Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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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)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	IEA	116
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0006869	lipid transport	biological process	IEA	4

GO terms by database search (count: 43)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006783	heme biosynthetic process	biological process	TAS[16822554]	2
GO:0042493	response to drug	biological process	IEA	57
GO:0030325	adrenal gland development	biological process	IEA	5
GO:0008283	cell proliferation	biological process	TAS[16822554]	37
GO:0050810	regulation of steroid biosynthetic process	biological process	IEA	2
GO:0043065	positive regulation of apoptotic process	biological process	IEA	25
GO:0033574	response to testosterone	biological process	IEA	2
GO:0005741	mitochondrial outer membrane	cellular component	IEA	10
GO:0006694	steroid biosynthetic process	biological process	IEA	2
GO:0060252	positive regulation of glial cell proliferation	biological process	IEA	1
GO:0010266	response to vitamin B1	biological process	IEA	1
GO:0032570	response to progesterone	biological process	IEA	5
GO:0031965	nuclear membrane	cellular component	IDA	15
GO:0008202	steroid metabolic process	biological process	TAS[16822554]	4
GO:0071476	cellular hypotonic response	biological process	IEA	3
GO:0048266	behavioral response to pain	biological process	IEA	4
GO:0008503	benzodiazepine receptor activity	molecular function	IEA	4
GO:0032720	negative regulation of tumor necrosis factor production	biological process	IEA	5
GO:0045019	negative regulation of nitric oxide biosynthetic process	biological process	IEA	2
GO:0015485	cholesterol binding	molecular function	TAS[16822554]	5
GO:0051901	positive regulation of mitochondrial depolarization	biological process	IEA	4
GO:0006915	apoptotic process	biological process	TAS[16822554]	39
GO:0051928	positive regulation of calcium ion transport	biological process	IEA	9
GO:0071294	cellular response to zinc ion	biological process	IEA	2
GO:0010042	response to manganese ion	biological process	IEA	2
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0032374	regulation of cholesterol transport	biological process	TAS[16822554]	1
GO:0006821	chloride transport	biological process	IEA	4
GO:0007568	aging	biological process	IEA	22
GO:0005497	androgen binding	molecular function	IEA	1
GO:0071222	cellular response to lipopolysaccharide	biological process	IEA	12
GO:0006626	protein targeting to mitochondrion	biological process	TAS[1326278]	1
GO:0010940	positive regulation of necrotic cell death	biological process	IEA	1
GO:2000379	positive regulation of reactive oxygen species metabolic process	biological process	IEA	4
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0005739	mitochondrion	cellular component	IDA	75
GO:0006820	anion transport	biological process	TAS[16822554]	1
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0008347	glial cell migration	biological process	IEA	1
GO:0060242	contact inhibition	biological process	IEA	1
GO:0014012	peripheral nervous system axon regeneration	biological process	IEA	4
GO:0060253	negative regulation of glial cell proliferation	biological process	IEA	3

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
TSPO	DBI	NO	in vitro;in vivo	7626442
TSPO	BZRAP1	NO	in vitro;yeast 2-hybrid	9915832

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6971	chr22:43162920 - 43162920(1)	downstream_gene_variant; missense_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
TSPO_exon4_His162Arg	point mutation	exon4	1 (0/1/0)
TSPO_exon4_Ala147Thr	point mutation	exon4	1 (0/1/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q12.3-13.32	chr22:31800000-49100000	1 (0/1/0)
Chr 22	chr22:0-50818468	2 (0/1/1)
22q12.3-q13.33	chr22:31800000-50818468	1 (1/0/0)
22q13	chr22:37200000-50818468	1 (1/0/0)

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

Gene relationship with SZ

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

Reference	Description	Result Category
16380905	This gene is suggestive to SZ/SZA , not suggestive to BP.	Trend

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

Reference	ID in SZGene	Result Category
16380905	471	Trend
11215759	471	Negative

Gene relationship with MDD

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

Reference	Description	Category in MDD
11304832	In conclusion, no association between the BZRP gene and mood disorders was observed in the present study.	Negative

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

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Region: chr22:43151514..43163242 View in gBrowse