Hs05791838_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147769155 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	CD160 LOC728989 CHD1L LOC100505824 TXNIP LIX1L ANKRD35 MIR5087 LOC105371226 NBPF13P NBPF10 GJA8 RNU1-13P PPIAL4G RNVU1-1 RNVU1-6 NUDT17 LINC00624 BCL9 PDZK1P1 GPR89A GPR89B LOC101927468 LOC101928979 PEX11B NBPF11 PDZK1 LOC100996517 RNVU1-7 NOTCH2NL NBPF14 GJA5 LOC284561 PRKAB2 RNF115 ACP6 RNVU1-8 LOC100132057 RNVU1-3 POLR3GL LINC01138 LOC100996763 FMO5 ANKRD34A NBPF12 POLR3C PDE4DIP RBM8A LOC105371242 HYDIN2 MIR6736 PIAS3 MIR6077 CH17-408M7.1 ITGA10 GNRHR2 HFE2 NUDT4P1 PDIA3P1 NUDT4P2
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	NBPF14 GJA5 LOC284561 PRKAB2 ACP6 LOC728989 RNVU1-8 CHD1L LOC100132057 RNVU1-3 LOC100505824 LINC01138 LOC100996763 FMO5 NBPF12 PDE4DIP LOC105371242 HYDIN2 MIR5087 LOC105371226 NBPF13P NBPF10 GJA8 RNU1-13P PPIAL4G RNVU1-1 MIR6077 RNVU1-6 LINC00624 CH17-408M7.1 BCL9 PDZK1P1 NUDT4P1 PDIA3P1 GPR89B LOC101927468 LOC101928979 NUDT4P2 NBPF11 LOC100996517 RNVU1-7 NOTCH2NL
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	NBPF14 GJA5 LOC284561 PRKAB2 ACP6 LOC728989 RNVU1-8 CHD1L LOC100132057 RNVU1-3 LOC100505824 LINC01138 LOC100996763 FMO5 NBPF12 PDE4DIP LOC105371242 HYDIN2 MIR5087 LOC105371226 NBPF13P NBPF10 GJA8 RNU1-13P PPIAL4G RNVU1-1 MIR6077 LINC00624 CH17-408M7.1 BCL9 PDZK1P1 NUDT4P1 PDIA3P1 GPR89B LOC101927468 NUDT4P2 NBPF11 LOC100996517 RNVU1-7 NOTCH2NL
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	NBPF14 GJA5 LOC284561 PRKAB2 ACP6 LOC728989 RNVU1-8 CHD1L LOC100132057 RNVU1-3 POLR3GL LOC100505824 LINC01138 LOC100996763 FMO5 TXNIP ANKRD34A NBPF12 PDE4DIP LOC105371242 LIX1L HYDIN2 MIR5087 LOC105371226 NBPF13P NBPF10 GJA8 RNU1-13P PPIAL4G RNVU1-1 MIR6077 RNVU1-6 LINC00624 CH17-408M7.1 BCL9 HFE2 PDZK1P1 NUDT4P1 PDIA3P1 GPR89B LOC101927468 LOC101928979 NUDT4P2 NBPF11 LOC100996517 RNVU1-7 NOTCH2NL
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	NBPF14 GJA5 LOC284561 PRKAB2 ACP6 LOC728989 RNVU1-8 CHD1L LOC100132057 RNVU1-3 LOC100505824 LINC01138 LOC100996763 FMO5 NBPF12 PDE4DIP LOC105371242 HYDIN2 MIR5087 LOC105371226 NBPF13P GJA8 RNU1-13P PPIAL4G RNVU1-1 MIR6077 LINC00624 CH17-408M7.1 BCL9 PDZK1P1 NUDT4P1 PDIA3P1 GPR89B LOC101927468 NUDT4P2 NBPF11 LOC100996517 RNVU1-7 NOTCH2NL
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	NBPF14 GJA5 LOC284561 PRKAB2 ACP6 LOC728989 RNVU1-8 CHD1L LOC100132057 RNVU1-3 LOC100505824 LINC01138 LOC100996763 FMO5 NBPF12 PDE4DIP LOC105371242 HYDIN2 MIR5087 LOC105371226 NBPF13P NBPF10 GJA8 RNU1-13P PPIAL4G RNVU1-1 MIR6077 RNVU1-6 LINC00624 CH17-408M7.1 BCL9 PDZK1P1 NUDT4P1 PDIA3P1 GPR89B LOC101927468 LOC101928979 NUDT4P2 NBPF11 LOC100996517 RNVU1-7 NOTCH2NL
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	GJA5 ACP6 BCL9
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	NBPF14 GJA5 LOC284561 NBPF9 PRKAB2 ACP6 LOC728989 RNVU1-8 CHD1L LOC100132057 RNVU1-3 LOC100505824 LINC01138 LOC100996763 FMO5 NBPF12 PDE4DIP LOC105371242 HYDIN2 MIR5087 LOC105371226 NBPF13P NBPF10 GJA8 RNU1-13P PPIAL4G RNVU1-1 MIR6077 LINC00624 CH17-408M7.1 BCL9 PDZK1P1 NUDT4P1 PDIA3P1 GPR89B LOC101927468 LOC101928979 NUDT4P2 NBPF11 LOC100996517 RNVU1-7 NOTCH2NL

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