ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	GJA5
Symbol Alias	CX40
Approved Name	gap junction protein, alpha 5, 40kDa
Previous Name	gap junction protein, alpha 5, 40kD (connexin 40), "gap junction protein, alpha 5, 40kDa (connexin 40)"
Name Alias	connexin 40
Location	1q21.1
Position	chr1:147228332-147245484, -
External Links	HGNC: 4279 Entrez Gene: 2702 Ensembl: ENSG00000143140 UCSC: uc001eps.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_2	chr1:144943150-146293282 (NCBI36 / hg18)	1350133	1q21.1	del

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 39)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 39)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0030326	embryonic limb morphogenesis	Biological Process		8
GO:0016264	gap junction assembly	Biological Process	IMP[16790700]	3
GO:0014704	intercalated disc	Cellular Component	IDA[16790700]	10
GO:0005922	connexon complex	Cellular Component		6
GO:0048844	artery morphogenesis	Biological Process		9
GO:0042312	regulation of vasodilation	Biological Process		1
GO:0035922	foramen ovale closure	Biological Process		1
GO:0035050	embryonic heart tube development	Biological Process		3
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	Biological Process		4
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	Biological Process		3
GO:0055117	regulation of cardiac muscle contraction	Biological Process		4
GO:0055077	gap junction hemi-channel activity	Molecular Function		3
GO:0086005	regulation of ventricular cardiac muscle cell action potential	Biological Process		5
GO:0060413	atrial septum morphogenesis	Biological Process		4
GO:0060412	ventricular septum morphogenesis	Biological Process		5
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	Biological Process		3
GO:0086053	AV node cell to bundle of His cell communication by electrical coupling	Biological Process		1
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	Biological Process		3
GO:0086014	regulation of atrial cardiac muscle cell action potential	Biological Process		4
GO:0086015	regulation of SA node cell action potential	Biological Process		1
GO:0086077	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	Molecular Function		1
GO:0086091	regulation of heart rate by cardiac conduction	Biological Process		7
GO:0086069	bundle of His cell to Purkinje myocyte communication	Biological Process		3
GO:0086075	gap junction channel activity involved in cardiac conduction electrical coupling	Molecular Function	IMP[16790700]	1
GO:1900133	regulation of renin secretion into blood stream	Biological Process		1
GO:1900825	regulation of membrane depolarization involved in regulation of cardiac muscle cell action potential	Biological Process		2
GO:0001501	skeletal system development	Biological Process		16
GO:0001525	angiogenesis	Biological Process	IEP[11866539]	35
GO:0003071	renal system process involved in regulation of systemic arterial blood pressure	Biological Process		1
GO:0003151	outflow tract morphogenesis	Biological Process		12
GO:0003161	cardiac conduction system development	Biological Process		1
GO:0003174	mitral valve development	Biological Process		1
GO:0003193	pulmonary valve formation	Biological Process		1
GO:0003281	ventricular septum development	Biological Process		5
GO:0003283	atrial septum development	Biological Process		1
GO:0003284	septum primum development	Biological Process		1
GO:0003294	atrial ventricular junction remodeling	Biological Process		1
GO:0005887	integral to plasma membrane	Cellular Component		220
GO:0005921	gap junction	Cellular Component		7

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with GJA5 (count: 2)

Gene Symbol	Pathway Count	Pathway List
GJA1	6	gap junction assembly; intercalated disc; connexon complex; regulation of atrial cardiac muscle cell action potential; integral to plasma membrane; gap junction;
SCN3B	5	regulation of atrial cardiac muscle cell membrane depolarization; regulation of ventricular cardiac muscle cell action potential; regulation of ventricular cardiac muscle cell membrane depolarization; regulation of atrial cardiac muscle cell action potential; regulation of heart rate by cardiac conduction;

Genes shared at least 2 KEGG pathways with GJA5 (count: 0)

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Region: chr1:147228332..147245484 View in gBrowse