Hs05784180_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147762630 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
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	LOC100505824 LOC284561 LOC105371226 PDZK1P1 NBPF14 LINC00624 LOC101927468 NUDT4P1 RNVU1-3 RNU1-13P NBPF11 GPR89B HYDIN2 LOC105371242 LOC101928979 RNVU1-1 LOC100996763 MIR6077 NOTCH2NL GJA5 RNVU1-8 CHD1L PDIA3P1 CH17-408M7.1 LOC100996517 PRKAB2 RNVU1-6 LOC728989 RNVU1-7 PPIAL4G FMO5 NBPF10 GJA8 PDE4DIP NUDT4P2 LOC100132057 NBPF13P NBPF12 LINC01138 MIR5087 BCL9 ACP6
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	POLR3C PIAS3 PDZK1P1 LOC101927468 NUDT4P1 RNVU1-3 RNU1-13P NBPF11 GPR89B LOC105371242 ANKRD35 LOC101928979 MIR6077 GJA5 RNVU1-8 RNF115 PDIA3P1 CH17-408M7.1 LOC100996517 PRKAB2 NUDT17 LIX1L ITGA10 GPR89A PPIAL4G GNRHR2 FMO5 PEX11B NBPF10 PDE4DIP NBPF12 LINC01138 BCL9 LOC100505824 LOC284561 LOC105371226 NBPF14 LINC00624 HYDIN2 ANKRD34A RNVU1-1 LOC100996763 NOTCH2NL HFE2 POLR3GL CHD1L TXNIP CD160 RNVU1-6 RBM8A LOC728989 RNVU1-7 MIR6736 PDZK1 GJA8 NUDT4P2 LOC100132057 NBPF13P MIR5087 ACP6
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	LOC100505824 LOC284561 LOC105371226 PDZK1P1 NBPF14 LINC00624 LOC101927468 NUDT4P1 RNVU1-3 RNU1-13P NBPF11 GPR89B HYDIN2 LOC105371242 RNVU1-1 LOC100996763 MIR6077 NOTCH2NL GJA5 RNVU1-8 CHD1L PDIA3P1 CH17-408M7.1 LOC100996517 PRKAB2 LOC728989 RNVU1-7 PPIAL4G FMO5 NBPF10 GJA8 PDE4DIP NUDT4P2 LOC100132057 NBPF13P NBPF12 LINC01138 MIR5087 BCL9 ACP6
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	LOC100505824 LOC284561 LOC105371226 PDZK1P1 NBPF14 LINC00624 LOC101927468 NUDT4P1 RNVU1-3 RNU1-13P NBPF11 GPR89B HYDIN2 ANKRD34A LOC105371242 LOC101928979 RNVU1-1 LOC100996763 MIR6077 NOTCH2NL HFE2 GJA5 RNVU1-8 POLR3GL CHD1L PDIA3P1 TXNIP CH17-408M7.1 LOC100996517 PRKAB2 LIX1L RNVU1-6 LOC728989 RNVU1-7 PPIAL4G FMO5 NBPF10 GJA8 PDE4DIP NUDT4P2 LOC100132057 NBPF13P NBPF12 LINC01138 MIR5087 BCL9 ACP6
nsv831437	Chr.1:147762499 - 147920878 on Build GRCh38	Loss	GJA8 GJA5
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	LOC100505824 LOC284561 LOC105371226 PDZK1P1 NBPF14 LINC00624 LOC101927468 NUDT4P1 RNVU1-3 RNU1-13P NBPF11 GPR89B HYDIN2 LOC105371242 RNVU1-1 LOC100996763 MIR6077 NOTCH2NL GJA5 RNVU1-8 CHD1L PDIA3P1 CH17-408M7.1 LOC100996517 PRKAB2 LOC728989 RNVU1-7 PPIAL4G FMO5 GJA8 PDE4DIP NUDT4P2 LOC100132057 NBPF13P NBPF12 LINC01138 MIR5087 BCL9 ACP6
nsv547677	Chr.1:147719707 - 147837308 on Build GRCh38	Gain	GJA5
nsv997330	Chr.1:147713804 - 147841832 on Build GRCh38	Gain	GJA5
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	BCL9 ACP6 GJA5
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	LOC100505824 LOC284561 LOC105371226 PDZK1P1 NBPF14 LINC00624 LOC101927468 NUDT4P1 RNVU1-3 RNU1-13P NBPF11 GPR89B HYDIN2 LOC105371242 LOC101928979 RNVU1-1 LOC100996763 MIR6077 NOTCH2NL GJA5 RNVU1-8 CHD1L PDIA3P1 CH17-408M7.1 LOC100996517 PRKAB2 RNVU1-6 LOC728989 RNVU1-7 PPIAL4G FMO5 NBPF10 GJA8 PDE4DIP NUDT4P2 LOC100132057 NBPF13P NBPF12 LINC01138 MIR5087 BCL9 ACP6
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	LOC100505824 LOC284561 LOC105371226 PDZK1P1 NBPF14 LINC00624 LOC101927468 NUDT4P1 RNVU1-3 RNU1-13P NBPF11 GPR89B HYDIN2 LOC105371242 LOC101928979 RNVU1-1 LOC100996763 MIR6077 NOTCH2NL GJA5 RNVU1-8 CHD1L PDIA3P1 CH17-408M7.1 LOC100996517 PRKAB2 NBPF9 LOC728989 RNVU1-7 PPIAL4G FMO5 NBPF10 GJA8 PDE4DIP NUDT4P2 LOC100132057 NBPF13P NBPF12 LINC01138 MIR5087 BCL9 ACP6

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