Hs05777430_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147771897 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
esv3894123	Chr.1:147766386 - 147903855 on Build GRCh38	Gain	GJA5 GJA8
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	NUDT4P2 GJA5 RBM8A PIAS3 NBPF14 RNF115 RNVU1-3 NUDT4P1 RNVU1-8 ANKRD34A CD160 LIX1L RNU1-13P LOC728989 ITGA10 NBPF13P MIR6736 RNVU1-1 LOC100996763 LINC01138 NUDT17 LOC284561 NBPF11 PDZK1 MIR6077 NOTCH2NL POLR3C FMO5 GNRHR2 LOC105371242 LINC00624 RNVU1-6 MIR5087 ACP6 LOC100996517 LOC100505824 POLR3GL ANKRD35 LOC105371226 PDE4DIP CH17-408M7.1 PPIAL4G LOC101927468 LOC101928979 RNVU1-7 PDIA3P1 LOC100132057 PRKAB2 NBPF12 GJA8 CHD1L HFE2 TXNIP GPR89A NBPF10 PEX11B GPR89B HYDIN2 BCL9 PDZK1P1
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	NUDT4P2 LINC00624 RNVU1-6 GJA5 MIR5087 NBPF14 ACP6 LOC100996517 RNVU1-3 LOC100505824 NUDT4P1 RNVU1-8 LOC105371226 PDE4DIP RNU1-13P LOC728989 CH17-408M7.1 PPIAL4G LOC101927468 NBPF13P LOC101928979 RNVU1-1 RNVU1-7 PDIA3P1 LOC100132057 PRKAB2 NBPF12 LOC100996763 GJA8 CHD1L LINC01138 NBPF10 LOC284561 NBPF11 GPR89B MIR6077 NOTCH2NL HYDIN2 FMO5 LOC105371242 BCL9 PDZK1P1
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	NUDT4P2 LINC00624 GJA5 MIR5087 NBPF14 ACP6 LOC100996517 RNVU1-3 LOC100505824 NUDT4P1 RNVU1-8 LOC105371226 PDE4DIP RNU1-13P LOC728989 CH17-408M7.1 PPIAL4G LOC101927468 NBPF13P RNVU1-1 RNVU1-7 PDIA3P1 LOC100132057 PRKAB2 NBPF12 LOC100996763 GJA8 CHD1L LINC01138 NBPF10 LOC284561 NBPF11 GPR89B MIR6077 NOTCH2NL HYDIN2 FMO5 LOC105371242 BCL9 PDZK1P1
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	NUDT4P2 LINC00624 RNVU1-6 GJA5 MIR5087 NBPF14 ACP6 LOC100996517 RNVU1-3 LOC100505824 NUDT4P1 POLR3GL RNVU1-8 ANKRD34A LOC105371226 LIX1L PDE4DIP RNU1-13P LOC728989 CH17-408M7.1 PPIAL4G LOC101927468 NBPF13P LOC101928979 RNVU1-1 RNVU1-7 PDIA3P1 LOC100132057 PRKAB2 NBPF12 LOC100996763 GJA8 CHD1L LINC01138 HFE2 TXNIP NBPF10 LOC284561 NBPF11 GPR89B MIR6077 NOTCH2NL HYDIN2 FMO5 LOC105371242 BCL9 PDZK1P1
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	NUDT4P2 LINC00624 GJA5 MIR5087 NBPF14 ACP6 LOC100996517 RNVU1-3 LOC100505824 NUDT4P1 RNVU1-8 LOC105371226 PDE4DIP RNU1-13P LOC728989 CH17-408M7.1 PPIAL4G LOC101927468 NBPF13P RNVU1-1 RNVU1-7 PDIA3P1 LOC100132057 PRKAB2 NBPF12 LOC100996763 GJA8 CHD1L LINC01138 LOC284561 NBPF11 GPR89B MIR6077 NOTCH2NL HYDIN2 FMO5 LOC105371242 BCL9 PDZK1P1
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	NUDT4P2 LINC00624 RNVU1-6 GJA5 MIR5087 NBPF14 ACP6 LOC100996517 RNVU1-3 LOC100505824 NUDT4P1 RNVU1-8 LOC105371226 PDE4DIP RNU1-13P LOC728989 CH17-408M7.1 PPIAL4G LOC101927468 NBPF13P LOC101928979 RNVU1-1 RNVU1-7 PDIA3P1 LOC100132057 PRKAB2 NBPF12 LOC100996763 GJA8 CHD1L LINC01138 NBPF10 LOC284561 NBPF11 GPR89B MIR6077 NOTCH2NL HYDIN2 FMO5 LOC105371242 BCL9 PDZK1P1
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	GJA5 ACP6 BCL9
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	NUDT4P2 LINC00624 GJA5 MIR5087 NBPF9 NBPF14 ACP6 LOC100996517 RNVU1-3 LOC100505824 NUDT4P1 RNVU1-8 LOC105371226 PDE4DIP RNU1-13P LOC728989 CH17-408M7.1 PPIAL4G LOC101927468 NBPF13P LOC101928979 RNVU1-1 RNVU1-7 PDIA3P1 LOC100132057 PRKAB2 NBPF12 LOC100996763 GJA8 CHD1L LINC01138 NBPF10 LOC284561 NBPF11 GPR89B MIR6077 NOTCH2NL HYDIN2 FMO5 LOC105371242 BCL9 PDZK1P1

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