Hs05738467_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147763583 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	LOC100132057 POLR3GL NBPF11 FMO5 GPR89A RNVU1-1 LIX1L NUDT4P1 NUDT4P2 LOC101928979 PDZK1P1 NBPF14 PRKAB2 LINC00624 PDZK1 HYDIN2 MIR5087 BCL9 LOC105371242 PIAS3 CD160 LOC100996517 RBM8A ANKRD35 RNF115 NOTCH2NL ANKRD34A CH17-408M7.1 RNU1-13P RNVU1-6 MIR6077 GJA5 GPR89B NBPF13P LOC101927468 GJA8 NBPF10 MIR6736 RNVU1-8 PPIAL4G RNVU1-7 PDIA3P1 LOC728989 ITGA10 POLR3C LOC100505824 PEX11B CHD1L LOC100996763 HFE2 GNRHR2 LOC105371226 LINC01138 NBPF12 TXNIP RNVU1-3 PDE4DIP LOC284561 ACP6 NUDT17
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	LOC100132057 LOC101927468 NBPF11 FMO5 GJA8 NBPF10 RNVU1-8 PPIAL4G RNVU1-1 NUDT4P1 NUDT4P2 RNVU1-7 PDIA3P1 LOC728989 LOC101928979 LOC100505824 PDZK1P1 CHD1L NBPF14 LOC100996763 PRKAB2 LINC00624 HYDIN2 MIR5087 BCL9 LOC105371242 LOC105371226 LOC100996517 LINC01138 NBPF12 NOTCH2NL RNVU1-3 CH17-408M7.1 PDE4DIP RNU1-13P LOC284561 RNVU1-6 MIR6077 GJA5 GPR89B ACP6 NBPF13P
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	LOC100132057 LOC101927468 NBPF11 FMO5 GJA8 NBPF10 RNVU1-8 PPIAL4G RNVU1-1 NUDT4P1 NUDT4P2 RNVU1-7 PDIA3P1 LOC728989 LOC100505824 PDZK1P1 CHD1L NBPF14 LOC100996763 PRKAB2 LINC00624 HYDIN2 MIR5087 BCL9 LOC105371242 LOC105371226 LOC100996517 LINC01138 NBPF12 NOTCH2NL RNVU1-3 CH17-408M7.1 PDE4DIP RNU1-13P LOC284561 MIR6077 GJA5 GPR89B ACP6 NBPF13P
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	LOC100132057 POLR3GL LOC101927468 NBPF11 FMO5 GJA8 NBPF10 RNVU1-8 PPIAL4G RNVU1-1 LIX1L NUDT4P1 NUDT4P2 RNVU1-7 PDIA3P1 LOC728989 LOC101928979 LOC100505824 PDZK1P1 CHD1L NBPF14 LOC100996763 PRKAB2 HFE2 LINC00624 HYDIN2 MIR5087 BCL9 LOC105371242 LOC105371226 LOC100996517 LINC01138 NBPF12 TXNIP NOTCH2NL ANKRD34A RNVU1-3 CH17-408M7.1 PDE4DIP RNU1-13P LOC284561 RNVU1-6 MIR6077 GJA5 GPR89B ACP6 NBPF13P
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	LOC100132057 LOC101927468 NBPF11 FMO5 GJA8 RNVU1-8 PPIAL4G RNVU1-1 NUDT4P1 NUDT4P2 RNVU1-7 PDIA3P1 LOC728989 LOC100505824 PDZK1P1 CHD1L NBPF14 LOC100996763 PRKAB2 LINC00624 HYDIN2 MIR5087 BCL9 LOC105371242 LOC105371226 LOC100996517 LINC01138 NBPF12 NOTCH2NL RNVU1-3 CH17-408M7.1 PDE4DIP RNU1-13P LOC284561 MIR6077 GJA5 GPR89B ACP6 NBPF13P
nsv831437	Chr.1:147762499 - 147920878 on Build GRCh38	Loss	GJA8 GJA5
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	LOC100132057 LOC101927468 NBPF11 FMO5 GJA8 NBPF10 RNVU1-8 PPIAL4G RNVU1-1 NUDT4P1 NUDT4P2 RNVU1-7 PDIA3P1 LOC728989 LOC101928979 LOC100505824 PDZK1P1 CHD1L NBPF14 LOC100996763 PRKAB2 LINC00624 HYDIN2 MIR5087 BCL9 LOC105371242 LOC105371226 LOC100996517 LINC01138 NBPF12 NOTCH2NL RNVU1-3 CH17-408M7.1 PDE4DIP RNU1-13P LOC284561 RNVU1-6 MIR6077 GJA5 GPR89B ACP6 NBPF13P
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	BCL9 GJA5 ACP6
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	LOC100132057 LOC101927468 NBPF11 FMO5 GJA8 NBPF10 NBPF9 RNVU1-8 PPIAL4G RNVU1-1 NUDT4P1 NUDT4P2 RNVU1-7 PDIA3P1 LOC728989 LOC101928979 LOC100505824 PDZK1P1 CHD1L NBPF14 LOC100996763 PRKAB2 LINC00624 HYDIN2 MIR5087 BCL9 LOC105371242 LOC105371226 LOC100996517 LINC01138 NBPF12 NOTCH2NL RNVU1-3 CH17-408M7.1 PDE4DIP RNU1-13P LOC284561 MIR6077 GJA5 GPR89B ACP6 NBPF13P

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