Hs07007933_cn

• Gene Symbol: CACNA2D4
• Assay Reference Genome Location: Chr.12:1811278 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 Intron 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA2D4	NM_172364.4			NP_758952.4
	XM_011521041.2			XP_011519343.1
	AF516695.1			AAN06672.1
	AK301234.1
	AL137658.1
	BC048288.1			AAH48288.1
	BC150186.1
	BI908421.1
	BX537436.1			CAD97678.1
	BX537437.1			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	LRTM2 CACNA2D4 ADIPOR2
nsv556996	Chr.12:1782206 - 1825754 on Build GRCh38	Gain	LRTM2 CACNA2D4 ADIPOR2
nsv518013	Chr.12:1805107 - 1843824 on Build GRCh38	Loss	LRTM2 CACNA2D4
dgv2273n54	Chr.12:1798687 - 1824387 on Build GRCh38	Loss	LRTM2 CACNA2D4
nsv832306	Chr.12:1738560 - 1892142 on Build GRCh38	Loss	LRTM2 CACNA2D4 ADIPOR2

More Information

• Set Membership: Intragenic, Intronic, Non-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