Hs05797819_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147764925 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	RNVU1-6 NBPF11 LOC105371242 NBPF13P NUDT4P1 MIR5087 LOC284561 MIR6736 GJA5 GNRHR2 ANKRD35 FMO5 RNVU1-1 LOC728989 POLR3C HFE2 TXNIP LINC01138 ANKRD34A PIAS3 LINC00624 POLR3GL HYDIN2 MIR6077 RNVU1-7 NUDT17 LOC100996763 BCL9 CH17-408M7.1 NUDT4P2 ITGA10 NBPF12 NBPF14 GPR89B NBPF10 PDZK1P1 PDE4DIP LOC100132057 LOC100505824 GJA8 RNF115 RNVU1-8 LOC100996517 LOC101928979 LOC101927468 PDIA3P1 PDZK1 GPR89A PRKAB2 RBM8A PPIAL4G CD160 PEX11B RNU1-13P LIX1L RNVU1-3 LOC105371226 CHD1L NOTCH2NL ACP6
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	RNVU1-6 RNVU1-7 LOC100996763 BCL9 NBPF11 CH17-408M7.1 NUDT4P2 LOC105371242 NBPF12 NBPF14 GPR89B NBPF10 NBPF13P NUDT4P1 PDZK1P1 MIR5087 LOC284561 GJA5 PDE4DIP LOC100132057 FMO5 LOC100505824 GJA8 RNVU1-8 LOC100996517 RNVU1-1 LOC101928979 LOC101927468 PDIA3P1 LOC728989 LINC01138 PRKAB2 PPIAL4G LINC00624 RNU1-13P RNVU1-3 LOC105371226 CHD1L NOTCH2NL HYDIN2 ACP6 MIR6077
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	RNVU1-7 LOC100996763 BCL9 NBPF11 CH17-408M7.1 NUDT4P2 LOC105371242 NBPF12 NBPF14 GPR89B NBPF10 NBPF13P NUDT4P1 PDZK1P1 MIR5087 LOC284561 GJA5 PDE4DIP LOC100132057 FMO5 LOC100505824 GJA8 RNVU1-8 LOC100996517 RNVU1-1 LOC101927468 PDIA3P1 LOC728989 LINC01138 PRKAB2 PPIAL4G LINC00624 RNU1-13P RNVU1-3 LOC105371226 CHD1L NOTCH2NL HYDIN2 ACP6 MIR6077
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	RNVU1-6 RNVU1-7 LOC100996763 BCL9 NBPF11 CH17-408M7.1 NUDT4P2 LOC105371242 NBPF12 NBPF14 GPR89B NBPF10 NBPF13P NUDT4P1 PDZK1P1 MIR5087 LOC284561 GJA5 PDE4DIP LOC100132057 FMO5 LOC100505824 GJA8 RNVU1-8 LOC100996517 RNVU1-1 LOC101928979 LOC101927468 PDIA3P1 LOC728989 HFE2 TXNIP LINC01138 ANKRD34A PRKAB2 PPIAL4G LINC00624 RNU1-13P LIX1L POLR3GL RNVU1-3 LOC105371226 CHD1L NOTCH2NL HYDIN2 ACP6 MIR6077
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	RNVU1-7 LOC100996763 BCL9 NBPF11 CH17-408M7.1 NUDT4P2 LOC105371242 NBPF12 NBPF14 GPR89B NBPF13P NUDT4P1 PDZK1P1 MIR5087 LOC284561 GJA5 PDE4DIP LOC100132057 FMO5 LOC100505824 GJA8 RNVU1-8 LOC100996517 RNVU1-1 LOC101927468 PDIA3P1 LOC728989 LINC01138 PRKAB2 PPIAL4G LINC00624 RNU1-13P RNVU1-3 LOC105371226 CHD1L NOTCH2NL HYDIN2 ACP6 MIR6077
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	RNVU1-6 RNVU1-7 LOC100996763 BCL9 NBPF11 CH17-408M7.1 NUDT4P2 LOC105371242 NBPF12 NBPF14 GPR89B NBPF10 NBPF13P NUDT4P1 PDZK1P1 MIR5087 LOC284561 GJA5 PDE4DIP LOC100132057 FMO5 LOC100505824 GJA8 RNVU1-8 LOC100996517 RNVU1-1 LOC101928979 LOC101927468 PDIA3P1 LOC728989 LINC01138 PRKAB2 PPIAL4G LINC00624 RNU1-13P RNVU1-3 LOC105371226 CHD1L NOTCH2NL HYDIN2 ACP6 MIR6077
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	BCL9 GJA5 ACP6
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	RNVU1-7 LOC100996763 BCL9 NBPF11 CH17-408M7.1 NUDT4P2 LOC105371242 NBPF12 NBPF14 GPR89B NBPF10 NBPF13P NUDT4P1 PDZK1P1 MIR5087 LOC284561 GJA5 PDE4DIP LOC100132057 FMO5 LOC100505824 GJA8 RNVU1-8 LOC100996517 RNVU1-1 LOC101928979 LOC101927468 PDIA3P1 LOC728989 LINC01138 PRKAB2 PPIAL4G LINC00624 RNU1-13P RNVU1-3 LOC105371226 CHD1L NOTCH2NL HYDIN2 NBPF9 ACP6 MIR6077

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