Hs04552160_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147760748 on build GRCh38
• Cytoband: 1q21.2

Target Gene Details

• Entrez Gene ID: 2702
• Gene Name: gap junction protein alpha 5
• Gene Aliases: ATFB11, CX40
• Location: Chr.1:147756199-147781127 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJA5	NM_005266.6			NP_005257.2
	XM_005272951.4			XP_005273008.1
	XM_017001044.1	2	1901	XP_016856533.1
	BQ231177.1
	BQ924948.1
	DR003194.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	LINC00624 CD160 NUDT17 LOC100996517 LOC284561 LOC728989 MIR5087 HYDIN2 PDZK1 NOTCH2NL NBPF14 NBPF11 GJA8 PRKAB2 LOC100505824 CH17-408M7.1 RNVU1-7 CHD1L POLR3GL GPR89B PIAS3 RNVU1-8 PDE4DIP ACP6 PEX11B RNF115 GNRHR2 LINC01138 NBPF12 NUDT4P2 PDIA3P1 ANKRD35 RNVU1-6 LOC105371226 RBM8A LOC100996763 HFE2 LIX1L FMO5 GPR89A NBPF10 NBPF13P RNU1-13P MIR6077 PPIAL4G NUDT4P1 LOC105371242 GJA5 PDZK1P1 TXNIP MIR6736 LOC101928979 ANKRD34A LOC100132057 RNVU1-1 LOC101927468 BCL9 RNVU1-3 ITGA10 POLR3C
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	LINC00624 LOC105371226 LOC100996763 FMO5 NBPF10 LOC100996517 NBPF13P RNU1-13P LOC284561 MIR6077 LOC728989 MIR5087 HYDIN2 NOTCH2NL PPIAL4G NBPF14 NUDT4P1 NBPF11 GJA8 LOC105371242 PRKAB2 LOC100505824 CH17-408M7.1 RNVU1-7 GJA5 PDZK1P1 CHD1L GPR89B RNVU1-8 LOC101928979 PDE4DIP ACP6 LOC100132057 RNVU1-1 LINC01138 NBPF12 LOC101927468 NUDT4P2 PDIA3P1 BCL9 RNVU1-3 RNVU1-6
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	LINC00624 LOC105371226 LOC100996763 FMO5 NBPF10 LOC100996517 NBPF13P RNU1-13P LOC284561 MIR6077 LOC728989 MIR5087 HYDIN2 NOTCH2NL PPIAL4G NBPF14 NUDT4P1 NBPF11 GJA8 LOC105371242 PRKAB2 LOC100505824 CH17-408M7.1 RNVU1-7 GJA5 PDZK1P1 CHD1L GPR89B RNVU1-8 PDE4DIP ACP6 LOC100132057 RNVU1-1 LINC01138 NBPF12 LOC101927468 NUDT4P2 PDIA3P1 BCL9 RNVU1-3
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	LINC00624 LOC105371226 LOC100996763 HFE2 LIX1L FMO5 NBPF10 LOC100996517 NBPF13P RNU1-13P LOC284561 MIR6077 LOC728989 MIR5087 HYDIN2 NOTCH2NL PPIAL4G NBPF14 NUDT4P1 NBPF11 GJA8 LOC105371242 PRKAB2 LOC100505824 CH17-408M7.1 RNVU1-7 GJA5 PDZK1P1 CHD1L POLR3GL TXNIP GPR89B RNVU1-8 LOC101928979 ANKRD34A PDE4DIP ACP6 LOC100132057 RNVU1-1 LINC01138 NBPF12 LOC101927468 NUDT4P2 PDIA3P1 BCL9 RNVU1-3 RNVU1-6
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	LINC00624 LOC105371226 LOC100996763 FMO5 LOC100996517 NBPF13P RNU1-13P LOC284561 MIR6077 LOC728989 MIR5087 HYDIN2 NOTCH2NL PPIAL4G NBPF14 NUDT4P1 NBPF11 GJA8 LOC105371242 PRKAB2 LOC100505824 CH17-408M7.1 RNVU1-7 GJA5 PDZK1P1 CHD1L GPR89B RNVU1-8 PDE4DIP ACP6 LOC100132057 RNVU1-1 LINC01138 NBPF12 LOC101927468 NUDT4P2 PDIA3P1 BCL9 RNVU1-3
nsv997330	Chr.1:147713804 - 147841832 on Build GRCh38	Gain	GJA5
nsv463506	Chr.1:147719707 - 147837308 on Build GRCh38	Gain	GJA5
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	LINC00624 LOC105371226 LOC100996763 FMO5 NBPF10 LOC100996517 NBPF13P RNU1-13P LOC284561 MIR6077 LOC728989 MIR5087 HYDIN2 NOTCH2NL PPIAL4G NBPF14 NUDT4P1 NBPF11 GJA8 LOC105371242 PRKAB2 LOC100505824 CH17-408M7.1 RNVU1-7 GJA5 PDZK1P1 CHD1L GPR89B RNVU1-8 LOC101928979 PDE4DIP ACP6 LOC100132057 RNVU1-1 LINC01138 NBPF12 LOC101927468 NUDT4P2 PDIA3P1 BCL9 RNVU1-3 RNVU1-6
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	ACP6 GJA5 BCL9
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	LINC00624 LOC105371226 LOC100996763 FMO5 NBPF10 LOC100996517 NBPF13P RNU1-13P LOC284561 MIR6077 LOC728989 MIR5087 HYDIN2 NOTCH2NL PPIAL4G NBPF14 NUDT4P1 NBPF11 GJA8 LOC105371242 PRKAB2 LOC100505824 CH17-408M7.1 RNVU1-7 GJA5 PDZK1P1 CHD1L GPR89B RNVU1-8 LOC101928979 PDE4DIP ACP6 LOC100132057 RNVU1-1 LINC01138 NBPF9 NBPF12 LOC101927468 NUDT4P2 PDIA3P1 BCL9 RNVU1-3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

skeletal system development
angiogenesis
negative regulation of glomerular filtration
outflow tract morphogenesis
endothelium development
cardiac conduction system development
mitral valve development
pulmonary valve formation
ventricular septum development
atrial septum development
septum primum development
atrial ventricular junction remodeling
potassium ion transport
cell communication by chemical coupling
positive regulation of cell communication by chemical coupling
gap junction assembly
embryonic limb morphogenesis
embryonic heart tube development
foramen ovale closure
negative regulation of blood pressure
positive regulation of vasoconstriction
positive regulation of vasodilation
artery morphogenesis
protein oligomerization
transmembrane transport
regulation of cardiac muscle contraction
regulation of ventricular cardiac muscle cell membrane repolarization
regulation of atrial cardiac muscle cell membrane depolarization
regulation of ventricular cardiac muscle cell membrane depolarization
ventricular septum morphogenesis
atrial septum morphogenesis
ventricular cardiac muscle cell action potential
SA node cell action potential
AV node cell to bundle of His cell communication by electrical coupling
bundle of His cell to Purkinje myocyte communication by electrical coupling
cell communication by electrical coupling involved in cardiac conduction
regulation of heart rate by cardiac conduction
regulation of AV node cell action potential
regulation of bundle of His cell action potential
regulation of Purkinje myocyte action potential
regulation of atrial cardiac muscle cell action potential
regulation of renin secretion into blood stream
regulation of membrane depolarization during cardiac muscle cell action potential
vasomotion

Function(s)

gap junction hemi-channel activity
connexin binding
gap junction channel activity involved in cardiac conduction electrical coupling
gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling