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CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 [ Homo sapiens (human) ]

Gene ID: 93589, updated on 11-Jun-2021

Summary

Official Symbol
CACNA2D4provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit alpha2delta 4provided by HGNC
Primary source
HGNC:HGNC:20202
See related
Ensembl:ENSG00000151062 MIM:608171
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
RCD4
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 testis (RPKM 1.1), appendix (RPKM 1.0) and 24 other tissues See more
Orthologs
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Genomic context

See CACNA2D4 in Genome Data Viewer
Location:
12p13.33
Exon count:
38
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (1791963..1922606, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (1901129..2027818, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SDA1 domain containing 1 pseudogene Neighboring gene adiponectin receptor 2 Neighboring gene uncharacterized LOC105369602 Neighboring gene Sharpr-MPRA regulatory region 5038 Neighboring gene uncharacterized LOC105369601 Neighboring gene ribosomal protein S4X pseudogene 14 Neighboring gene uncharacterized LOC112268103 Neighboring gene leucine rich repeats and transmembrane domains 2 Neighboring gene lysosomal associated membrane protein 1 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 940 Neighboring gene decapping mRNA 1B Neighboring gene calcium voltage-gated channel subunit alpha1 C

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 association study of behavioral disinhibition.
GeneReviews: Not available
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
GeneReviews: Not available
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Retinal cone dystrophy 4
MedGen: C1864849 OMIM: 610478 GeneReviews: Not available
not available

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
voltage-dependent calcium channel subunit alpha-2/delta-4
Names
calcium channel, voltage-dependent, alpha 2/delta subunit 4
voltage-gated calcium channel alpha(2)delta-4 subunit
voltage-gated calcium channel subunit alpha-2/delta-4

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_012663.2 RefSeqGene

    Range
    5053..131742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_172364.5NP_758952.4  voltage-dependent calcium channel subunit alpha-2/delta-4

    See identical proteins and their annotated locations for NP_758952.4

    Status: REVIEWED

    Source sequence(s)
    AC005342, AC005343, AF516695, BX537437
    Consensus CDS
    CCDS44785.1
    UniProtKB/Swiss-Prot
    Q7Z3S7
    Related
    ENSP00000372169.4, ENST00000382722.10
    Conserved Domains (3) summary
    cd01463
    Location:277460
    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:487579
    Cache_1; Cache domain
    pfam08399
    Location:148264
    VWA_N; VWA N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    1791963..1922606 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521041.2XP_011519343.1  voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X1

    Conserved Domains (3) summary
    cd01463
    Location:277463
    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:490582
    Cache_1; Cache domain
    pfam08399
    Location:148264
    VWA_N; VWA N-terminal

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654718.1 Reference GRCh38.p13 PATCHES

    Range
    134107..260796 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001005737.1: Suppressed sequence

    Description
    NM_001005737.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001005766.1: Suppressed sequence

    Description
    NM_001005766.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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