Hs00357845_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147757380 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	2003	NP_005257.2
	NM_181703.3	2	2000	NP_859054.1
	XM_005272951.4	2	2353	XP_005273008.1
	XM_017001044.1	3	4042	XP_016856533.1
	AF074995.1
	BC013313.2	2	1971	AAH13313.1

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

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