Hs04529350_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147764266 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 Intron 2

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			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	PDZK1 NBPF12 CD160 RBM8A ACP6 LINC00624 RNF115 FMO5 LIX1L GJA8 LOC105371226 HYDIN2 LOC100505824 LOC728989 CHD1L RNVU1-8 NUDT17 MIR6077 PEX11B NBPF11 CH17-408M7.1 LOC101927468 LOC100132057 NOTCH2NL GNRHR2 PPIAL4G RNVU1-3 RNU1-13P PIAS3 PDIA3P1 PDZK1P1 BCL9 HFE2 ANKRD35 ANKRD34A TXNIP NBPF10 LOC101928979 RNVU1-7 LOC100996517 LOC100996763 NUDT4P1 NBPF14 NUDT4P2 MIR5087 GJA5 POLR3C RNVU1-1 MIR6736 PDE4DIP NBPF13P ITGA10 GPR89B LOC105371242 RNVU1-6 LOC284561 LINC01138 POLR3GL GPR89A PRKAB2
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	NBPF12 NOTCH2NL PPIAL4G RNVU1-3 RNU1-13P ACP6 PDIA3P1 PDZK1P1 LINC00624 BCL9 FMO5 NBPF10 LOC101928979 RNVU1-7 GJA8 LOC100996517 LOC100996763 LOC105371226 NUDT4P1 NBPF14 HYDIN2 LOC100505824 NUDT4P2 MIR5087 LOC728989 GJA5 CHD1L RNVU1-8 RNVU1-1 MIR6077 PDE4DIP NBPF13P GPR89B LOC105371242 RNVU1-6 LOC284561 LINC01138 NBPF11 CH17-408M7.1 LOC101927468 LOC100132057 PRKAB2
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	NBPF12 NOTCH2NL PPIAL4G RNVU1-3 RNU1-13P ACP6 PDIA3P1 PDZK1P1 LINC00624 BCL9 FMO5 NBPF10 RNVU1-7 GJA8 LOC100996517 LOC100996763 LOC105371226 NUDT4P1 NBPF14 HYDIN2 LOC100505824 NUDT4P2 MIR5087 LOC728989 GJA5 CHD1L RNVU1-8 RNVU1-1 MIR6077 PDE4DIP NBPF13P GPR89B LOC105371242 LOC284561 LINC01138 NBPF11 CH17-408M7.1 LOC101927468 LOC100132057 PRKAB2
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	NBPF12 NOTCH2NL PPIAL4G RNVU1-3 RNU1-13P ACP6 PDIA3P1 PDZK1P1 LINC00624 BCL9 HFE2 ANKRD34A FMO5 TXNIP NBPF10 LOC101928979 RNVU1-7 LIX1L GJA8 LOC100996517 LOC100996763 LOC105371226 NUDT4P1 NBPF14 HYDIN2 LOC100505824 NUDT4P2 MIR5087 LOC728989 GJA5 CHD1L RNVU1-8 RNVU1-1 MIR6077 PDE4DIP NBPF13P GPR89B LOC105371242 RNVU1-6 LOC284561 LINC01138 NBPF11 CH17-408M7.1 POLR3GL LOC101927468 LOC100132057 PRKAB2
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	NBPF12 NOTCH2NL PPIAL4G RNVU1-3 RNU1-13P ACP6 PDIA3P1 PDZK1P1 LINC00624 BCL9 FMO5 RNVU1-7 GJA8 LOC100996517 LOC100996763 LOC105371226 NUDT4P1 NBPF14 HYDIN2 LOC100505824 NUDT4P2 MIR5087 LOC728989 GJA5 CHD1L RNVU1-8 RNVU1-1 MIR6077 PDE4DIP NBPF13P GPR89B LOC105371242 LOC284561 LINC01138 NBPF11 CH17-408M7.1 LOC101927468 LOC100132057 PRKAB2
nsv831437	Chr.1:147762499 - 147920878 on Build GRCh38	Loss	GJA5 GJA8
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	NBPF12 NOTCH2NL PPIAL4G RNVU1-3 RNU1-13P ACP6 PDIA3P1 PDZK1P1 LINC00624 BCL9 FMO5 NBPF10 LOC101928979 RNVU1-7 GJA8 LOC100996517 LOC100996763 LOC105371226 NUDT4P1 NBPF14 HYDIN2 LOC100505824 NUDT4P2 MIR5087 LOC728989 GJA5 CHD1L RNVU1-8 RNVU1-1 MIR6077 PDE4DIP NBPF13P GPR89B LOC105371242 RNVU1-6 LOC284561 LINC01138 NBPF11 CH17-408M7.1 LOC101927468 LOC100132057 PRKAB2
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	GJA5 ACP6 BCL9
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	NBPF12 NOTCH2NL PPIAL4G RNVU1-3 RNU1-13P ACP6 PDIA3P1 PDZK1P1 LINC00624 BCL9 FMO5 NBPF10 LOC101928979 RNVU1-7 GJA8 LOC100996517 LOC100996763 LOC105371226 NUDT4P1 NBPF14 HYDIN2 LOC100505824 NUDT4P2 MIR5087 LOC728989 GJA5 CHD1L RNVU1-8 RNVU1-1 MIR6077 PDE4DIP NBPF13P GPR89B LOC105371242 NBPF9 LOC284561 LINC01138 NBPF11 CH17-408M7.1 LOC101927468 LOC100132057 PRKAB2

More Information

• Set Membership: Intragenic, Intronic, Non-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