Hs06675423_cn

• Gene Symbol: CACNA2D3
• Assay Reference Genome Location: Chr.3:54633161 on build GRCh38
• Cytoband: 3p14.3

Target Gene Details

• Entrez Gene ID: 55799
• Gene Name: calcium voltage-gated channel auxiliary subunit alpha2delta 3
• Gene Aliases: HSA272268
• Location: Chr.3:54122594-55074557 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA2D3	NM_018398.2			NP_060868.2
	XM_005265318.2			XP_005265375.1
	XM_011533946.2			XP_011532248.1
	XM_011533947.2			XP_011532249.1
	XM_011533948.2			XP_011532250.1
	XM_011533949.2			XP_011532251.1
	XM_011533950.2			XP_011532252.1
	XM_011533951.2			XP_011532253.1
	XM_011533952.2			XP_011532254.1
	XM_011533953.2			XP_011532255.1
	XM_017006850.1			XP_016862339.1
	XM_017006851.1			XP_016862340.1
	XM_017006852.1			XP_016862341.1
	AF516696.1			AAN06673.1
	AJ272213.1			CAB75878.1
	AJ272268.1			CAB75962.1
	AK299718.1
	AK307449.1
	BC137502.1
	BC137505.1

Target Gene Details

• Entrez Gene ID: 790952
• Gene Name: embryonic stem cell related (non-protein coding)
• Gene Aliases: HESRG
• Location: Chr.3:54632124-54639857 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ESRG	NR_027122.1
	DQ445779.2			ABD92927.1
	KM363598.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834700	Chr.3:54603347 - 54769869 on Build GRCh38	Gain	ESRG CACNA2D3
nsv517851	Chr.3:54375499 - 55705332 on Build GRCh38	Gain	CACNA2D3-AS1 ESRG WNT5A CACNA2D3 LRTM1 ERC2 ERC2-IT1
nsv1014595	Chr.3:53910446 - 54812727 on Build GRCh38	Loss	ESRG CACNA2D3
nsv525644	Chr.3:54619289 - 54675960 on Build GRCh38	Gain	ESRG CACNA2D3

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
regulation of calcium ion transport
cardiac conduction
calcium ion transmembrane transport

Function(s)

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