Gene Report

Basic Info
Approved Symbol GABRA5
Approved Name gamma-aminobutyric acid (GABA) A receptor, alpha 5
Name Alias GABA(A) receptor, alpha 5
Location 15q12
Position chr15:26866363-26949207, 1
External Links HGNC: 4079
Entrez Gene: 2558
Ensembl: ENSG00000186297
UCSC: uc021sgi.1
No. of Studies 6 (Positive: 6; Negative: 0; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 6)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Papadimitriou, G. N., 1998 Other variant: GABRA5_(CA)n The distribution of allelic frequencies of the GABRA5 locus differed significantly between BP patients and controls with the 282-bp allele found to be associated with BP affective disorder. Positive Comment on Study
Duffy, A.,2000 Other variant: GABRA5_GDB162554 In conclusion, our study does not support the hypothesis that genes coding for CRH or PENK contribute to the genetic susceptibility to bipolar disorder. Positive Comment on Study
Otani, K.,2005(a) SNP: rs140681, rs140683, rs6606854
Haplotype: rs140681 - rs140683(A-A), rs140681 - rs140683(A-T), rs140681 - rs140683(G-A), rs140681 - rs140683(G-T)
Other variant: GABRA5_+11547_(CA)n
These results suggest that the GABRA5 gene may confer susceptibility to bipolar I disorder. Positive Comment on Study
Yosifova, A.,2009 SNP: rs140681 Significant association of SNP in this gene with BD in our population was observed. Positive Comment on Study
Oruc, L., 1997 ( c) Other variant: GABRA5_3'UTR_1-8 allele ln the view of thesc observations, our data could be explained by assuming that allele 4 of the GABRA5 gene polymorphism confers a higher risk to UPR major depression but not necessarily to BPI disorder which combines major depression with manic episodes. Positive Comment on Study
Craddock, N., 2010 SNP: rs17561681 set-based analysis for gene-wide P-value = 0.0024. gene-wide levels of statistical significance in RDC SABP samples, but not other subsets of samples. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 30)

GO terms by PBA (count: 9)

GO terms by database search (count: 21)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (count: 2)

BioCarta pathways by database search (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors
Gene related SNPs (count: 6)

Literature-origin SNPs (count: 4)

LD-proxies (count: 2)

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Gene related regions (count: 2)

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

Overlap with MDD from cross-disorder studies (count: 2)

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

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Region: chr15:26866363..26949207 View in gBrowse
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