Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 55799, updated on 24-Nov-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
    109.20201120 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

    Associated conditions

    Description Tests
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    GeneReviews: Not available
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    GeneReviews: Not available
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    GeneReviews: Not available
    Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
    GeneReviews: Not available
    Genome-wide association study of antibody response to smallpox vaccine.
    GeneReviews: Not available
    Genome-wide association study of endometrial cancer in E2C2.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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 (5) 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 ...
      cd12912
      Location:508622
      PDC2_MCP_like; second PDC (PhoQ/DcuS/CitA) domain of methyl-accepting chemotaxis proteins and similar domains
      pfam08399
      Location:113229
      VWA_N; VWA N-terminal
      pfam08473
      Location:6551068
      VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
      pfam02743
      Location:442552
      dCache_1; Cache domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

    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)
    Support Center