Gene Report

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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	chr1:147907956-147909257, 1
External Links	HGNC: 4281 Entrez Gene: 2703 Ensembl: ENSG00000121634 UCSC: uc001epu.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005887	integral component of plasma membrane	cellular component	TAS[7796604]	158

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006810	transport	biological process	TAS[7796604]	47
GO:0005243	gap junction channel activity	molecular function	IEA	2
GO:0055085	transmembrane transport	biological process	IEA	77
GO:0007601	visual perception	biological process	TAS[9497259]	15
GO:0005922	connexon complex	cellular component	IEA	3
GO:0007267	cell-cell signaling	biological process	IEA	29
GO:0015267	channel activity	molecular function	TAS[7796604]	4
GO:0002088	lens development in camera-type eye	biological process	IEA	3
GO:0051260	protein homooligomerization	biological process	IEA	13

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01430	Cell Communication	11

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GJA8	MIP	YES	in vivo	9664032
GJA8	TJP1	NO	in vitro;in vivo	12808044

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_1	chr1:144943150-146293282 (NCBI Build 36/hg18)	1	1q21.1	duplication

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p13.2-1q21.3	chr1:111200000-155100000	1 (1/0/0)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	ID in SZGene	Result Category
17412882	488	Positive

Gene relationship with MDD

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Region: chr1:147907956..147909257 View in gBrowse