Hs00760570_cn

• Gene Symbol: CACNA2D4
• Assay Reference Genome Location: Chr.12:1793473 on build GRCh38
• Cytoband: 12p13.33

Target Gene Details

• Entrez Gene ID: 93589
• Gene Name: calcium voltage-gated channel auxiliary subunit alpha2delta 4
• Gene Aliases: RCD4
• Location: Chr.12:1791957-1922606 on Build GRCh38
• Assay Gene Location: Within Exon 38

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA2D4	NM_172364.4	38	3827	NP_758952.4
	AF516695.1	38	3959	AAN06672.1
	AK301234.1	11	1068
	AL137658.1	15	1366
	BC048288.1	10	933	AAH48288.1
	BC150186.1	37	3750
	BX537436.1	36	4427	CAD97678.1
	BX537437.1	38	3828	CAD97679.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832305	Chr.12:1660686 - 1826888 on Build GRCh38	Gain	ADIPOR2 CACNA2D4 LRTM2
nsv556996	Chr.12:1782206 - 1825754 on Build GRCh38	Gain	ADIPOR2 CACNA2D4 LRTM2
nsv832306	Chr.12:1738560 - 1892142 on Build GRCh38	Loss	ADIPOR2 CACNA2D4 LRTM2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

regulation of ion transmembrane transport
detection of light stimulus involved in visual perception
regulation of calcium ion transport
cardiac conduction
calcium ion transmembrane transport

Function(s)

voltage-gated calcium channel activity
calcium channel regulator activity
metal ion binding