Gene: CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1) Homo sapiens
Analyze
Symbol: CACNA2D1
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CACNA2; CACNL2A; calcium channel, L type, alpha 2 polypeptide; calcium channel, voltage-dependent, alpha 2/delta subunit 1; calcium channel, voltage-dependent, alpha2/delta subunit 1; CCHL2A; dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit; LINC01112; lncRNA-N3; long intergenic non-protein coding RNA 1112; OTTHUMP00000161364; voltage-dependent calcium channel subunit alpha-2/delta-1; voltage-gated calcium channel subunit alpha-2/delta-1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38781,946,444 - 82,443,921 (-)NCBIGRCh38hg38GRCh38
GRCh37781,575,760 - 82,073,031 (-)NCBIGRCh37hg19GRCh37
Build 36781,417,354 - 81,910,967 (-)NCBINCBI36hg18NCBI36
Build 34781,224,068 - 81,717,682NCBI
Celera776,279,569 - 76,773,517 (-)NCBI
Cytogenetic Map7q21.11NCBImapview
HuRef776,182,274 - 76,676,613 (-)NCBI
CHM1_1781,505,845 - 82,003,170 (-)NCBI
CRA_TCAGchr7v2780,910,288 - 81,405,123 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CACNA2D1
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 731942
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2017-09-05
Status: ACTIVE