Hs01468145_cn

• Gene Symbol: GJD2
• Assay Reference Genome Location: Chr.15:34753171 on build GRCh38
• Cytoband: 15q14

Target Gene Details

• Entrez Gene ID: 57369
• Gene Name: gap junction protein delta 2
• Gene Aliases: CX36, GJA9
• Location: Chr.15:34751746-34754955 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJD2	NM_020660.2	2	366	NP_065711.1
	XM_017022438.1	2	422	XP_016877927.1
	BC069339.1	2	273	AAH69339.1
	BC112110.1	2	366	AAI12111.1
	BC112114.1	2	366	AAI12115.1
	BC143788.1	2	366

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv569133	Chr.15:34589103 - 34850365 on Build GRCh38	Gain	ACTC1 GJD2 LOC101928174
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	NOP10 MIR1233-1 SLC12A6 NUTM1 EMC4 AQR MIR1233-2 RYR3 EMC7 PGBD4 GOLGA8A GOLGA8B AVEN LPCAT4 CHRM5 KATNBL1 ZNF770 ACTC1 GJD2 LOC101928174
nsv522411	Chr.15:34661785 - 35170780 on Build GRCh38	Gain	ZNF770 ACTC1 GJD2 AQR LOC101928174

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

action potential
chemical synaptic transmission
visual perception
transmembrane transport

Function(s)

gap junction channel activity