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 1q21.2
Position chr1:147756199-147773362, -1
External Links HGNC: 4279
Entrez Gene: 2702
Ensembl: ENSG00000265107
UCSC: uc021ovl.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: 53)

GO terms by PBA (count: 2)

GO terms by database search (count: 51)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

Gene related other variants (count: 0)

Gene related regions (count: 3)

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

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Gene relationship with MDD

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Region: chr1:147756199..147773362 View in gBrowse
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