Gene Report

Basic Info
Approved Symbol GJA1
Previous Symbol ODDD, GJAL
Symbol Alias CX43, ODD, ODOD, SDTY3
Approved Name gap junction protein, alpha 1, 43kDa
Previous Name gap junction protein, alpha-like, "gap junction protein, alpha 1, 43kDa (connexin 43)"
Name Alias oculodentodigital dysplasia (syndactyly type III), "connexin 43"
Location 6q22.31
Position chr6:121435692-121449727, 1
External Links HGNC: 4274
Entrez Gene: 2697
Ensembl: ENSG00000152661
UCSC: uc003pyr.3
No. of Studies 1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ? NO
Overlap with MDD? NO
Gene related studies (count: 1)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Fan, J., 2010 SNP: rs2892767 For gene-based test, P-value = 0.24 in STEP1; P-value = 0.01 in NIMH; P-value = 0.017 in STEP1 and NIMH. nominally significant in NIMH sample and pooled sample, but not survive Bonferroni correction test. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 94)

GO terms by PBA (count: 6)

GO terms by database search (count: 88)

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

Gene related interactors from protein-protein interactions data in HPRD (count: 16)

Related other genetic factors
Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

LD-proxies (count: 3)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

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

Gene relationship with MDD

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Region: chr6:121435692..121449727 View in gBrowse
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