Hs05716874_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147761520 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	1129	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
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	PDZK1P1 LOC100996763 ACP6 NBPF13P NBPF11 LOC105371242 BCL9 CH17-408M7.1 NOTCH2NL CHD1L NBPF10 LOC100996517 GJA8 RNVU1-7 RNVU1-8 PDIA3P1 LINC00624 NUDT4P2 RNVU1-1 MIR5087 NBPF12 LINC01138 GPR89B RNU1-13P NBPF14 LOC101928979 PRKAB2 GJA5 LOC101927468 PPIAL4G PDE4DIP HYDIN2 MIR6077 LOC105371226 LOC284561 RNVU1-3 NUDT4P1 FMO5 LOC100505824 LOC100132057 RNVU1-6 LOC728989
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	PDZK1P1 LOC100996763 ANKRD34A ANKRD35 NBPF13P NBPF11 CHD1L NBPF10 PDIA3P1 LINC00624 NUDT4P2 GPR89B RNU1-13P GNRHR2 PRKAB2 LOC101927468 PPIAL4G POLR3C PDE4DIP RBM8A NUDT4P1 TXNIP RNVU1-6 LOC728989 PIAS3 ACP6 RNF115 PDZK1 LOC105371242 BCL9 CH17-408M7.1 NOTCH2NL LOC100996517 GJA8 RNVU1-7 RNVU1-8 HFE2 CD160 RNVU1-1 MIR5087 NBPF12 LINC01138 NBPF14 LOC101928979 GPR89A LIX1L MIR6736 GJA5 HYDIN2 MIR6077 LOC105371226 LOC284561 RNVU1-3 FMO5 LOC100505824 POLR3GL PEX11B LOC100132057 NUDT17 ITGA10
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	PDZK1P1 LOC100996763 ACP6 NBPF13P NBPF11 LOC105371242 BCL9 CH17-408M7.1 NOTCH2NL CHD1L NBPF10 LOC100996517 GJA8 RNVU1-7 RNVU1-8 PDIA3P1 LINC00624 NUDT4P2 RNVU1-1 MIR5087 NBPF12 LINC01138 GPR89B RNU1-13P NBPF14 PRKAB2 GJA5 LOC101927468 PPIAL4G PDE4DIP HYDIN2 MIR6077 LOC105371226 LOC284561 RNVU1-3 NUDT4P1 FMO5 LOC100505824 LOC100132057 LOC728989
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	PDZK1P1 LOC100996763 ACP6 ANKRD34A NBPF13P NBPF11 LOC105371242 BCL9 CH17-408M7.1 NOTCH2NL CHD1L NBPF10 LOC100996517 GJA8 RNVU1-7 RNVU1-8 PDIA3P1 LINC00624 NUDT4P2 HFE2 RNVU1-1 MIR5087 NBPF12 LINC01138 GPR89B RNU1-13P NBPF14 LOC101928979 LIX1L PRKAB2 GJA5 LOC101927468 PPIAL4G PDE4DIP HYDIN2 MIR6077 LOC105371226 LOC284561 RNVU1-3 NUDT4P1 FMO5 LOC100505824 POLR3GL LOC100132057 TXNIP RNVU1-6 LOC728989
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	PDZK1P1 LOC100996763 ACP6 NBPF13P NBPF11 LOC105371242 BCL9 CH17-408M7.1 NOTCH2NL CHD1L LOC100996517 GJA8 RNVU1-7 RNVU1-8 PDIA3P1 LINC00624 NUDT4P2 RNVU1-1 MIR5087 NBPF12 LINC01138 GPR89B RNU1-13P NBPF14 PRKAB2 GJA5 LOC101927468 PPIAL4G PDE4DIP HYDIN2 MIR6077 LOC105371226 LOC284561 RNVU1-3 NUDT4P1 FMO5 LOC100505824 LOC100132057 LOC728989
nsv547677	Chr.1:147719707 - 147837308 on Build GRCh38	Gain	GJA5
nsv997330	Chr.1:147713804 - 147841832 on Build GRCh38	Gain	GJA5
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	ACP6 BCL9 GJA5
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	PDZK1P1 LOC100996763 ACP6 NBPF13P NBPF11 LOC105371242 BCL9 CH17-408M7.1 NOTCH2NL CHD1L NBPF10 LOC100996517 GJA8 RNVU1-7 RNVU1-8 PDIA3P1 LINC00624 NUDT4P2 RNVU1-1 MIR5087 NBPF12 LINC01138 GPR89B RNU1-13P NBPF14 LOC101928979 PRKAB2 GJA5 LOC101927468 PPIAL4G PDE4DIP HYDIN2 MIR6077 LOC105371226 LOC284561 RNVU1-3 NUDT4P1 FMO5 LOC100505824 LOC100132057 RNVU1-6 LOC728989
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	PDZK1P1 LOC100996763 ACP6 NBPF13P NBPF11 LOC105371242 BCL9 CH17-408M7.1 NOTCH2NL CHD1L NBPF10 NBPF9 LOC100996517 GJA8 RNVU1-7 RNVU1-8 PDIA3P1 LINC00624 NUDT4P2 RNVU1-1 MIR5087 NBPF12 LINC01138 GPR89B RNU1-13P NBPF14 LOC101928979 PRKAB2 GJA5 LOC101927468 PPIAL4G PDE4DIP HYDIN2 MIR6077 LOC105371226 LOC284561 RNVU1-3 NUDT4P1 FMO5 LOC100505824 LOC100132057 LOC728989

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