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

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