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
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	LOC728989 LOC100996517 LOC284561 LOC101927468 CHD1L BCL9 ACP6 LOC100996763 NBPF10 PRKAB2 LINC00624 RNVU1-3 LOC101928979 RNVU1-8 GJA5 PDE4DIP CH17-408M7.1 PDZK1P1 RNVU1-1 LOC105371226 NOTCH2NL FMO5 LOC105371242 LOC100505824 RNVU1-6 NBPF11 RNU1-13P HYDIN2 NBPF13P NBPF14 MIR6077 NUDT4P2 LOC100132057 NUDT4P1 GPR89B RNVU1-7 MIR5087 PPIAL4G NBPF12 LINC01138 GJA8 PDIA3P1
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	LOC100996517 LOC284561 LOC101927468 TXNIP CD160 CHD1L ACP6 LOC100996763 NBPF10 LINC00624 RNVU1-8 PEX11B ANKRD34A POLR3C CH17-408M7.1 PDZK1P1 GNRHR2 LOC105371226 NOTCH2NL LOC100505824 HYDIN2 RNF115 ITGA10 LOC100132057 NUDT4P1 GPR89B ANKRD35 PDIA3P1 LOC728989 HFE2 BCL9 MIR6736 PRKAB2 GPR89A RNVU1-3 LOC101928979 GJA5 PDE4DIP POLR3GL PIAS3 RNVU1-1 FMO5 LOC105371242 RNVU1-6 NBPF11 RNU1-13P RBM8A NBPF13P LIX1L PDZK1 NBPF14 MIR6077 NUDT4P2 NUDT17 RNVU1-7 MIR5087 PPIAL4G NBPF12 LINC01138 GJA8
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	LOC728989 LOC100996517 LOC284561 LOC101927468 CHD1L BCL9 ACP6 LOC100996763 NBPF10 PRKAB2 LINC00624 RNVU1-3 RNVU1-8 GJA5 PDE4DIP CH17-408M7.1 PDZK1P1 RNVU1-1 LOC105371226 NOTCH2NL FMO5 LOC105371242 LOC100505824 NBPF11 RNU1-13P HYDIN2 NBPF13P NBPF14 MIR6077 NUDT4P2 LOC100132057 NUDT4P1 GPR89B RNVU1-7 MIR5087 PPIAL4G NBPF12 LINC01138 GJA8 PDIA3P1
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	LOC728989 HFE2 LOC100996517 LOC284561 LOC101927468 TXNIP CHD1L BCL9 ACP6 LOC100996763 NBPF10 PRKAB2 LINC00624 RNVU1-3 LOC101928979 RNVU1-8 GJA5 PDE4DIP ANKRD34A POLR3GL CH17-408M7.1 PDZK1P1 RNVU1-1 LOC105371226 NOTCH2NL FMO5 LOC105371242 LOC100505824 RNVU1-6 NBPF11 RNU1-13P HYDIN2 NBPF13P LIX1L NBPF14 MIR6077 NUDT4P2 LOC100132057 NUDT4P1 GPR89B RNVU1-7 MIR5087 PPIAL4G NBPF12 LINC01138 GJA8 PDIA3P1
nsv831437	Chr.1:147762499 - 147920878 on Build GRCh38	Loss	GJA5 GJA8
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	LOC728989 LOC100996517 LOC284561 LOC101927468 CHD1L BCL9 ACP6 LOC100996763 PRKAB2 LINC00624 RNVU1-3 RNVU1-8 GJA5 PDE4DIP CH17-408M7.1 PDZK1P1 RNVU1-1 LOC105371226 NOTCH2NL FMO5 LOC105371242 LOC100505824 NBPF11 RNU1-13P HYDIN2 NBPF13P NBPF14 MIR6077 NUDT4P2 LOC100132057 NUDT4P1 GPR89B RNVU1-7 MIR5087 PPIAL4G NBPF12 LINC01138 GJA8 PDIA3P1
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	GJA5 BCL9 ACP6
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	LOC728989 LOC100996517 LOC284561 LOC101927468 CHD1L BCL9 ACP6 LOC100996763 NBPF10 PRKAB2 LINC00624 RNVU1-3 LOC101928979 RNVU1-8 GJA5 PDE4DIP CH17-408M7.1 PDZK1P1 RNVU1-1 LOC105371226 NOTCH2NL FMO5 LOC105371242 LOC100505824 RNVU1-6 NBPF11 RNU1-13P HYDIN2 NBPF13P NBPF14 MIR6077 NUDT4P2 LOC100132057 NUDT4P1 GPR89B RNVU1-7 MIR5087 PPIAL4G NBPF12 LINC01138 GJA8 PDIA3P1
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	LOC728989 LOC100996517 LOC284561 LOC101927468 CHD1L BCL9 ACP6 LOC100996763 NBPF10 PRKAB2 LINC00624 RNVU1-3 LOC101928979 RNVU1-8 GJA5 PDE4DIP CH17-408M7.1 PDZK1P1 RNVU1-1 LOC105371226 NOTCH2NL FMO5 LOC105371242 LOC100505824 NBPF11 RNU1-13P HYDIN2 NBPF13P NBPF9 NBPF14 MIR6077 NUDT4P2 LOC100132057 NUDT4P1 GPR89B RNVU1-7 MIR5087 PPIAL4G NBPF12 LINC01138 GJA8 PDIA3P1

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