Hs06572834_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147766528 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	GJA8 GJA5
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	ACP6 CD160 PEX11B NBPF12 ANKRD35 RBM8A PDZK1P1 LOC100996517 ITGA10 TXNIP PRKAB2 LOC101928979 NBPF10 LOC100132057 GPR89B MIR5087 PIAS3 LOC284561 GJA5 LINC01138 LINC00624 CHD1L NUDT17 PDE4DIP NUDT4P1 LOC100996763 PPIAL4G NBPF14 NBPF11 LIX1L POLR3C GNRHR2 NUDT4P2 RNVU1-7 RNVU1-3 MIR6736 PDZK1 GJA8 LOC100505824 RNF115 NBPF13P HFE2 NOTCH2NL GPR89A RNVU1-1 PDIA3P1 LOC105371242 MIR6077 BCL9 LOC728989 RNU1-13P CH17-408M7.1 RNVU1-8 LOC101927468 FMO5 LOC105371226 ANKRD34A POLR3GL HYDIN2 RNVU1-6
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	ACP6 LOC100996763 PPIAL4G NBPF14 NBPF11 NBPF12 NUDT4P2 RNVU1-7 RNVU1-3 PDZK1P1 LOC100996517 GJA8 PRKAB2 LOC100505824 LOC101928979 NBPF13P NBPF10 NOTCH2NL RNVU1-1 LOC100132057 GPR89B PDIA3P1 MIR5087 LOC105371242 LOC284561 MIR6077 GJA5 BCL9 LOC728989 RNU1-13P CH17-408M7.1 LINC01138 RNVU1-8 LOC101927468 FMO5 LOC105371226 LINC00624 CHD1L PDE4DIP HYDIN2 RNVU1-6 NUDT4P1
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	ACP6 LOC100996763 PPIAL4G NBPF14 NBPF11 NBPF12 NUDT4P2 RNVU1-7 RNVU1-3 PDZK1P1 LOC100996517 GJA8 PRKAB2 LOC100505824 NBPF13P NBPF10 NOTCH2NL RNVU1-1 LOC100132057 GPR89B PDIA3P1 MIR5087 LOC105371242 LOC284561 MIR6077 GJA5 BCL9 LOC728989 RNU1-13P CH17-408M7.1 LINC01138 RNVU1-8 LOC101927468 FMO5 LOC105371226 LINC00624 CHD1L PDE4DIP HYDIN2 NUDT4P1
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	ACP6 LOC100996763 PPIAL4G NBPF14 NBPF11 LIX1L NBPF12 NUDT4P2 RNVU1-7 RNVU1-3 PDZK1P1 LOC100996517 GJA8 TXNIP PRKAB2 LOC100505824 LOC101928979 NBPF13P HFE2 NBPF10 NOTCH2NL RNVU1-1 LOC100132057 GPR89B PDIA3P1 MIR5087 LOC105371242 LOC284561 MIR6077 GJA5 BCL9 LOC728989 RNU1-13P CH17-408M7.1 LINC01138 RNVU1-8 LOC101927468 FMO5 LOC105371226 LINC00624 CHD1L ANKRD34A POLR3GL PDE4DIP HYDIN2 RNVU1-6 NUDT4P1
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	ACP6 LOC100996763 PPIAL4G NBPF14 NBPF11 NBPF12 NUDT4P2 RNVU1-7 RNVU1-3 PDZK1P1 LOC100996517 GJA8 PRKAB2 LOC100505824 NBPF13P NOTCH2NL RNVU1-1 LOC100132057 GPR89B PDIA3P1 MIR5087 LOC105371242 LOC284561 MIR6077 GJA5 BCL9 LOC728989 RNU1-13P CH17-408M7.1 LINC01138 RNVU1-8 LOC101927468 FMO5 LOC105371226 LINC00624 CHD1L PDE4DIP HYDIN2 NUDT4P1
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	ACP6 LOC100996763 PPIAL4G NBPF14 NBPF11 NBPF12 NUDT4P2 RNVU1-7 RNVU1-3 PDZK1P1 LOC100996517 GJA8 PRKAB2 LOC100505824 LOC101928979 NBPF13P NBPF10 NOTCH2NL RNVU1-1 LOC100132057 GPR89B PDIA3P1 MIR5087 LOC105371242 LOC284561 MIR6077 GJA5 BCL9 LOC728989 RNU1-13P CH17-408M7.1 LINC01138 RNVU1-8 LOC101927468 FMO5 LOC105371226 LINC00624 CHD1L PDE4DIP HYDIN2 RNVU1-6 NUDT4P1
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	ACP6 GJA5 BCL9
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	ACP6 LOC100996763 PPIAL4G NBPF14 NBPF11 NBPF12 NUDT4P2 RNVU1-7 RNVU1-3 PDZK1P1 LOC100996517 GJA8 PRKAB2 LOC100505824 LOC101928979 NBPF13P NBPF10 NOTCH2NL NBPF9 RNVU1-1 LOC100132057 GPR89B PDIA3P1 MIR5087 LOC105371242 LOC284561 MIR6077 GJA5 BCL9 LOC728989 RNU1-13P CH17-408M7.1 LINC01138 RNVU1-8 LOC101927468 FMO5 LOC105371226 LINC00624 CHD1L PDE4DIP HYDIN2 NUDT4P1

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