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

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