Hs06525460_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147769879 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	RNVU1-8 CH17-408M7.1 NBPF11 PPIAL4G NBPF10 NBPF12 RNVU1-7 LINC01138 LOC100505824 BCL9 ITGA10 LOC100996763 LIX1L NBPF13P LOC100132057 PDIA3P1 LOC105371226 NUDT4P2 NBPF14 GPR89B NUDT4P1 RNVU1-6 LOC728989 CD160 PDZK1P1 CHD1L NOTCH2NL MIR6736 HFE2 TXNIP PEX11B PIAS3 GJA8 LOC100996517 PRKAB2 PDZK1 RNU1-13P LOC101928979 MIR6077 MIR5087 GNRHR2 RNVU1-1 ACP6 PDE4DIP NUDT17 LINC00624 GPR89A RNF115 RNVU1-3 RBM8A GJA5 HYDIN2 LOC105371242 ANKRD34A POLR3C FMO5 POLR3GL LOC101927468 LOC284561 ANKRD35
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	RNVU1-8 CH17-408M7.1 GJA8 NBPF11 LOC100996517 PPIAL4G PRKAB2 NBPF10 RNU1-13P NBPF12 RNVU1-7 LOC101928979 MIR6077 MIR5087 LINC01138 LOC100505824 BCL9 LOC100996763 RNVU1-1 NBPF13P ACP6 LOC100132057 PDIA3P1 LOC105371226 PDE4DIP NUDT4P2 LINC00624 RNVU1-3 NBPF14 GPR89B NUDT4P1 RNVU1-6 GJA5 LOC728989 HYDIN2 LOC105371242 PDZK1P1 FMO5 CHD1L LOC101927468 NOTCH2NL LOC284561
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	RNVU1-8 CH17-408M7.1 GJA8 NBPF11 LOC100996517 PPIAL4G PRKAB2 NBPF10 RNU1-13P NBPF12 RNVU1-7 MIR6077 MIR5087 LINC01138 LOC100505824 BCL9 LOC100996763 RNVU1-1 NBPF13P ACP6 LOC100132057 PDIA3P1 LOC105371226 PDE4DIP NUDT4P2 LINC00624 RNVU1-3 NBPF14 GPR89B NUDT4P1 GJA5 LOC728989 HYDIN2 LOC105371242 PDZK1P1 FMO5 CHD1L LOC101927468 NOTCH2NL LOC284561
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	TXNIP RNVU1-8 CH17-408M7.1 GJA8 NBPF11 LOC100996517 PPIAL4G PRKAB2 NBPF10 RNU1-13P NBPF12 RNVU1-7 LOC101928979 MIR6077 MIR5087 LINC01138 LOC100505824 BCL9 LOC100996763 RNVU1-1 LIX1L NBPF13P ACP6 LOC100132057 PDIA3P1 LOC105371226 PDE4DIP NUDT4P2 LINC00624 RNVU1-3 NBPF14 GPR89B NUDT4P1 RNVU1-6 GJA5 LOC728989 HYDIN2 LOC105371242 ANKRD34A PDZK1P1 FMO5 POLR3GL CHD1L LOC101927468 NOTCH2NL LOC284561 HFE2
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	RNVU1-8 CH17-408M7.1 GJA8 NBPF11 LOC100996517 PPIAL4G PRKAB2 RNU1-13P NBPF12 RNVU1-7 MIR6077 MIR5087 LINC01138 LOC100505824 BCL9 LOC100996763 RNVU1-1 NBPF13P ACP6 LOC100132057 PDIA3P1 LOC105371226 PDE4DIP NUDT4P2 LINC00624 RNVU1-3 NBPF14 GPR89B NUDT4P1 GJA5 LOC728989 HYDIN2 LOC105371242 PDZK1P1 FMO5 CHD1L LOC101927468 NOTCH2NL LOC284561
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 CH17-408M7.1 GJA8 NBPF11 LOC100996517 PPIAL4G PRKAB2 NBPF10 RNU1-13P NBPF12 RNVU1-7 LOC101928979 MIR6077 MIR5087 LINC01138 LOC100505824 BCL9 LOC100996763 RNVU1-1 NBPF13P ACP6 LOC100132057 PDIA3P1 LOC105371226 PDE4DIP NUDT4P2 LINC00624 RNVU1-3 NBPF14 GPR89B NUDT4P1 RNVU1-6 GJA5 LOC728989 HYDIN2 LOC105371242 PDZK1P1 FMO5 CHD1L LOC101927468 NOTCH2NL LOC284561
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	BCL9 GJA5 ACP6
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	RNVU1-8 CH17-408M7.1 GJA8 NBPF11 LOC100996517 PPIAL4G PRKAB2 NBPF10 RNU1-13P NBPF12 RNVU1-7 LOC101928979 MIR6077 MIR5087 LINC01138 LOC100505824 BCL9 LOC100996763 RNVU1-1 NBPF13P ACP6 LOC100132057 PDIA3P1 LOC105371226 PDE4DIP NUDT4P2 LINC00624 RNVU1-3 NBPF14 GPR89B NUDT4P1 GJA5 LOC728989 HYDIN2 LOC105371242 PDZK1P1 FMO5 CHD1L LOC101927468 NOTCH2NL LOC284561 NBPF9

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