Hs06342296_cn

• Gene Symbol: CACNA1C
• Assay Reference Genome Location: Chr.12:2048506 on build GRCh38
• Cytoband: 12p13.33

Target Gene Details

• Entrez Gene ID: 775
• Gene Name: calcium voltage-gated channel subunit alpha1 C
• Gene Aliases: CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS
• Location: Chr.12:1969677-2697949 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA1C	XM_006719017.2			XP_006719080.1
	XM_011521020.2			XP_011519322.1
	XM_017019926.1			XP_016875415.1
	XM_017019927.1			XP_016875416.1
	XM_017019928.1			XP_016875417.1
	XM_017019929.1			XP_016875418.1
	XM_017019930.1			XP_016875419.1
	XM_017019931.1			XP_016875420.1
	XM_017019932.1			XP_016875421.1
	XM_017019933.1			XP_016875422.1
	XM_017019934.1			XP_016875423.1
	XM_017019935.1			XP_016875424.1
	XM_017019936.1			XP_016875425.1
	XM_017019937.1			XP_016875426.1
	XM_017019938.1			XP_016875427.1
	XM_017019939.1			XP_016875428.1
	XM_017019940.1			XP_016875429.1
	XM_017019941.1			XP_016875430.1
	XM_017019942.1			XP_016875431.1
	XM_017019943.1			XP_016875432.1
	XM_017019944.1			XP_016875433.1
	XM_017019945.1			XP_016875434.1
	XM_017019946.1			XP_016875435.1
	XM_017019947.1			XP_016875436.1
	XM_017019948.1			XP_016875437.1
	XM_017019949.1			XP_016875438.1
	XM_017019950.1			XP_016875439.1
	XM_017019951.1			XP_016875440.1
	XM_017019952.1			XP_016875441.1
	XM_017019953.1			XP_016875442.1
	XM_017019954.1			XP_016875443.1
	XM_017019955.1			XP_016875444.1

Target Gene Details

• Entrez Gene ID: 100874369
• Gene Name: CACNA1C intronic transcript 2
• Gene Aliases: -
• Location: Chr.12:2048352-2049463 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA1C-IT2	NR_046768.1	1	155
	AI810102.1	2	435

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv521838	Chr.12:1951414 - 2190514 on Build GRCh38	Gain	CACNA1C CACNA1C-IT2 DCP1B
nsv826182	Chr.12:2027229 - 2098908 on Build GRCh38	Gain	CACNA1C CACNA1C-IT2
nsv1040370	Chr.12:1912229 - 2561851 on Build GRCh38	Gain	CACNA1C CACNA1C-IT3 CACNA1C-IT2 CACNA2D4 LINC00940 DCP1B CACNA1C-AS4
nsv826183	Chr.12:2038303 - 2148652 on Build GRCh38	Gain	CACNA1C CACNA1C-IT2
esv3580294	Chr.12:2020191 - 2071938 on Build GRCh38	Gain	CACNA1C CACNA1C-IT2
esv3580037	Chr.12:2047062 - 2054316 on Build GRCh38	Loss	CACNA1C CACNA1C-IT2

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

immune system development
positive regulation of cytosolic calcium ion concentration
heart development
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
embryonic forelimb morphogenesis
calcium-mediated signaling using extracellular calcium source
camera-type eye development
regulation of insulin secretion
calcium ion transport into cytosol
cardiac conduction
calcium ion transmembrane transport via high voltage-gated calcium channel
calcium ion transmembrane transport
cardiac muscle cell action potential involved in contraction
membrane depolarization during cardiac muscle cell action potential
membrane depolarization during AV node cell action potential
cell communication by electrical coupling involved in cardiac conduction
regulation of heart rate by cardiac conduction
regulation of ventricular cardiac muscle cell action potential
membrane depolarization during atrial cardiac muscle cell action potential

Function(s)

voltage-gated calcium channel activity
protein binding
calmodulin binding
high voltage-gated calcium channel activity
metal ion binding
alpha-actinin binding
voltage-gated calcium channel activity involved in cardiac muscle cell action potential
voltage-gated calcium channel activity involved in AV node cell action potential