Hs04542773_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147768115 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	LINC00624 PDIA3P1 CH17-408M7.1 PDZK1 LOC284561 GPR89A RNF115 LINC01138 PIAS3 MIR5087 RNVU1-6 ACP6 PRKAB2 GPR89B MIR6077 MIR6736 LOC100996517 NBPF11 RNVU1-3 NBPF13P GJA8 NUDT17 LOC728989 LOC100132057 ANKRD34A LOC105371242 TXNIP CD160 PDE4DIP LIX1L RNVU1-8 GNRHR2 LOC101927468 LOC101928979 POLR3C PDZK1P1 RNU1-13P CHD1L ANKRD35 NUDT4P1 GJA5 LOC105371226 LOC100505824 HYDIN2 RBM8A NUDT4P2 ITGA10 BCL9 RNVU1-1 LOC100996763 RNVU1-7 PEX11B NBPF14 POLR3GL PPIAL4G NOTCH2NL NBPF12 FMO5 NBPF10 HFE2
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	RNVU1-8 LINC00624 PDIA3P1 LOC101927468 LOC101928979 CH17-408M7.1 LOC284561 PDZK1P1 RNU1-13P CHD1L LINC01138 MIR5087 RNVU1-6 NUDT4P1 GJA5 LOC105371226 ACP6 LOC100505824 PRKAB2 GPR89B HYDIN2 MIR6077 NUDT4P2 LOC100996517 NBPF11 RNVU1-3 NBPF13P BCL9 RNVU1-1 LOC100996763 GJA8 LOC728989 LOC100132057 RNVU1-7 NBPF14 PPIAL4G NOTCH2NL NBPF12 LOC105371242 FMO5 NBPF10 PDE4DIP
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	RNVU1-8 LINC00624 PDIA3P1 LOC101927468 CH17-408M7.1 LOC284561 PDZK1P1 RNU1-13P CHD1L LINC01138 MIR5087 NUDT4P1 GJA5 LOC105371226 ACP6 LOC100505824 PRKAB2 GPR89B HYDIN2 MIR6077 NUDT4P2 LOC100996517 NBPF11 RNVU1-3 NBPF13P BCL9 RNVU1-1 LOC100996763 GJA8 LOC728989 LOC100132057 RNVU1-7 NBPF14 PPIAL4G NOTCH2NL NBPF12 LOC105371242 FMO5 NBPF10 PDE4DIP
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	LIX1L RNVU1-8 LINC00624 PDIA3P1 LOC101927468 LOC101928979 CH17-408M7.1 LOC284561 PDZK1P1 RNU1-13P CHD1L LINC01138 MIR5087 RNVU1-6 NUDT4P1 GJA5 LOC105371226 ACP6 LOC100505824 PRKAB2 GPR89B HYDIN2 MIR6077 NUDT4P2 LOC100996517 NBPF11 RNVU1-3 NBPF13P BCL9 RNVU1-1 LOC100996763 GJA8 LOC728989 LOC100132057 RNVU1-7 NBPF14 POLR3GL PPIAL4G NOTCH2NL NBPF12 ANKRD34A LOC105371242 FMO5 TXNIP NBPF10 PDE4DIP HFE2
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	RNVU1-8 LINC00624 PDIA3P1 LOC101927468 CH17-408M7.1 LOC284561 PDZK1P1 RNU1-13P CHD1L LINC01138 MIR5087 NUDT4P1 GJA5 LOC105371226 ACP6 LOC100505824 PRKAB2 GPR89B HYDIN2 MIR6077 NUDT4P2 LOC100996517 NBPF11 RNVU1-3 NBPF13P BCL9 RNVU1-1 LOC100996763 GJA8 LOC728989 LOC100132057 RNVU1-7 NBPF14 PPIAL4G NOTCH2NL NBPF12 LOC105371242 FMO5 PDE4DIP
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	RNVU1-8 LINC00624 PDIA3P1 LOC101927468 LOC101928979 CH17-408M7.1 LOC284561 PDZK1P1 RNU1-13P CHD1L LINC01138 MIR5087 RNVU1-6 NUDT4P1 GJA5 LOC105371226 ACP6 LOC100505824 PRKAB2 GPR89B HYDIN2 MIR6077 NUDT4P2 LOC100996517 NBPF11 RNVU1-3 NBPF13P BCL9 RNVU1-1 LOC100996763 GJA8 LOC728989 LOC100132057 RNVU1-7 NBPF14 PPIAL4G NOTCH2NL NBPF12 LOC105371242 FMO5 NBPF10 PDE4DIP
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	GJA5 BCL9 ACP6
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	RNVU1-8 LINC00624 PDIA3P1 LOC101927468 LOC101928979 CH17-408M7.1 LOC284561 PDZK1P1 RNU1-13P CHD1L LINC01138 MIR5087 NUDT4P1 GJA5 LOC105371226 ACP6 LOC100505824 PRKAB2 GPR89B NBPF9 HYDIN2 MIR6077 NUDT4P2 LOC100996517 NBPF11 RNVU1-3 NBPF13P BCL9 RNVU1-1 LOC100996763 GJA8 LOC728989 LOC100132057 RNVU1-7 NBPF14 PPIAL4G NOTCH2NL NBPF12 LOC105371242 FMO5 NBPF10 PDE4DIP

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