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CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 [ Homo sapiens (human) ]

Gene ID: 9254, updated on 3-May-2020

Summary

Official Symbol
CACNA2D2provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit alpha2delta 2provided by HGNC
Primary source
HGNC:HGNC:1400
See related
Ensembl:ENSG00000007402 MIM:607082
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
CASVDD; CACNA2D
Summary
Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Expression
Biased expression in lung (RPKM 29.8), testis (RPKM 5.0) and 4 other tissues See more
Orthologs

Genomic context

See CACNA2D2 in Genome Data Viewer
Location:
3p21.31
Exon count:
40
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (50362613..50504244, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50400230..50540892, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cytochrome b561 family member D2 Neighboring gene NPR2 like, GATOR1 complex subunit Neighboring gene transmembrane protein 115 Neighboring gene RNA, 5S ribosomal pseudogene 131 Neighboring gene uncharacterized LOC105377082 Neighboring gene uncharacterized LOC105377083 Neighboring gene chromosome 3 open reading frame 18 Neighboring gene HemK methyltransferase family member 1

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0558

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
 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of organ growth IEA
Inferred from Electronic Annotation
more info
 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
rhythmic synaptic transmission 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-2
Names
alpha 2 delta calcium channel subunit
calcium channel, voltage-dependent, alpha 2/delta subunit 2
gene 26
voltage-gated calcium channel subunit alpha-2/delta-2

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.

Genomic

  1. NG_034070.1 RefSeqGene

    Range
    5611..146632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005505.3NP_001005505.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform a precursor

    See identical proteins and their annotated locations for NP_001005505.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the central coding region and uses an alternate in-frame splice site in the 3' coding region compared to variant 3. The encoded isoform (a) is shorter than isoform c.
    Source sequence(s)
    AF040709, AL450422, BF373910, Z84492
    Consensus CDS
    CCDS63647.1
    UniProtKB/Swiss-Prot
    Q9NY47
    Related
    ENSP00000266039.3, ENST00000266039.7
    Conserved Domains (4) summary
    cd01463
    Location:277456
    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:485573
    Cache_1; Cache domain
    pfam08399
    Location:141265
    VWA_N; VWA N-terminal
    pfam08473
    Location:580664
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
  2. NM_001174051.3NP_001167522.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor

    See identical proteins and their annotated locations for NP_001167522.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c, also known as Alpha2delta-2a).
    Source sequence(s)
    AF040709, AJ251368, AL450422, BF373910, Z84492
    Consensus CDS
    CCDS54588.1
    UniProtKB/Swiss-Prot
    Q9NY47
    Related
    ENSP00000418081.1, ENST00000479441.1
    Conserved Domains (4) summary
    cd01463
    Location:277456
    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:485573
    Cache_1; Cache domain
    pfam08399
    Location:141265
    VWA_N; VWA N-terminal
    pfam08473
    Location:580663
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
  3. NM_001291101.1NP_001278030.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform d

    See identical proteins and their annotated locations for NP_001278030.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has a different 5' structure, lacks an in-frame exon in the central coding region and uses an alternate in-frame splice site in the 3' coding region, resulting in the use of a downstream start codon compared to variant 3. The encoded isoform (d) has a shorter N-terminus compared to isoform c.
    Source sequence(s)
    AF042793, BF373910, Z84492
    Consensus CDS
    CCDS77748.1
    UniProtKB/Swiss-Prot
    Q9NY47
    Related
    ENSP00000354228.3, ENST00000360963.7
    Conserved Domains (4) summary
    cd01463
    Location:208387
    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:416504
    Cache_1; Cache domain
    pfam08399
    Location:72196
    VWA_N; VWA N-terminal
    pfam08473
    Location:511595
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
  4. NM_006030.4NP_006021.2  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform b precursor

    See identical proteins and their annotated locations for NP_006021.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 3. The encoded isoform (b, also known as Alpha2delta-2b) is shorter than isoform c.
    Source sequence(s)
    AF040709, AJ251367, AL450422, BF373910, Z84492
    Consensus CDS
    CCDS33763.1
    UniProtKB/Swiss-Prot
    Q9NY47
    Related
    ENSP00000390329.2, ENST00000424201.6
    Conserved Domains (4) summary
    cd01463
    Location:277456
    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:485573
    Cache_1; Cache domain
    pfam08399
    Location:141265
    VWA_N; VWA N-terminal
    pfam08473
    Location:580664
    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
    50362613..50504244 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265581.4XP_005265638.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X2

    UniProtKB/TrEMBL
    C9JE82
    Related
    ENSP00000404631.1, ENST00000429770.5
    Conserved Domains (4) summary
    cd01463
    Location:277456
    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:485573
    Cache_1; Cache domain
    pfam08399
    Location:141265
    VWA_N; VWA N-terminal
    pfam08473
    Location:580664
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
  2. XM_011534243.2XP_011532545.1  voltage-dependent calcium channel subunit alpha-2/delta-2 isoform X1

    Related
    ENSP00000407393.2, ENST00000423994.6
    Conserved Domains (4) summary
    cd01463
    Location:277456
    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:485573
    Cache_1; Cache domain
    pfam08399
    Location:141265
    VWA_N; VWA N-terminal
    pfam08473
    Location:580663
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
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