Hs01399774_cn

• Gene Symbol: CACNA1C
• Assay Reference Genome Location: Chr.12:2677775 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 Exon 48

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA1C	NM_000719.6	41	5312	NP_000710.5
	NM_001129827.1	43	5456	NP_001123299.1
	NM_001129829.1	41	5435	NP_001123301.1
	NM_001129830.2	41	5277	NP_001123302.2
	NM_001129831.1	42	5396	NP_001123303.1
	NM_001129832.1	42	5372	NP_001123304.1
	NM_001129833.1	41	5369	NP_001123305.1
	NM_001129834.1	41	5369	NP_001123306.1
	NM_001129835.1	41	5369	NP_001123307.1
	NM_001129836.1	41	5363	NP_001123308.1
	NM_001129837.1	40	5336	NP_001123309.1
	NM_001129838.1	40	5336	NP_001123310.1
	NM_001129839.1	40	5330	NP_001123311.1
	NM_001129840.1	41	5312	NP_001123312.1
	NM_001129841.1	41	5312	NP_001123313.1
	NM_001129842.1	41	5312	NP_001123314.1
	NM_001129843.1	41	5312	NP_001123315.1
	NM_001129844.1	41	5303	NP_001123316.1
	NM_001129846.1	40	5279	NP_001123318.1
	NM_001167623.1	41	5312	NP_001161095.1
	NM_001167624.2	41	5277	NP_001161096.2
	NM_001167625.1	40	5279	NP_001161097.1
	NM_199460.3	43	5421	NP_955630.3
	XM_006719017.2	41	5366	XP_006719080.1
	XM_011521020.2	42	5441	XP_011519322.1
	XM_011521023.2	42	5626	XP_011519325.1
	XM_017019926.1	45	6889	XP_016875415.1
	XM_017019927.1	45	6889	XP_016875416.1
	XM_017019928.1	45	6889	XP_016875417.1
	XM_017019929.1	45	6832	XP_016875418.1
	XM_017019930.1	45	6832	XP_016875419.1
	XM_017019931.1	44	6748	XP_016875420.1
	XM_017019932.1	41	6520	XP_016875421.1
	XM_017019933.1	43	6637	XP_016875422.1
	XM_017019934.1	43	6628	XP_016875423.1
	XM_017019935.1	43	6628	XP_016875424.1
	XM_017019936.1	42	6610	XP_016875425.1
	XM_017019937.1	42	6610	XP_016875426.1
	XM_017019938.1	42	6610	XP_016875427.1
	XM_017019939.1	42	6604	XP_016875428.1
	XM_017019940.1	41	6577	XP_016875429.1
	XM_017019941.1	41	6571	XP_016875430.1
	XM_017019942.1	42	6553	XP_016875431.1
	XM_017019943.1	42	6553	XP_016875432.1
	XM_017019944.1	42	6553	XP_016875433.1
	XM_017019945.1	42	6553	XP_016875434.1
	XM_017019946.1	42	6553	XP_016875435.1
	XM_017019947.1	42	6553	XP_016875436.1
	XM_017019948.1	42	6553	XP_016875437.1
	XM_017019949.1	42	6553	XP_016875438.1
	XM_017019950.1	42	6547	XP_016875439.1
	XM_017019951.1	42	6544	XP_016875440.1
	XM_017019952.1	41	6520	XP_016875441.1
	XM_017019953.1	41	5366	XP_016875442.1
	XM_017019954.1	41	5366	XP_016875443.1
	XM_017019955.1	43	6628	XP_016875444.1
	AF465484.1	41	5264	AAM70049.1
	AJ224873.1	41	4999	CAA12174.1
	AK302698.1	11	1354
	AY830711.1	40	5017	AAX37354.1
	AY830712.1	41	5056	AAX37355.1
	AY830713.1	41	5122	AAX37356.1
	BC146846.1	41	5118
	L29529.1	39	4898	AAA51899.1
L29534.1	40	4925	AAA51900.1
L29536.1	40	4925	AAA51901.1
Z26294.1	10	1054	CAA81218.1
Z26295.1	16	1783	CAA81219.1
Z34809.1	41	4999	CAA84340.1
Z34810.1	41	4999	CAA84341.1
Z34811.1	41	5056	CAA84342.1
Z34812.1	40	5023	CAA84343.1
Z34813.1	40	5023	CAA84344.1
Z34814.1	40	4966	CAA84345.1
Z34815.1	41	4999	CAA84346.1
Z34816.1	41	4999	CAA84347.1
Z34817.1	40	5002	CAA84348.1
Z34818.1	42	5059	CAA84349.1
Z34819.1	42	5083	CAA84350.1
Z34820.1	41	5050	CAA84351.1
Z34821.1	43	5143	CAA84352.1
Z34822.1	41	4999	CAA84353.1
Z74996.1	41	5056	CAA99284.1

Target Gene Details

• Entrez Gene ID: 100652846
• Gene Name: CACNA1C antisense RNA 1
• Gene Aliases: -
• Location: Chr.12:2676001-2691157 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA1C-AS1	NR_045725.1	4	456
	AK093746.1	4	417

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1047874	Chr.12:2577599 - 2807322 on Build GRCh38	Gain	LOC283440 CACNA1C-AS2 FKBP4 CACNA1C CACNA1C-AS1
nsv832308	Chr.12:2576562 - 2690062 on Build GRCh38	Loss	CACNA1C-AS2 CACNA1C CACNA1C-AS1
dgv1344n100	Chr.12:2673632 - 2740600 on Build GRCh38	Gain	CACNA1C CACNA1C-AS1

More Information

• Set Membership: Intragenic, 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