s)
    AC092057, AC092797, AC104298, AC109584, AC115282, AC133010, AC137673, AC138059
    Consensus CDS
    CCDS54598.1
    UniProtKB/Swiss-Prot
    Q8IZS8
    Related
    ENSP00000419101.1, ENST00000474759.6
    Conserved Domains (4) summary
    cd01463
    Location:242425
    vWA_VGCC_like; VWA Voltage gated Calcium channel like: Voltage-gated calcium channels are a complex of five proteins: alpha 1, beta 1, gamma, alpha 2 and delta. The alpha 2 and delta subunits result from proteolytic processing of a single gene product and carries at ...
    pfam02743
    Location:470555
    dCache_1; Cache domain
    pfam08399
    Location:119229
    VWA_N; VWA N-terminal
    pfam08473
    Location:6551021
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    54122552..55074557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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