TSPO (translocator protein) - Rat Genome Database

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Gene: TSPO (translocator protein) Homo sapiens
Analyze
Symbol: TSPO
Name: translocator protein
RGD ID: 737564
HGNC Page HGNC:1158
Description: Predicted to enable cholesterol binding activity. Predicted to be involved in several processes, including C21-steroid hormone biosynthetic process; heme biosynthetic process; and protein targeting to mitochondrion. Located in cytosol and mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: benzodiazepin receptor; benzodiazepine peripheral binding site; BPBS; BZRP; DBI; IBP; MBR; mDRC; mitochondrial benzodiazepine receptor; PBR; PBS; peripheral benzodiazepine receptor; peripheral-type benzodiazepine receptor; pk18; PKBS; PTBR; translocator protein (18kDa); TSPO1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382243,151,559 - 43,163,242 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2243,151,547 - 43,163,242 (+)EnsemblGRCh38hg38GRCh38
GRCh372243,547,565 - 43,559,248 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,877,479 - 41,889,192 (+)NCBINCBI36Build 36hg18NCBI36
Build 342241,872,050 - 41,883,745NCBI
Celera2227,457,910 - 27,469,623 (+)NCBICelera
Cytogenetic Map22q13.2NCBI
HuRef2226,505,727 - 26,517,455 (+)NCBIHuRef
CHM1_12243,507,104 - 43,518,509 (+)NCBICHM1_1
T2T-CHM13v2.02243,632,715 - 43,644,077 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-hydroxymidazolam  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
Actein  (ISO)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
alpidem  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (ISO)
atropine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (EXP)
butan-1-ol  (EXP)
Butylparaben  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
chloropicrin  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cytarabine  (EXP)
diazepam  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
ethanol  (EXP)
ezogabine  (ISO)
fenvalerate  (ISO)
flufenacet  (ISO)
flumazenil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
heptachlor  (ISO)
Heptachlor epoxide  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
isobutanol  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
L-ascorbic acid  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
midazolam  (ISO)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nicotine  (ISO)
oxaliplatin  (EXP)
oxybenzone  (ISO)
p-menthan-3-ol  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
pentachlorophenol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (EXP,ISO)
phosgene  (ISO)
picoxystrobin  (EXP,ISO)
pirinixic acid  (ISO)
PK-11195  (EXP,ISO)
porphyrins  (ISO)
procymidone  (ISO)
protoporphyrin  (ISO)
pyrethrins  (ISO)
quinolines  (ISO)
resveratrol  (ISO)
rotenone  (EXP)
sarin  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
triadimefon  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (IEA,ISO)
behavioral response to pain  (IEA,ISO)
C21-steroid hormone biosynthetic process  (TAS)
cellular hypotonic response  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
cellular response to zinc ion  (IEA,ISO)
chloride transport  (IEA,ISO)
cholesterol homeostasis  (IEA,ISO)
contact inhibition  (IEA,ISO)
establishment of protein localization to mitochondrion  (IEA)
glial cell migration  (IEA,ISO)
heme biosynthetic process  (TAS)
intermembrane lipid transfer  (IEA)
lipid transport  (IEA)
maintenance of protein location in mitochondrion  (IEA)
monoatomic anion transport  (TAS)
monoatomic ion transport  (IEA,ISO)
negative regulation of ATP metabolic process  (IEA)
negative regulation of corticosterone secretion  (IEA,ISO)
negative regulation of glial cell proliferation  (IEA,ISO)
negative regulation of mitophagy  (IEA)
negative regulation of nitric oxide biosynthetic process  (IEA,ISO)
negative regulation of protein ubiquitination  (IEA)
negative regulation of tumor necrosis factor production  (IEA,ISO)
obsolete negative regulation of mitochondrion organization  (IEA)
peripheral nervous system axon regeneration  (IEA,ISO)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of calcium ion transport  (IEA,ISO)
positive regulation of glial cell proliferation  (IEA,ISO)
positive regulation of mitochondrial depolarization  (IEA,ISO)
positive regulation of programmed necrotic cell death  (IEA,ISO)
positive regulation of reactive oxygen species metabolic process  (IEA,ISO)
protein targeting to mitochondrion  (TAS)
regulation of cell population proliferation  (TAS)
regulation of cholesterol transport  (TAS)
regulation of steroid biosynthetic process  (IEA,ISO)
response to acetylcholine  (IEA,ISO)
response to axon injury  (IEA,ISO)
response to manganese ion  (IEA,ISO)
response to pain  (IEA,ISO)
response to progesterone  (IEA,ISO)
response to testosterone  (IEA,ISO)
response to vitamin B1  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
steroid biosynthetic process  (IEA,ISO)
steroid metabolic process  (TAS)
sterol transport  (IEA)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. An association study between two missense variations of the benzodiazepine receptor (peripheral) gene and schizophrenia in a Japanese sample. Kurumaji A, etal., J Neural Transm 2000;107(4):491-500.
4. TSPO mutations in rats and a human polymorphism impair the rate of steroid synthesis. Owen DR, etal., Biochem J. 2017 Nov 21;474(23):3985-3999. doi: 10.1042/BCJ20170648.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1326278   PMID:1654492   PMID:1847678   PMID:3018615   PMID:7626442   PMID:7721091   PMID:8121239   PMID:8307574   PMID:9027587   PMID:9915832   PMID:10591208   PMID:11304832  
PMID:12374690   PMID:12477932   PMID:12547158   PMID:14584048   PMID:14626449   PMID:14630713   PMID:14688214   PMID:15041726   PMID:15296476   PMID:15461802   PMID:15473257   PMID:15489334  
PMID:15648546   PMID:15769477   PMID:16189298   PMID:16511838   PMID:16822554   PMID:16868661   PMID:16919618   PMID:17143515   PMID:17561806   PMID:18054208   PMID:18158327   PMID:18256758  
PMID:18670869   PMID:18791274   PMID:18806692   PMID:19056867   PMID:19077109   PMID:19170196   PMID:19525461   PMID:19525468   PMID:19598235   PMID:19617321   PMID:19668118   PMID:19692168  
PMID:19789311   PMID:19846611   PMID:20056222   PMID:20085808   PMID:20222126   PMID:20424634   PMID:20491643   PMID:20600583   PMID:20872081   PMID:20877624   PMID:21320609   PMID:21498529  
PMID:21873635   PMID:21958735   PMID:22008728   PMID:22050847   PMID:22127435   PMID:22238156   PMID:22348616   PMID:22472607   PMID:22528235   PMID:22547081   PMID:22616995   PMID:22629859  
PMID:22645299   PMID:22732722   PMID:22892349   PMID:22956240   PMID:22968319   PMID:23080515   PMID:23281426   PMID:23718075   PMID:23785173   PMID:23850810   PMID:23942012   PMID:23967175  
PMID:24050790   PMID:24168369   PMID:24397957   PMID:24402571   PMID:24403586   PMID:24532136   PMID:24599476   PMID:24643083   PMID:24814875   PMID:24998961   PMID:25057196   PMID:25123025  
PMID:25416956   PMID:25453044   PMID:25560467   PMID:25635829   PMID:25968977   PMID:25979194   PMID:26123521   PMID:26182972   PMID:26344197   PMID:26378498   PMID:26472628   PMID:26496610  
PMID:26517124   PMID:26551691   PMID:26551695   PMID:26551696   PMID:26608360   PMID:26835706   PMID:26898800   PMID:27054921   PMID:27074410   PMID:27261523   PMID:27387599   PMID:27448744  
PMID:27699720   PMID:27939322   PMID:28004979   PMID:28072413   PMID:28103132   PMID:28183528   PMID:28242869   PMID:28263860   PMID:28319085   PMID:28322082   PMID:28387723   PMID:28514442  
PMID:28530125   PMID:28939116   PMID:28968465   PMID:28973423   PMID:29180619   PMID:29414032   PMID:29641545   PMID:29777199   PMID:29860333   PMID:29906515   PMID:30030837   PMID:30044440  
PMID:30463901   PMID:30575805   PMID:30893912   PMID:31144767   PMID:31260948   PMID:31276244   PMID:31295884   PMID:31363804   PMID:31510070   PMID:31515488   PMID:31515530   PMID:31563962  
PMID:31578541   PMID:31586073   PMID:31713961   PMID:31963507   PMID:32076115   PMID:32172519   PMID:32296183   PMID:32482385   PMID:32529881   PMID:32662626   PMID:32682565   PMID:32802194  
PMID:32804124   PMID:32842621   PMID:32933996   PMID:32988856   PMID:33006604   PMID:33067627   PMID:33216461   PMID:33260618   PMID:33301812   PMID:33357157   PMID:33433698   PMID:33545068  
PMID:33652554   PMID:33664474   PMID:33769215   PMID:33803741   PMID:33961781   PMID:34142769   PMID:34145928   PMID:34186245   PMID:34320915   PMID:34405276   PMID:35285861   PMID:35430971  
PMID:35475466   PMID:35522669   PMID:36057605   PMID:36071748   PMID:36517590   PMID:36973385   PMID:36980295   PMID:37047353   PMID:37158962   PMID:37291448   PMID:37574731   PMID:37580767  
PMID:37801139   PMID:37952221  


Genomics

Comparative Map Data
TSPO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382243,151,559 - 43,163,242 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2243,151,547 - 43,163,242 (+)EnsemblGRCh38hg38GRCh38
GRCh372243,547,565 - 43,559,248 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,877,479 - 41,889,192 (+)NCBINCBI36Build 36hg18NCBI36
Build 342241,872,050 - 41,883,745NCBI
Celera2227,457,910 - 27,469,623 (+)NCBICelera
Cytogenetic Map22q13.2NCBI
HuRef2226,505,727 - 26,517,455 (+)NCBIHuRef
CHM1_12243,507,104 - 43,518,509 (+)NCBICHM1_1
T2T-CHM13v2.02243,632,715 - 43,644,077 (+)NCBIT2T-CHM13v2.0
Tspo
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391583,447,774 - 83,458,404 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1583,447,793 - 83,458,404 (+)EnsemblGRCm39 Ensembl
GRCm381583,563,573 - 83,574,203 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1583,563,592 - 83,574,203 (+)EnsemblGRCm38mm10GRCm38
MGSCv371583,394,003 - 83,404,633 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361583,391,377 - 83,401,962 (+)NCBIMGSCv36mm8
Celera1585,689,315 - 85,701,021 (+)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1539.4NCBI
Tspo
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87116,600,214 - 116,610,461 (+)NCBIGRCr8
mRatBN7.27114,720,188 - 114,730,450 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7114,720,188 - 114,730,450 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7116,467,236 - 116,477,482 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07118,693,096 - 118,703,201 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07118,662,565 - 118,672,671 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07124,460,358 - 124,470,610 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7124,460,358 - 124,470,609 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07124,449,361 - 124,459,090 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47121,597,084 - 121,599,342 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17121,631,313 - 121,633,572 (+)NCBI
Celera7111,031,561 - 111,041,788 (+)NCBICelera
RH 3.4 Map7906.4RGD
Cytogenetic Map7q34NCBI
Tspo
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541328,308,658 - 28,315,075 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541328,309,105 - 28,315,075 (+)NCBIChiLan1.0ChiLan1.0
TSPO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22352,974,420 - 52,985,872 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12255,667,318 - 55,678,778 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02224,034,918 - 24,046,370 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12242,233,186 - 42,244,930 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2242,233,619 - 42,244,930 (+)Ensemblpanpan1.1panPan2
TSPO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11022,388,498 - 22,399,329 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1022,274,405 - 22,399,297 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1022,325,190 - 22,336,049 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01023,132,949 - 23,143,978 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1023,132,954 - 23,135,891 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11022,852,287 - 22,863,109 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01023,171,467 - 23,182,483 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01023,347,120 - 23,357,948 (-)NCBIUU_Cfam_GSD_1.0
Tspo
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049455,984,991 - 5,987,864 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936718992,301 - 995,995 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936718992,301 - 995,172 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSPO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl55,723,190 - 5,735,131 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.155,723,190 - 5,735,097 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.253,145,792 - 3,157,669 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TSPO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11925,678,602 - 25,690,556 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1925,686,981 - 25,690,768 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604599,748,097 - 99,760,895 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tspo
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247525,814,784 - 5,820,141 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247525,814,784 - 5,820,250 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TSPO
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293368] Chr22:42356886..43684002 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_000714.6(TSPO):c.296T>C (p.Phe99Ser) single nucleotide variant Inborn genetic diseases [RCV003256249] Chr22:43161165 [GRCh38]
Chr22:43557171 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000714.6(TSPO):c.383A>T (p.Gln128Leu) single nucleotide variant Inborn genetic diseases [RCV003290297] Chr22:43162864 [GRCh38]
Chr22:43558870 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:43472147-43723031)x3 copy number gain not provided [RCV000684465] Chr22:43472147..43723031 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_000714.6(TSPO):c.41C>T (p.Ala14Val) single nucleotide variant not provided [RCV000963535] Chr22:43159279 [GRCh38]
Chr22:43555285 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3 copy number gain not provided [RCV000845848] Chr22:42724042..43879561 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43471921-44241041)x1 copy number loss not provided [RCV001258785] Chr22:43471921..44241041 [GRCh37]
Chr22:22q13.2-13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001391668] Chr22:42440000..43780000 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:43474124-44159427)x3 copy number gain not provided [RCV001834423] Chr22:43474124..44159427 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1 copy number loss not provided [RCV001834501] Chr22:42955615..43866280 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660) copy number loss not specified [RCV002052758] Chr22:43451316..46662660 [GRCh37]
Chr22:22q13.2-13.31
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_000714.6(TSPO):c.295T>G (p.Phe99Val) single nucleotide variant Inborn genetic diseases [RCV002728335] Chr22:43161164 [GRCh38]
Chr22:43557170 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000714.6(TSPO):c.458G>A (p.Cys153Tyr) single nucleotide variant Inborn genetic diseases [RCV002861169] Chr22:43162939 [GRCh38]
Chr22:43558945 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000714.6(TSPO):c.175G>A (p.Ala59Thr) single nucleotide variant Inborn genetic diseases [RCV002879032] Chr22:43159413 [GRCh38]
Chr22:43555419 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000714.6(TSPO):c.71G>A (p.Arg24His) single nucleotide variant Inborn genetic diseases [RCV002657536] Chr22:43159309 [GRCh38]
Chr22:43555315 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000714.6(TSPO):c.215G>A (p.Gly72Glu) single nucleotide variant Inborn genetic diseases [RCV003383414] Chr22:43161084 [GRCh38]
Chr22:43557090 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:43225115-43777477)x3 copy number gain not provided [RCV003485246] Chr22:43225115..43777477 [GRCh37]
Chr22:22q13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1711
Count of miRNA genes:579
Interacting mature miRNAs:661
Transcripts:ENST00000329563, ENST00000337554, ENST00000396265, ENST00000428336, ENST00000472378, ENST00000583777
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH27789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,558,982 - 43,559,212UniSTSGRCh37
Build 362241,888,926 - 41,889,156RGDNCBI36
Celera2227,469,357 - 27,469,587RGD
Cytogenetic Map22q13.31UniSTS
HuRef2226,517,189 - 26,517,419UniSTS
RH11057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,557,253 - 43,557,460UniSTSGRCh37
Build 362241,887,197 - 41,887,404RGDNCBI36
Celera2227,467,628 - 27,467,835RGD
Cytogenetic Map22q13.31UniSTS
HuRef2226,515,460 - 26,515,667UniSTS
GeneMap99-GB4 RH Map22144.18UniSTS
NCBI RH Map22210.6UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 259 259 3 16 2
Medium 2435 2714 1687 591 1627 432 4332 2180 3346 413 1427 1595 174 1 1202 2788 4 2
Low 3 18 39 33 46 33 22 17 387 6 17 17 1 2
Below cutoff 14 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB076379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB076380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB076381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH000829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY383615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY998017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG749252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG750685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG752086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP420304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ057964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U12421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000329563   ⟹   ENSP00000328973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,151,931 - 43,163,210 (+)Ensembl
RefSeq Acc Id: ENST00000337554   ⟹   ENSP00000338004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,151,559 - 43,163,242 (+)Ensembl
RefSeq Acc Id: ENST00000396265   ⟹   ENSP00000379563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,151,935 - 43,163,241 (+)Ensembl
RefSeq Acc Id: ENST00000428336   ⟹   ENSP00000405685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,151,899 - 43,161,190 (+)Ensembl
RefSeq Acc Id: ENST00000472378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,151,573 - 43,159,672 (+)Ensembl
RefSeq Acc Id: ENST00000583777   ⟹   ENSP00000463495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,151,547 - 43,163,241 (+)Ensembl
RefSeq Acc Id: NM_000714   ⟹   NP_000705
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,151,559 - 43,163,242 (+)NCBI
GRCh372243,547,520 - 43,559,248 (+)NCBI
Build 362241,877,479 - 41,889,192 (+)NCBI Archive
HuRef2226,505,727 - 26,517,455 (+)NCBI
CHM1_12243,507,104 - 43,518,509 (+)NCBI
T2T-CHM13v2.02243,632,715 - 43,644,077 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256530   ⟹   NP_001243459
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,151,935 - 43,163,242 (+)NCBI
GRCh372243,547,520 - 43,559,248 (+)NCBI
HuRef2226,505,727 - 26,517,455 (+)NCBI
CHM1_12243,507,525 - 43,518,509 (+)NCBI
T2T-CHM13v2.02243,633,091 - 43,644,077 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256531   ⟹   NP_001243460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,151,933 - 43,163,242 (+)NCBI
GRCh372243,547,520 - 43,559,248 (+)NCBI
HuRef2226,505,727 - 26,517,455 (+)NCBI
CHM1_12243,507,523 - 43,518,509 (+)NCBI
T2T-CHM13v2.02243,633,089 - 43,644,077 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046308
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,151,559 - 43,163,242 (+)NCBI
HuRef2226,505,727 - 26,517,455 (+)NCBI
CHM1_12243,507,104 - 43,518,509 (+)NCBI
T2T-CHM13v2.02243,632,715 - 43,644,077 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441479   ⟹   XP_047297435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,151,559 - 43,163,242 (+)NCBI
RefSeq Acc Id: XM_054325888   ⟹   XP_054181863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02243,632,719 - 43,644,077 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000705 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243459 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243460 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297435 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181863 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA03652 (Get FASTA)   NCBI Sequence Viewer  
  AAA18227 (Get FASTA)   NCBI Sequence Viewer  
  AAA18228 (Get FASTA)   NCBI Sequence Viewer  
  AAA83252 (Get FASTA)   NCBI Sequence Viewer  
  AAC31172 (Get FASTA)   NCBI Sequence Viewer  
  AAC31173 (Get FASTA)   NCBI Sequence Viewer  
  AAH01110 (Get FASTA)   NCBI Sequence Viewer  
  AAP35595 (Get FASTA)   NCBI Sequence Viewer  
  AAQ75703 (Get FASTA)   NCBI Sequence Viewer  
  AAY45787 (Get FASTA)   NCBI Sequence Viewer  
  BAC00957 (Get FASTA)   NCBI Sequence Viewer  
  BAC00958 (Get FASTA)   NCBI Sequence Viewer  
  BAC00959 (Get FASTA)   NCBI Sequence Viewer  
  CAG30295 (Get FASTA)   NCBI Sequence Viewer  
  CAG33288 (Get FASTA)   NCBI Sequence Viewer  
  EAW73288 (Get FASTA)   NCBI Sequence Viewer  
  EAW73289 (Get FASTA)   NCBI Sequence Viewer  
  EAW73290 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000328973
  ENSP00000328973.4
  ENSP00000338004
  ENSP00000338004.3
  ENSP00000379563
  ENSP00000379563.4
  ENSP00000405685.1
  ENSP00000463495.1
GenBank Protein P30536 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000705   ⟸   NM_000714
- UniProtKB: Q6ICF9 (UniProtKB/Swiss-Prot),   Q53Y59 (UniProtKB/Swiss-Prot),   Q96TF6 (UniProtKB/Swiss-Prot),   P30536 (UniProtKB/Swiss-Prot),   Q13850 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243460   ⟸   NM_001256531
- UniProtKB: Q6ICF9 (UniProtKB/Swiss-Prot),   Q53Y59 (UniProtKB/Swiss-Prot),   Q96TF6 (UniProtKB/Swiss-Prot),   P30536 (UniProtKB/Swiss-Prot),   Q13850 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243459   ⟸   NM_001256530
- UniProtKB: Q6ICF9 (UniProtKB/Swiss-Prot),   Q53Y59 (UniProtKB/Swiss-Prot),   Q96TF6 (UniProtKB/Swiss-Prot),   P30536 (UniProtKB/Swiss-Prot),   Q13850 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000463495   ⟸   ENST00000583777
RefSeq Acc Id: ENSP00000405685   ⟸   ENST00000428336
RefSeq Acc Id: ENSP00000338004   ⟸   ENST00000337554
RefSeq Acc Id: ENSP00000328973   ⟸   ENST00000329563
RefSeq Acc Id: ENSP00000379563   ⟸   ENST00000396265
RefSeq Acc Id: XP_047297435   ⟸   XM_047441479
- Peptide Label: isoform X1
- UniProtKB: Q6ICF9 (UniProtKB/Swiss-Prot),   Q53Y59 (UniProtKB/Swiss-Prot),   P30536 (UniProtKB/Swiss-Prot),   Q96TF6 (UniProtKB/Swiss-Prot),   Q13850 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181863   ⟸   XM_054325888
- Peptide Label: isoform X1
- UniProtKB: Q13850 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P30536-F1-model_v2 AlphaFold P30536 1-169 view protein structure

Promoters
RGD ID:6799886
Promoter ID:HG_KWN:43107
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000329563,   NM_007311,   OTTHUMT00000318951,   OTTHUMT00000319617,   OTTHUMT00000319619
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,877,391 - 41,878,042 (+)MPROMDB
RGD ID:6852632
Promoter ID:EP74128
Type:initiation region
Name:HS_BZRP
Description:Benzodiazapine receptor (peripheral).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,877,500 - 41,877,560EPD
RGD ID:13604346
Promoter ID:EPDNEW_H28357
Type:initiation region
Name:TSPO_1
Description:translocator protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,151,559 - 43,151,619EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1158 AgrOrtholog
COSMIC TSPO COSMIC
Ensembl Genes ENSG00000100300 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000329563 ENTREZGENE
  ENST00000329563.8 UniProtKB/Swiss-Prot
  ENST00000337554 ENTREZGENE
  ENST00000337554.8 UniProtKB/Swiss-Prot
  ENST00000396265 ENTREZGENE
  ENST00000396265.4 UniProtKB/Swiss-Prot
  ENST00000428336.5 UniProtKB/TrEMBL
  ENST00000583777 ENTREZGENE
  ENST00000583777.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1260.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100300 GTEx
HGNC ID HGNC:1158 ENTREZGENE
Human Proteome Map TSPO Human Proteome Map
InterPro TspO/MBR-related_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TspO_MBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:706 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 706 ENTREZGENE
OMIM 109610 OMIM
PANTHER PTHR10057 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10057:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TspO_MBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25473 PharmGKB, RGD
PIRSF PBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AH87_HUMAN UniProtKB/TrEMBL
  J3QLD3_HUMAN UniProtKB/TrEMBL
  O76068_HUMAN UniProtKB/TrEMBL
  P30536 ENTREZGENE
  Q13850 ENTREZGENE, UniProtKB/TrEMBL
  Q53Y59 ENTREZGENE
  Q6ICF9 ENTREZGENE
  Q96TF6 ENTREZGENE
  TSPO_HUMAN UniProtKB/Swiss-Prot
  TSPOB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q13849 UniProtKB/Swiss-Prot
  Q53Y59 UniProtKB/Swiss-Prot
  Q6IAZ7 UniProtKB/Swiss-Prot
  Q6ICF9 UniProtKB/Swiss-Prot
  Q96TF6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 TSPO  translocator protein    translocator protein (18kDa)  Symbol and/or name change 5135510 APPROVED