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

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