Hs00471231_cn

• Gene Symbol: GJD3
• Assay Reference Genome Location: Chr.17:40363587 on build GRCh38
• Cytoband: 17q21.2

Target Gene Details

• Entrez Gene ID: 125111
• Gene Name: gap junction protein delta 3
• Gene Aliases: CX31.9, Cx30.2, GJA11, GJC1
• Location: Chr.17:40360652-40364693 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJD3	NM_152219.3	1	1107	NP_689343.3
	AK125254.1	1	1107	BAC86102.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833445	Chr.17:40310222 - 40481717 on Build GRCh38	Loss	LOC105371934 TOP2A TNS4 RARA RARA-AS1 GJD3 IGFBP4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

cell communication
response to glucose
gap junction assembly
ion transmembrane transport

Function(s)

ion channel activity
gap junction channel activity
protein binding