Hs05727037_cn

• Gene Symbol: GJA4
• Assay Reference Genome Location: Chr.1:34793482 on build GRCh38
• Cytoband: 1p34.3

Target Gene Details

• Entrez Gene ID: 2701
• Gene Name: gap junction protein alpha 4
• Gene Aliases: CX37
• Location: Chr.1:34792958-34795747 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJA4	NM_002060.2			NP_002051.2
	XM_005270750.2			XP_005270807.1
	XM_017001043.1			XP_016856532.1
	AK291563.1
	AK313477.1
	BC027889.1			AAH27889.1
	BC072389.1			AAH72389.1
	M96789.2			AAA52558.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1012995	Chr.1:34786068 - 34884653 on Build GRCh38	Gain	DLGAP3 SMIM12 GJA4 GJB3
esv1003104	Chr.1:34790757 - 34795666 on Build GRCh38	Deletion	GJA4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

blood vessel development
endothelium development
transport
calcium ion transport
cell-cell junction assembly
cell-cell signaling
response to pain

Function(s)

protein binding