Gene Report

Basic Info
Approved Symbol TSPO
Previous Symbol BZRP
Symbol Alias PBR, MBR, PKBS, mDRC, DBI, IBP, pk18
Approved Name translocator protein (18kDa)
Previous Name benzodiazapine receptor (peripheral)
Name Alias peripheral-type benzodiazepine receptor/recognition site
Location 22q13.3
Position chr22:43151514-43163242, 1
External Links HGNC: 1158
Entrez Gene: 706
Ensembl: ENSG00000100300
UCSC: uc003bdo.4
No. of Studies 3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 3)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Fallin, M. D.,2005 6 SNP typed, Median D'=1, Median r<sup>2</sup> =0.26, 1 LD blocks, 0.99 block coverage, there exists SNP or haplotype nominal P-value > 0.01 and <0.05 in SZ/SZA and all SNP or haplotype P-value > 0.05 in BP.. This gene is suggestive to SZ/SZA , not suggestive to BP. Negative Comment on Study
Kurumaji, A.,2001 Haplotype: (BZRP_exon_Ala147Thr) - ( BZRP_exon_His162Arg)()
Other variant: TSPO_exon4_Ala147Thr, TSPO_exon4_His162Arg
In conclusion, no association between the BZRP gene and mood disorders was observed in the present study. Negative Comment on Study
Colasanti, A.,2013 SNP: rs6971 We report a nominal association between this TSPO polymorphism and the diagnosis of Bipolar Disorder. This supports the hypothesis that HPA dysregulation has a causal role in Bipolar Disorder, and is not just a consequence of the disease. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 46)

GO terms by PBA (count: 3)

GO terms by database search (count: 43)

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: 2)

Related other genetic factors
Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Gene related regions (count: 4)

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

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

Overlap with SZ from candidate gene intersection analysis (count: 2)

Gene relationship with MDD

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

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr22:43151514..43163242 View in gBrowse
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