Hs02544778_cn

• Gene Symbol: GJD2
• Assay Reference Genome Location: Chr.15:34754429 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: Overlaps Intron 2 - Exon 2

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

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

More Information

• Set Membership: Intragenic, Non-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