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Gene: CACNA1D (calcium voltage-gated channel subunit alpha1 D) Homo sapiens
Symbol: CACNA1D
Name: calcium voltage-gated channel subunit alpha1 D
Description: Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CACH3; CACN4; CACNL1A2; calcium channel, L type, alpha-1 polypeptide, isoform 2; calcium channel, neuroendocrine/brain-type, alpha 1 subunit; calcium channel, voltage-dependent, L type, alpha 1D subunit; Cav1.3; CCHL1A2; PASNA; SANDD; voltage-dependent L-type calcium channel subunit alpha-1D; voltage-gated calcium channel alpha 1 subunit; voltage-gated calcium channel alpha subunit Cav1.3; voltage-gated calcium channel subunit alpha Cav1.3
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38353,494,611 - 53,813,733 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37353,529,076 - 53,847,179 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36353,504,116 - 53,821,001 (+)NCBINCBI36hg18NCBI36
Build 34353,504,115 - 53,821,001NCBI
Celera353,496,179 - 53,813,773 (+)NCBI
Cytogenetic Map3p21.1NCBI
HuRef353,577,566 - 53,895,012 (+)NCBIHuRef
CHM1_1353,480,800 - 53,798,135 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

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


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on CACNA1D
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735457
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.