Gene Report

Basic Info
Approved Symbol GABRA1
Symbol Alias EJM5
Approved Name gamma-aminobutyric acid (GABA) A receptor, alpha 1
Name Alias GABA(A) receptor, alpha 1
Location 5q34
Position chr5:161847063-161899981, 1
External Links HGNC: 4075
Entrez Gene: 2554
Ensembl: ENSG00000022355
UCSC: uc003lyx.4
No. of Studies 2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 2)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Horiuchi, Y.,2004 SNP: rs2279020
Other variant: GABRA1_-181A/G, GABRA1_-471T/C, GABRA1_IVS9+76A/G, rs1129647, GABRA1_IVS2-712(GT)n
These results indicate that the GABRA1 gene may play a role in the etiology of bipolar disorders. Positive Comment on Study
Yosifova, A.,2011 SNP: rs11951528, rs4317369 No significant association of this gene was observed in BD. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 19)

GO terms by PBA (count: 6)

GO terms by database search (count: 13)

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: 4)

Related other genetic factors
Gene related SNPs (count: 3)

Literature-origin SNPs (count: 3)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 5)

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: 3)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

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

View in gBrowse

Region: chr5:161847063..161899981 View in gBrowse
View in gBrowse