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Gene: CACNA1C (calcium voltage-gated channel subunit alpha1 C) Homo sapiens
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Symbol: CACNA1C
Name: calcium voltage-gated channel subunit alpha1 C
Description: This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CACH2; CACN2; CACNL1A1; calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit; calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle; calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle; calcium channel, voltage-dependent, alpha 1c subunit; calcium channel, voltage-dependent, L type, alpha 1C subunit; CaV1.2; CCHL1A1; DHPR, alpha-1 subunit; LQT8; MGC120730; TS; TS. LQT8; voltage-dependent L-type Ca2+ channel alpha 1 subunit; voltage-dependent L-type calcium channel subunit alpha-1C; voltage-gated calcium channel alpha subunit Cav1.2; voltage-gated calcium channel subunit alpha Cav1.2; voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38121,969,552 - 2,697,950 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37122,079,952 - 2,807,115 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,032,725 - 2,677,376 (+)NCBINCBI36hg18NCBI36
Build 34122,032,724 - 2,672,368NCBI
Celera123,770,102 - 4,421,688 (+)NCBI
Cytogenetic Map12p13.33NCBI
HuRef122,016,425 - 2,664,566 (+)NCBIHuRef
CHM1_1122,161,408 - 2,806,152 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Molecular Pathway Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences