Hs02406580_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147756830 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJA5	NM_005266.6	2	2553	NP_005257.2
	NM_181703.3	2	2550	NP_859054.1
	XM_005272951.4	2	2903	XP_005273008.1
	XM_017001044.1	3	4592	XP_016856533.1
	AF074995.1	1	506
	BM970701.1

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

More Information

• Set Membership: Intragenic, 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