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

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