ADHDgene Database

Gene Report

Basic Info

Approved Symbol	GJA8
Previous Symbol	CAE1, CZP1, CAE
Symbol Alias	CX50
Approved Name	gap junction protein, alpha 8, 50kDa
Previous Name	gap junction protein, alpha 8, 50kD (connexin 50), "gap junction protein, alpha 8, 50kDa (connexin 50)"
Name Alias	connexin 50
Location	1q21.1
Position	chr1:147374936-147381396, +
External Links	HGNC: 4281 Entrez Gene: 2703 Ensembl: ENSG00000121634 UCSC: uc001epu.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: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051260	protein homooligomerization	Biological Process		34
GO:0015267	channel activity	Molecular Function	TAS[7796604]	2
GO:0002088	lens development in camera-type eye	Biological Process		7
GO:0005887	integral to plasma membrane	Cellular Component	TAS[7796604]	220
GO:0007267	cell-cell signaling	Biological Process		38
GO:0007601	visual perception	Biological Process	TAS[9497259]	30
GO:0005922	connexon complex	Cellular Component		6
GO:0006810	transport	Biological Process	TAS[7796604]	62

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with GJA8 (count: 0)

Genes shared at least 2 KEGG pathways with GJA8 (count: 0)

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Region: chr1:147374936..147381396 View in gBrowse