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CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 [ Homo sapiens (human) ]

Gene ID: 781, updated on 2-Mar-2021

Summary

Official Symbol
CACNA2D1provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit alpha2delta 1provided by HGNC
Primary source
HGNC:HGNC:1399
See related
Ensembl:ENSG00000153956 MIM:114204
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
CACNA2; CCHL2A; CACNL2A; LINC01112; lncRNA-N3
Summary
The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]
Expression
Broad expression in brain (RPKM 8.0), heart (RPKM 5.6) and 21 other tissues See more
Orthologs
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Genomic context

See CACNA2D1 in Genome Data Viewer
Location:
7q21.11
Exon count:
45
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (81946444..82443956, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (81575760..82073272, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100128317 Neighboring gene DEAD-box helicase 43 pseudogene 3 Neighboring gene hepatocyte growth factor Neighboring gene CACNA2D1 antisense RNA 1 Neighboring gene uncharacterized LOC107986813 Neighboring gene VISTA enhancer hs2419 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 5 Neighboring gene uncharacterized LOC105375376

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
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
GeneReviews: Not available
Genetic predictors of medically refractory ulcerative colitis.
GeneReviews: Not available
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
GeneReviews: Not available
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
GeneReviews: Not available
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
GeneReviews: Not available
Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30478

Gene Ontology Provided by GOA

Process Evidence Code Pubs
calcium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transmembrane transport via high voltage-gated calcium channel ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cardiac conduction TAS
Traceable Author Statement
more info
 
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to amyloid-beta IGI
Inferred from Genetic Interaction
more info
PubMed 
membrane depolarization during bundle of His cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of high voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane repolarization during action potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
L-type voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-type voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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-1
Names
calcium channel, L type, alpha 2 polypeptide
calcium channel, voltage-dependent, alpha 2/delta subunit 1
dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit
voltage-gated calcium channel subunit alpha-2/delta-1

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_009358.2 RefSeqGene

    Range
    4910..502272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_437

mRNA and Protein(s)

  1. NM_000722.4NP_000713.2  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000713.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC006145, AI924415, AL707206, AL833141, BC051339, BG055272, BP258070, M76559
    Consensus CDS
    CCDS5598.1
    UniProtKB/Swiss-Prot
    P54289
    Related
    ENSP00000349320.3, ENST00000356860.8
    Conserved Domains (5) summary
    cd01463
    Location:239417
    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:446531
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    pfam08473
    Location:543627
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:636816
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  2. NM_001302890.2NP_001289819.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' exons and contains an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1. This isoform lacks the entire delta chain and a large portion of the alpha-2 chain.
    Source sequence(s)
    BC051339, BP258070
    Consensus CDS
    CCDS78253.1
    UniProtKB/TrEMBL
    E7ERK3
    Related
    ENSP00000405395.1, ENST00000423588.1
    Conserved Domains (2) summary
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    cl00057
    Location:239300
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  3. NM_001366867.1NP_001353796.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC004970, AC004989, AC006145, AC008283
    Related
    ENSP00000348589.5, ENST00000356253.9
    Conserved Domains (4) summary
    cd01463
    Location:239417
    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:458554
    dCache_1; Cache domain
    pfam08399
    Location:110223
    VWA_N; VWA N-terminal
    pfam08473
    Location:6451034
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    81946444..82443956 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250574.3XP_005250631.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X9

    UniProtKB/Swiss-Prot
    P54289
    Conserved Domains (5) summary
    cd01463
    Location:239417
    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:446530
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    pfam08473
    Location:538622
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:537804
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  2. XM_005250572.3XP_005250629.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X6

    UniProtKB/Swiss-Prot
    P54289
    Conserved Domains (5) summary
    cd01463
    Location:239417
    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:446530
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    pfam08473
    Location:538622
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:631811
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  3. XM_005250573.3XP_005250630.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X8

    UniProtKB/Swiss-Prot
    P54289
    Conserved Domains (5) summary
    cd01463
    Location:239417
    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:446531
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    pfam08473
    Location:543627
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:542809
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  4. XM_011516572.3XP_011514874.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X5

    Conserved Domains (5) summary
    cd01463
    Location:239417
    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:446536
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    pfam08473
    Location:557641
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:556823
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  5. XM_011516571.3XP_011514873.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X3

    Conserved Domains (5) summary
    cd01463
    Location:239417
    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:446536
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    pfam08473
    Location:557641
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:650830
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  6. XM_006716118.3XP_006716181.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X1

    See identical proteins and their annotated locations for XP_006716181.1

    UniProtKB/TrEMBL
    Q9UIU0
    Conserved Domains (5) summary
    cd01463
    Location:239417
    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:446536
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    pfam08473
    Location:562646
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:655835
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  7. XM_006716120.3XP_006716183.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X10

    Conserved Domains (4) summary
    cd01463
    Location:200378
    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:407497
    Cache_1; Cache domain
    pfam08399
    Location:65184
    VWA_N; VWA N-terminal
    pfam08473
    Location:523607
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
  8. XM_017012588.1XP_016868077.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X11

  9. XM_006716119.3XP_006716182.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X7

    Conserved Domains (4) summary
    cd01463
    Location:214392
    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:421511
    Cache_1; Cache domain
    pfam08399
    Location:79198
    VWA_N; VWA N-terminal
    pfam08473
    Location:537621
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
  10. XM_006716121.3XP_006716184.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X12

    Conserved Domains (2) summary
    pfam08473
    Location:32116
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:125305
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein
  11. XM_011516570.3XP_011514872.1  voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2

    Conserved Domains (5) summary
    cd01463
    Location:239417
    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:446536
    Cache_1; Cache domain
    pfam08399
    Location:104223
    VWA_N; VWA N-terminal
    pfam08473
    Location:562646
    VGCC_alpha2; Neuronal voltage-dependent calcium channel alpha 2acd
    cl21471
    Location:655835
    RAMP_I_III; CRISPR/Cas system-associated RAMP superfamily protein

RNA

  1. XR_001744874.2 RNA Sequence

  2. XR_001744873.2 RNA Sequence

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