STAT5B (signal transducer and activator of transcription 5B) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: STAT5B (signal transducer and activator of transcription 5B) Homo sapiens
Analyze
Symbol: STAT5B
Name: signal transducer and activator of transcription 5B
RGD ID: 730906
HGNC Page HGNC
Description: Exhibits glucocorticoid receptor binding activity and identical protein binding activity. Involved in growth hormone receptor signaling pathway via JAK-STAT; positive regulation of erythrocyte differentiation; and response to estradiol. Predicted to localize to chromatin; cytoplasm; and nucleus. Implicated in growth hormone insensitivity syndrome with immune dysregulation 1 and growth hormone insensitivity syndrome with immune dysregulation 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GHISID2; STAT5; transcription factor STAT5B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh38.p13 Ensembl1742,199,168 - 42,276,707 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1742,199,177 - 42,276,707 (-)EnsemblGRCh38hg38GRCh38
GRCh381742,199,177 - 42,288,437 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371740,351,195 - 40,428,409 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,604,721 - 37,681,950 (-)NCBINCBI36hg18NCBI36
Build 341737,604,721 - 37,681,950NCBI
Celera1737,005,458 - 37,083,308 (-)NCBI
Cytogenetic Map17q21.2NCBI
HuRef1736,116,230 - 36,193,344 (-)NCBIHuRef
CHM1_11740,586,923 - 40,664,134 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-benzofuran  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-tert-Butoxy-2-propanol  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-nitrotoluene  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (EXP)
4-vinylcyclohexene dioxide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
ammonium chloride  (ISO)
androst-4-ene-3,17-dione  (ISO)
AP20187  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzoates  (EXP)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
ciprofibrate  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
coumarin  (ISO)
curcumin  (EXP)
cyclophosphamide  (ISO)
cyproconazole  (ISO)
DDE  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dichloromethane  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
eugenol  (EXP)
fenofibrate  (ISO)
folic acid  (ISO)
furan  (ISO)
GW 501516  (ISO)
hexachlorobenzene  (EXP,ISO)
hydrogen peroxide  (EXP)
indometacin  (ISO)
lipopolysaccharide  (EXP,ISO)
malathion  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-(1-naphthyl)ethylenediamine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-Methylolacrylamide  (ISO)
naphthalene  (ISO)
naphthalene-1,5-diamine  (ISO)
nickel atom  (ISO)
nickel sulfate  (EXP,ISO)
nicotine  (EXP)
nitric oxide  (ISO)
oxazepam  (ISO)
paracetamol  (ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenanthrolines  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
piperine  (ISO)
pirinixic acid  (ISO)
ponatinib  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
quercetin  (ISO)
quizartinib  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
sebacic acid  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sorafenib  (EXP)
tamibarotene  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tofacitinib  (EXP,ISO)
toluene 2,4-diisocyanate  (ISO)
triadimefon  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
tunicamycin  (ISO)
tyrphostin AG 1478  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acute-phase response  (ISO)
cellular response to epidermal growth factor stimulus  (ISO,ISS)
cellular response to growth factor stimulus  (ISO,ISS)
cellular response to hormone stimulus  (IDA)
cytokine-mediated signaling pathway  (IBA,ISO,TAS)
defense response  (IBA)
development of secondary female sexual characteristics  (IEA,ISO)
development of secondary male sexual characteristics  (IEA,ISO)
female pregnancy  (IEA,ISO)
growth hormone receptor signaling pathway via JAK-STAT  (IBA,IDA,IEA,ISO,TAS)
interleukin-15-mediated signaling pathway  (TAS)
interleukin-2-mediated signaling pathway  (TAS)
interleukin-7-mediated signaling pathway  (TAS)
interleukin-9-mediated signaling pathway  (TAS)
lactation  (IEA,ISO)
lipid storage  (IEA,ISO)
liver development  (ISO)
luteinization  (IEA,ISO)
mast cell migration  (IEA,ISO)
natural killer cell differentiation  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of erythrocyte differentiation  (IEA,ISO)
Peyer's patch development  (IEA,ISO)
positive regulation of activated T cell proliferation  (IEA,ISO)
positive regulation of B cell differentiation  (IEA,ISO)
positive regulation of cell population proliferation  (ISO)
positive regulation of cellular component movement  (ISO)
positive regulation of erythrocyte differentiation  (IDA)
positive regulation of gamma-delta T cell differentiation  (IEA,ISO)
positive regulation of inflammatory response  (IEA,ISO)
positive regulation of interleukin-2 production  (IEA,ISO)
positive regulation of lymphocyte differentiation  (ISO)
positive regulation of mitotic cell cycle  (IEA,ISO)
positive regulation of multicellular organism growth  (IEA,ISO)
positive regulation of natural killer cell differentiation  (IEA,ISO)
positive regulation of natural killer cell mediated cytotoxicity  (IEA,ISO)
positive regulation of natural killer cell proliferation  (IEA,ISO)
positive regulation of smooth muscle cell proliferation  (ISO)
positive regulation of transcription by RNA polymerase II  (ISO,ISS)
progesterone metabolic process  (IEA,ISO)
receptor signaling pathway via JAK-STAT  (IBA,ISO)
regulation of cell adhesion  (ISO)
regulation of cell population proliferation  (IBA)
regulation of epithelial cell differentiation  (IEA,ISO)
regulation of multicellular organism growth  (ISO,ISS)
regulation of steroid metabolic process  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,ISO)
regulation of transcription, DNA-templated  (IEA,ISO)
response to estradiol  (IDA)
response to ethanol  (ISO)
response to hypoxia  (ISO)
response to interleukin-15  (ISO)
response to interleukin-2  (ISO)
response to interleukin-4  (IEA,ISO)
response to lipopolysaccharide  (ISO)
response to peptide hormone  (IBA,ISO)
sex differentiation  (ISO)
T cell differentiation in thymus  (IEA,ISO)
T cell homeostasis  (IEA,ISO)
taurine metabolic process  (ISO,ISS)
transcription by RNA polymerase II  (ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (ISO,ISS)
cytosol  (ISO,TAS)
nucleoplasm  (TAS)
nucleus  (ISO,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7719938   PMID:8631883   PMID:8702476   PMID:8732682   PMID:8878484   PMID:8923468   PMID:8977232   PMID:9047382   PMID:9122188   PMID:9211920   PMID:9398404   PMID:9428692  
PMID:9484840   PMID:9528750   PMID:9575217   PMID:9804779   PMID:9813029   PMID:9845531   PMID:9880255   PMID:9989503   PMID:10358045   PMID:10441338   PMID:10506573   PMID:10558875  
PMID:10594041   PMID:10602027   PMID:10617656   PMID:10652277   PMID:10720694   PMID:10815800   PMID:10830280   PMID:10954736   PMID:10996427   PMID:11030348   PMID:11097834   PMID:11158330  
PMID:11350939   PMID:11440634   PMID:11485409   PMID:11562369   PMID:11726519   PMID:11751923   PMID:11867689   PMID:11923474   PMID:11929748   PMID:11929749   PMID:12036885   PMID:12039028  
PMID:12039059   PMID:12089361   PMID:12145702   PMID:12167251   PMID:12193575   PMID:12198240   PMID:12237455   PMID:12377952   PMID:12429742   PMID:12456798   PMID:12477932   PMID:12538627  
PMID:12552091   PMID:12605694   PMID:12621061   PMID:12642867   PMID:12847485   PMID:12901872   PMID:12954634   PMID:13679528   PMID:14583472   PMID:14645506   PMID:14662325   PMID:14704793  
PMID:14726409   PMID:14726487   PMID:14744259   PMID:15010467   PMID:15067053   PMID:15105428   PMID:15128421   PMID:15489334   PMID:15588985   PMID:15591245   PMID:15611091   PMID:15644415  
PMID:15677474   PMID:15944278   PMID:16025120   PMID:16115927   PMID:16155412   PMID:16169484   PMID:16289657   PMID:16303763   PMID:16464942   PMID:16476059   PMID:16502315   PMID:16584384  
PMID:16729043   PMID:16765629   PMID:16772534   PMID:16840779   PMID:16887981   PMID:16920911   PMID:16964243   PMID:17148664   PMID:17225522   PMID:17332243   PMID:17389811   PMID:17438530  
PMID:17471233   PMID:17509524   PMID:17546465   PMID:17554063   PMID:17630355   PMID:17639043   PMID:17652536   PMID:17672932   PMID:17726024   PMID:17822672   PMID:17881646   PMID:17997837  
PMID:18172316   PMID:18197699   PMID:18276758   PMID:18285272   PMID:18430728   PMID:18550772   PMID:18660489   PMID:18768844   PMID:18831980   PMID:18927468   PMID:18978678   PMID:19011510  
PMID:19047094   PMID:19274049   PMID:19290007   PMID:19349617   PMID:19362457   PMID:19375647   PMID:19423540   PMID:19630967   PMID:19709433   PMID:19738201   PMID:19775300   PMID:19796718  
PMID:19913121   PMID:19923221   PMID:19966185   PMID:20065083   PMID:20167868   PMID:20227268   PMID:20233708   PMID:20339477   PMID:20352702   PMID:20372799   PMID:20372811   PMID:20406964  
PMID:20415542   PMID:20438785   PMID:20534752   PMID:20538865   PMID:20585448   PMID:20621061   PMID:20628086   PMID:20644163   PMID:20702587   PMID:20716621   PMID:20962278   PMID:20969921  
PMID:21106534   PMID:21214269   PMID:21276004   PMID:21464042   PMID:21470284   PMID:21670473   PMID:21704724   PMID:21712541   PMID:21752895   PMID:21826656   PMID:21832049   PMID:21873635  
PMID:21964595   PMID:21988832   PMID:22093990   PMID:22126101   PMID:22159083   PMID:22194600   PMID:22442148   PMID:22522791   PMID:22552610   PMID:22678306   PMID:22725130   PMID:22729867  
PMID:22863883   PMID:22939629   PMID:22959364   PMID:22977252   PMID:23097626   PMID:23128233   PMID:23130760   PMID:23149921   PMID:23151802   PMID:23160480   PMID:23166650   PMID:23250732  
PMID:23271512   PMID:23332799   PMID:23341462   PMID:23406773   PMID:23451206   PMID:23458731   PMID:23465551   PMID:23593005   PMID:23596048   PMID:23601296   PMID:23660011   PMID:23716595  
PMID:23773921   PMID:23797738   PMID:23896798   PMID:23929016   PMID:24004716   PMID:24091309   PMID:24155890   PMID:24289584   PMID:24335105   PMID:24354892   PMID:24440911   PMID:24497979  
PMID:24512550   PMID:24523507   PMID:24753251   PMID:24878107   PMID:24947020   PMID:24968937   PMID:24972766   PMID:25011556   PMID:25013050   PMID:25137041   PMID:25205818   PMID:25241761  
PMID:25352693   PMID:25470773   PMID:25487443   PMID:25552366   PMID:25586472   PMID:25749351   PMID:25862676   PMID:25907517   PMID:25921289   PMID:25997700   PMID:26034074   PMID:26084564  
PMID:26238487   PMID:26344197   PMID:26362718   PMID:26397390   PMID:26496610   PMID:26648017   PMID:26717567   PMID:26917488   PMID:27035235   PMID:27264955   PMID:27367207   PMID:27697773  
PMID:27956386   PMID:27984641   PMID:28104302   PMID:28219718   PMID:28373165   PMID:28422733   PMID:28476799   PMID:28514442   PMID:28611215   PMID:28612433   PMID:28686668   PMID:28883622  
PMID:28887441   PMID:28954886   PMID:29117863   PMID:29187589   PMID:29200404   PMID:29377304   PMID:29844444   PMID:30054970   PMID:30205186   PMID:30224337   PMID:30516071   PMID:30573779  
PMID:30964854   PMID:30967617   PMID:30985989   PMID:31175292   PMID:31600547   PMID:31931557   PMID:32041920   PMID:32113119   PMID:32296183   PMID:32790723   PMID:33120845  


Genomics

Comparative Map Data
STAT5B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1742,199,168 - 42,276,707 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1742,199,177 - 42,276,707 (-)EnsemblGRCh38hg38GRCh38
GRCh381742,199,177 - 42,288,437 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371740,351,195 - 40,428,409 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,604,721 - 37,681,950 (-)NCBINCBI36hg18NCBI36
Build 341737,604,721 - 37,681,950NCBI
Celera1737,005,458 - 37,083,308 (-)NCBI
Cytogenetic Map17q21.2NCBI
HuRef1736,116,230 - 36,193,344 (-)NCBIHuRef
CHM1_11740,586,923 - 40,664,134 (-)NCBICHM1_1
Stat5b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911100,671,557 - 100,741,407 (-)NCBIGRCm39mm39
GRCm39 Ensembl11100,671,557 - 100,741,550 (-)Ensembl
GRCm3811100,780,731 - 100,859,004 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11100,780,731 - 100,850,724 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711100,642,045 - 100,711,899 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611100,596,821 - 100,638,618 (-)NCBImm8
MGSCv3611101,557,264 - 101,599,060 (-)NCBImm8
Cytogenetic Map11DNCBI
cM Map1163.63NCBI
Stat5b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21085,704,841 - 85,775,856 (-)NCBI
Rnor_6.0 Ensembl1088,686,207 - 88,754,829 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01088,686,207 - 88,712,313 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01088,480,377 - 88,506,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41089,716,624 - 89,743,134 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11089,730,993 - 89,757,504 (-)NCBI
Celera1084,424,576 - 84,451,052 (-)NCBICelera
RH 3.4 Map10837.39RGD
Cytogenetic Map10q31NCBI
Stat5b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545116,253,645 - 16,295,337 (-)NCBIChiLan1.0ChiLan1.0
LOC100989105
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11715,306,412 - 15,338,973 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1715,306,418 - 15,336,463 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01715,040,303 - 15,116,682 (+)NCBIMhudiblu_PPA_v0panPan3
STAT5B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl920,691,483 - 20,716,485 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1920,647,712 - 20,718,453 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Stat5b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493649017,022,268 - 17,043,751 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STAT5B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1220,508,403 - 20,574,288 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11220,498,103 - 20,574,365 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21220,634,155 - 20,864,515 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103243413
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11663,997,486 - 64,070,392 (+)NCBI
ChlSab1.1 Ensembl1663,997,441 - 64,070,445 (+)Ensembl

Position Markers
D17S1802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,353,486 - 40,353,713UniSTSGRCh37
Build 361737,607,012 - 37,607,239RGDNCBI36
Celera1737,007,749 - 37,007,976RGD
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1736,118,521 - 36,118,748UniSTS
Marshfield Genetic Map1764.16UniSTS
Marshfield Genetic Map1764.16RGD
Genethon Genetic Map1764.9UniSTS
deCODE Assembly Map1770.79UniSTS
D17S1793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,359,404 - 40,359,602UniSTSGRCh37
Build 361737,612,930 - 37,613,128RGDNCBI36
Celera1737,013,667 - 37,013,865RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,124,440 - 36,124,636UniSTS
Marshfield Genetic Map1763.09RGD
Marshfield Genetic Map1763.09UniSTS
Genethon Genetic Map1763.7UniSTS
deCODE Assembly Map1770.79UniSTS
Whitehead-YAC Contig Map17 UniSTS
D17S1801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,415,784 - 40,416,022UniSTSGRCh37
Build 361737,669,310 - 37,669,548RGDNCBI36
Celera1737,070,668 - 37,070,906RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,180,822 - 36,181,056UniSTS
Marshfield Genetic Map1763.09UniSTS
Marshfield Genetic Map1763.09RGD
Genethon Genetic Map1763.7UniSTS
deCODE Assembly Map1771.07UniSTS
RH16203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,413,776 - 40,413,927UniSTSGRCh37
Build 361737,667,302 - 37,667,453RGDNCBI36
Celera1737,068,660 - 37,068,811RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,178,820 - 36,178,971UniSTS
GeneMap99-GB4 RH Map17307.37UniSTS
D17S1192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,421,284 - 40,421,472UniSTSGRCh37
Build 361737,674,810 - 37,674,998RGDNCBI36
Celera242,854,346 - 42,855,778UniSTS
Celera1737,076,168 - 37,076,356RGD
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2UniSTS
HuRef1736,186,318 - 36,186,506UniSTS
HuRef242,749,655 - 42,751,087UniSTS
RH91495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,352,576 - 40,352,746UniSTSGRCh37
Build 361737,606,102 - 37,606,272RGDNCBI36
Celera1737,006,839 - 37,007,009RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,117,611 - 36,117,781UniSTS
GeneMap99-GB4 RH Map17306.94UniSTS
D17S1139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,359,426 - 40,359,578UniSTSGRCh37
Build 361737,612,952 - 37,613,104RGDNCBI36
Celera1737,013,689 - 37,013,841RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,124,462 - 36,124,612UniSTS
D17S1143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,353,522 - 40,353,618UniSTSGRCh37
Build 361737,607,048 - 37,607,144RGDNCBI36
Celera1737,007,785 - 37,007,881RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,118,557 - 36,118,653UniSTS
D17S1240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,407,446 - 40,407,651UniSTSGRCh37
Build 361737,660,972 - 37,661,177RGDNCBI36
Celera1737,062,330 - 37,062,535RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,172,490 - 36,172,695UniSTS
WI-11886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,351,201 - 40,351,350UniSTSGRCh37
Build 361737,604,727 - 37,604,876RGDNCBI36
Celera1737,005,464 - 37,005,613RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,116,236 - 36,116,385UniSTS
GeneMap99-GB4 RH Map17303.67UniSTS
Whitehead-RH Map17350.1UniSTS
NCBI RH Map17352.4UniSTS
STS-U48730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,353,524 - 40,353,751UniSTSGRCh37
Build 361737,607,050 - 37,607,277RGDNCBI36
Celera1737,007,787 - 37,008,014RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,118,559 - 36,118,786UniSTS
GeneMap99-GB4 RH Map17303.56UniSTS
NCBI RH Map17352.4UniSTS
STS-T90203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,353,676 - 40,353,874UniSTSGRCh37
Build 361737,607,202 - 37,607,400RGDNCBI36
Celera1737,007,939 - 37,008,137RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,118,711 - 36,118,910UniSTS
GeneMap99-GB4 RH Map17306.52UniSTS
NCBI RH Map17436.9UniSTS
SHGC-64296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,353,732 - 40,353,846UniSTSGRCh37
Build 361737,607,258 - 37,607,372RGDNCBI36
Celera1737,007,995 - 37,008,109RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,118,767 - 36,118,882UniSTS
TNG Radiation Hybrid Map1718905.0UniSTS
D17S1673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,352,503 - 40,352,746UniSTSGRCh37
Build 361737,606,029 - 37,606,272RGDNCBI36
Celera1737,006,766 - 37,007,009RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,117,538 - 36,117,781UniSTS
Whitehead-YAC Contig Map17 UniSTS
RH36528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,352,067 - 40,352,222UniSTSGRCh37
Build 361737,605,593 - 37,605,748RGDNCBI36
Celera1737,006,330 - 37,006,485RGD
Cytogenetic Map17q11.2UniSTS
HuRef1736,117,102 - 36,117,257UniSTS
GeneMap99-GB4 RH Map17309.42UniSTS
NCBI RH Map17474.9UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
RH45469  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q11.2UniSTS
GeneMap99-GB4 RH Map17309.01UniSTS
NCBI RH Map17474.9UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR23Bhsa-miR-23b-3pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:2261
Count of miRNA genes:1088
Interacting mature miRNAs:1356
Transcripts:ENST00000293328, ENST00000415845, ENST00000468312, ENST00000468496, ENST00000481253, ENST00000481517, ENST00000498674
Prediction methods:Miranda, Pita, 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.


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2426 2855 1697 600 1937 442 4353 2076 3550 407 1429 1596 171 1204 2788 3
Low 9 130 26 23 13 22 2 120 164 11 24 13 2 1
Below cutoff 2 3 1 1 11 1 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ412899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL040162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ815791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000293328   ⟹   ENSP00000293328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,199,177 - 42,276,391 (-)Ensembl
RefSeq Acc Id: ENST00000415845   ⟹   ENSP00000398379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,223,463 - 42,276,707 (-)Ensembl
RefSeq Acc Id: ENST00000468312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,217,690 - 42,276,406 (-)Ensembl
RefSeq Acc Id: ENST00000468496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,207,582 - 42,217,282 (-)Ensembl
RefSeq Acc Id: ENST00000481253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,207,559 - 42,210,592 (-)Ensembl
RefSeq Acc Id: ENST00000481517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,210,417 - 42,217,871 (-)Ensembl
RefSeq Acc Id: ENST00000498674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,202,103 - 42,202,953 (-)Ensembl
RefSeq Acc Id: NM_012448   ⟹   NP_036580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,199,177 - 42,276,391 (-)NCBI
GRCh371740,351,195 - 40,428,478 (-)NCBI
Build 361737,604,721 - 37,681,950 (-)NCBI Archive
HuRef1736,116,230 - 36,193,344 (-)ENTREZGENE
CHM1_11740,586,923 - 40,664,134 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257626   ⟹   XP_005257683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,214,202 - 42,276,460 (-)NCBI
GRCh371740,351,195 - 40,428,478 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024977   ⟹   XP_016880466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,199,177 - 42,276,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450897   ⟹   XP_024306665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,199,177 - 42,288,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450898   ⟹   XP_024306666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,199,177 - 42,268,512 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036580   ⟸   NM_012448
- UniProtKB: P51692 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257683   ⟸   XM_005257626
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016880466   ⟸   XM_017024977
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024306665   ⟸   XM_024450897
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024306666   ⟸   XM_024450898
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000293328   ⟸   ENST00000293328
RefSeq Acc Id: ENSP00000398379   ⟸   ENST00000415845
Protein Domains
SH2   STAT_int

Promoters
RGD ID:6794594
Promoter ID:HG_KWN:26182
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000319797,   OTTHUMT00000319798,   OTTHUMT00000319799
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,681,926 - 37,682,642 (-)MPROMDB
RGD ID:7235067
Promoter ID:EPDNEW_H23279
Type:initiation region
Name:STAT5B_3
Description:signal transducer and activator of transcription 5B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23280  EPDNEW_H23285  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,275,631 - 42,275,691EPDNEW
RGD ID:7235069
Promoter ID:EPDNEW_H23280
Type:initiation region
Name:STAT5B_1
Description:signal transducer and activator of transcription 5B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23279  EPDNEW_H23285  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,276,375 - 42,276,435EPDNEW
RGD ID:7235081
Promoter ID:EPDNEW_H23285
Type:initiation region
Name:STAT5B_2
Description:signal transducer and activator of transcription 5B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23279  EPDNEW_H23280  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,288,537 - 42,288,597EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012448.3(STAT5B):c.1596C>A (p.Phe532Leu) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000556627] Chr17:42212068 [GRCh38]
Chr17:40364086 [GRCh37]
Chr17:17q21.2
uncertain significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_012448.3(STAT5B):c.1888G>C (p.Ala630Pro) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006048] Chr17:42210189 [GRCh38]
Chr17:40362207 [GRCh37]
Chr17:17q21.2
pathogenic
STAT5B, 1-BP INS, 1191G insertion Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006049] Chr17:17q11.2 pathogenic
STAT5B, 1-BP INS, 1102C insertion Growth hormone insensitivity with immunodeficiency [RCV000006050] Chr17:17q11.2 pathogenic
NM_012448.3(STAT5B):c.454C>T (p.Arg152Ter) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006051] Chr17:42223478 [GRCh38]
Chr17:40375496 [GRCh37]
Chr17:17q21.2
pathogenic
STAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTION deletion Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006052] Chr17:17q11.2 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_012448.3(STAT5B):c.-10-17360A>G single nucleotide variant Lung cancer [RCV000100462] Chr17:42249497 [GRCh38]
Chr17:40401515 [GRCh37]
Chr17:17q21.2
uncertain significance
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
NM_012448.3(STAT5B):c.1581G>A (p.Lys527=) single nucleotide variant Malignant melanoma [RCV000063222] Chr17:42212083 [GRCh38]
Chr17:40364101 [GRCh37]
Chr17:37617627 [NCBI36]
Chr17:17q21.2
not provided
NM_012448.4(STAT5B):c.1619A>G (p.Asn540Ser) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001246433] Chr17:42212045 [GRCh38]
Chr17:40364063 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2237+15T>C single nucleotide variant not specified [RCV000175329] Chr17:42202325 [GRCh38]
Chr17:40354343 [GRCh37]
Chr17:17q21.2
benign
NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000544095]|not specified [RCV000180639] Chr17:42218219 [GRCh38]
Chr17:40370237 [GRCh37]
Chr17:17q21.2
benign
NM_012448.3(STAT5B):c.993G>A (p.Thr331=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000538129]|not specified [RCV000180640] Chr17:42218327 [GRCh38]
Chr17:40370345 [GRCh37]
Chr17:17q21.2
benign
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_012448.3(STAT5B):c.799C>G (p.Pro267Ala) single nucleotide variant not specified [RCV000238653] Chr17:42219346 [GRCh38]
Chr17:40371364 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.1569G>A (p.Arg523=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001079617]|not provided [RCV000260077] Chr17:42212095 [GRCh38]
Chr17:40364113 [GRCh37]
Chr17:17q21.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012448.3(STAT5B):c.247C>T (p.Leu83=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642182]|not specified [RCV000297966] Chr17:42227567 [GRCh38]
Chr17:40379585 [GRCh37]
Chr17:17q21.2
benign
NM_012448.3(STAT5B):c.1335A>G (p.Glu445=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000971309]|not specified [RCV000406641] Chr17:42217205 [GRCh38]
Chr17:40369223 [GRCh37]
Chr17:17q21.2
benign|likely benign
NM_012448.3(STAT5B):c.1058G>A (p.Arg353His) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001088577]|not provided [RCV000592373] Chr17:42218262 [GRCh38]
Chr17:40370280 [GRCh37]
Chr17:17q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012448.3(STAT5B):c.690C>T (p.Ala230=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000557388] Chr17:42219455 [GRCh38]
Chr17:40371473 [GRCh37]
Chr17:17q21.2
benign|likely benign
NM_012448.3(STAT5B):c.2098G>A (p.Val700Met) single nucleotide variant not provided [RCV000732454] Chr17:42202788 [GRCh38]
Chr17:40354806 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.280C>T (p.Leu94Phe) single nucleotide variant not provided [RCV000733294] Chr17:42227534 [GRCh38]
Chr17:40379552 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2185G>T (p.Ala729Ser) single nucleotide variant not provided [RCV000544863] Chr17:42202392 [GRCh38]
Chr17:40354410 [GRCh37]
Chr17:17q21.2
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_012448.3(STAT5B):c.1408G>A (p.Val470Ile) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642180] Chr17:42216079 [GRCh38]
Chr17:40368097 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.530A>C (p.Gln177Pro) single nucleotide variant Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV001254778]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000625745] Chr17:42223402 [GRCh38]
Chr17:40375420 [GRCh37]
Chr17:17q21.2
pathogenic
NM_012448.3(STAT5B):c.429G>C (p.Gln143His) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001086255]|not provided [RCV000731369] Chr17:42223503 [GRCh38]
Chr17:40375521 [GRCh37]
Chr17:17q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012448.3(STAT5B):c.798G>C (p.Gly266=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642184] Chr17:42219347 [GRCh38]
Chr17:40371365 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.3(STAT5B):c.551-5T>C single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642187] Chr17:42219847 [GRCh38]
Chr17:40371865 [GRCh37]
Chr17:17q21.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012448.3(STAT5B):c.319C>T (p.Arg107Cys) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642179] Chr17:42224835 [GRCh38]
Chr17:40376853 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2292C>T (p.Asp764=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642183] Chr17:42201810 [GRCh38]
Chr17:40353828 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.3(STAT5B):c.561C>T (p.Gly187=) single nucleotide variant not provided [RCV000642189] Chr17:42219832 [GRCh38]
Chr17:40371850 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.3(STAT5B):c.1421A>G (p.Gln474Arg) single nucleotide variant Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV001254780]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000625734] Chr17:42216066 [GRCh38]
Chr17:40368084 [GRCh37]
Chr17:17q21.2
pathogenic
NM_012448.3(STAT5B):c.1433C>T (p.Ala478Val) single nucleotide variant Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV001254779]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000625735] Chr17:42216054 [GRCh38]
Chr17:40368072 [GRCh37]
Chr17:17q21.2
pathogenic
NM_012448.3(STAT5B):c.1591G>A (p.Val531Met) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642178] Chr17:42212073 [GRCh38]
Chr17:40364091 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.1725C>T (p.Asp575=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000532245] Chr17:42210453 [GRCh38]
Chr17:40362471 [GRCh37]
Chr17:17q21.2
benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_012448.3(STAT5B):c.691G>A (p.Glu231Lys) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642181] Chr17:42219454 [GRCh38]
Chr17:40371472 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.550+7C>A single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642186] Chr17:42223375 [GRCh38]
Chr17:40375393 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.3(STAT5B):c.773G>A (p.Arg258Gln) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000701452] Chr17:42219372 [GRCh38]
Chr17:40371390 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2161G>A (p.Gly721Ser) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000694293]|not provided [RCV000788308] Chr17:42202416 [GRCh38]
Chr17:40354434 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2018G>A (p.Arg673Gln) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000697526] Chr17:42207617 [GRCh38]
Chr17:40359635 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2065G>A (p.Glu689Lys) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000690864] Chr17:42207570 [GRCh38]
Chr17:40359588 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.1102dup (p.Gln368fs) duplication Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000703112] Chr17:42218217..42218218 [GRCh38]
Chr17:40370235..40370236 [GRCh37]
Chr17:17q21.2
pathogenic
NM_012448.3(STAT5B):c.1529C>T (p.Ala510Val) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000694274] Chr17:42212135 [GRCh38]
Chr17:40364153 [GRCh37]
Chr17:17q21.2
likely benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_012448.4(STAT5B):c.795C>T (p.Gly265=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000893315] Chr17:42219350 [GRCh38]
Chr17:40371368 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1704C>T (p.Tyr568=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000944603] Chr17:42210474 [GRCh38]
Chr17:40362492 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000973748] Chr17:42218768 [GRCh38]
Chr17:40370786 [GRCh37]
Chr17:17q21.2
benign
NM_012448.4(STAT5B):c.975A>C (p.Ser325=) single nucleotide variant not provided [RCV000923238] Chr17:42218737 [GRCh38]
Chr17:40370755 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1995C>T (p.Tyr665=) single nucleotide variant not provided [RCV000927061] Chr17:42207640 [GRCh38]
Chr17:40359658 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.789G>A (p.Gly263=) single nucleotide variant not provided [RCV000924321] Chr17:42219356 [GRCh38]
Chr17:40371374 [GRCh37]
Chr17:17q21.2
benign
NM_012448.4(STAT5B):c.2004C>T (p.Tyr668=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000925432] Chr17:42207631 [GRCh38]
Chr17:40359649 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1218C>A (p.His406Gln) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001062229] Chr17:42217416 [GRCh38]
Chr17:40369434 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) deletion Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001042704] Chr17:42218218 [GRCh38]
Chr17:40370236 [GRCh37]
Chr17:17q21.2
pathogenic
NM_012448.4(STAT5B):c.1927C>T (p.Leu643=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000884958] Chr17:42207708 [GRCh38]
Chr17:40359726 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1971C>T (p.Ala657=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000898312] Chr17:42207664 [GRCh38]
Chr17:40359682 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1203C>T (p.Cys401=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000929703] Chr17:42217431 [GRCh38]
Chr17:40369449 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.2129+8T>G single nucleotide variant not provided [RCV000982309] Chr17:42202749 [GRCh38]
Chr17:40354767 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1323A>C (p.Thr441=) single nucleotide variant not provided [RCV000978092] Chr17:42217217 [GRCh38]
Chr17:40369235 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1113C>T (p.Ala371=) single nucleotide variant not provided [RCV000938406] Chr17:42218207 [GRCh38]
Chr17:40370225 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1551C>T (p.Ala517=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000982070] Chr17:42212113 [GRCh38]
Chr17:40364131 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.2130-8T>A single nucleotide variant not provided [RCV000941047] Chr17:42202455 [GRCh38]
Chr17:40354473 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1644C>T (p.Tyr548=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000917029] Chr17:42212020 [GRCh38]
Chr17:40364038 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.99T>C (p.Tyr33=) single nucleotide variant not provided [RCV000920221] Chr17:42232029 [GRCh38]
Chr17:40384047 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.2271C>T (p.Phe757=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000981368] Chr17:42201831 [GRCh38]
Chr17:40353849 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.3(STAT5B):c.787G>A (p.Gly263Arg) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000793190] Chr17:42219358 [GRCh38]
Chr17:40371376 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.550+5G>A single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000802655] Chr17:42223377 [GRCh38]
Chr17:40375395 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.1084G>A (p.Val362Met) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000817427] Chr17:42218236 [GRCh38]
Chr17:40370254 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2176A>G (p.Met726Val) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000804544] Chr17:42202401 [GRCh38]
Chr17:40354419 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.1924A>C (p.Asn642His) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000814132]|not provided [RCV001090842] Chr17:42207711 [GRCh38]
Chr17:40359729 [GRCh37]
Chr17:17q21.2
pathogenic|uncertain significance
NM_012448.3(STAT5B):c.2167G>A (p.Ala723Thr) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000824266] Chr17:42202410 [GRCh38]
Chr17:40354428 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2005G>A (p.Val669Met) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000800005] Chr17:42207630 [GRCh38]
Chr17:40359648 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.2098G>T (p.Val700Leu) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000814682] Chr17:42202788 [GRCh38]
Chr17:40354806 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.1337C>T (p.Ser446Phe) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000800159] Chr17:42217203 [GRCh38]
Chr17:40369221 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.1346G>A (p.Ser449Asn) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000804056] Chr17:42217194 [GRCh38]
Chr17:40369212 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.799C>T (p.Pro267Ser) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001217286]|not provided [RCV000788820] Chr17:42219346 [GRCh38]
Chr17:40371364 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.440C>T (p.Thr147Met) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000814771] Chr17:42223492 [GRCh38]
Chr17:40375510 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.650G>A (p.Arg217His) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000815221] Chr17:42219743 [GRCh38]
Chr17:40371761 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.3(STAT5B):c.637G>T (p.Ala213Ser) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000799135] Chr17:42219756 [GRCh38]
Chr17:40371774 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.840G>A (p.Glu280=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000981630] Chr17:42218872 [GRCh38]
Chr17:40370890 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.2344A>C (p.Ile782Leu) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001046851] Chr17:42201758 [GRCh38]
Chr17:40353776 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1307C>T (p.Thr436Ile) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001204975] Chr17:42217233 [GRCh38]
Chr17:40369251 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1845C>G (p.Phe615Leu) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001224393] Chr17:42210232 [GRCh38]
Chr17:40362250 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.2260G>A (p.Asp754Asn) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001223277] Chr17:42201842 [GRCh38]
Chr17:40353860 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1166G>A (p.Arg389His) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001225389] Chr17:42218154 [GRCh38]
Chr17:40370172 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.2186C>T (p.Ala729Val) single nucleotide variant not provided [RCV000996545] Chr17:42202391 [GRCh38]
Chr17:40354409 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV000996546] Chr17:42232069 [GRCh38]
Chr17:40384087 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.2097C>T (p.Tyr699=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000922419] Chr17:42202789 [GRCh38]
Chr17:40354807 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.989+9T>C single nucleotide variant not provided [RCV000909894] Chr17:42218714 [GRCh38]
Chr17:40370732 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.741C>T (p.Ile247=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000932419] Chr17:42219404 [GRCh38]
Chr17:40371422 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.849C>T (p.Ala283=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000909946] Chr17:42218863 [GRCh38]
Chr17:40370881 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.834-7C>T single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000909979] Chr17:42218885 [GRCh38]
Chr17:40370903 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.389C>T (p.Ala130Val) single nucleotide variant not provided [RCV000906900] Chr17:42223543 [GRCh38]
Chr17:40375561 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.853A>G (p.Ile285Val) single nucleotide variant STAT5B-related growth hormone insensitivity syndrome [RCV001095742] Chr17:42218859 [GRCh38]
Chr17:40370877 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001045313] Chr17:42202362 [GRCh38]
Chr17:40354380 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001227790] Chr17:42211998 [GRCh38]
Chr17:40364016 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1164C>T (p.Thr388=) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000889374] Chr17:42218156 [GRCh38]
Chr17:40370174 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.1935T>C (p.Pro645=) single nucleotide variant not provided [RCV000912646] Chr17:42207700 [GRCh38]
Chr17:40359718 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.582C>T (p.Pro194=) single nucleotide variant not provided [RCV000936053] Chr17:42219811 [GRCh38]
Chr17:40371829 [GRCh37]
Chr17:17q21.2
likely benign
NM_012448.4(STAT5B):c.178C>T (p.Leu60Phe) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001205794] Chr17:42227636 [GRCh38]
Chr17:40379654 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.2348C>T (p.Pro783Leu) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001051678] Chr17:42201754 [GRCh38]
Chr17:40353772 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.2185G>A (p.Ala729Thr) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001235107] Chr17:42202392 [GRCh38]
Chr17:40354410 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1462T>G (p.Phe488Val) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001207139] Chr17:42216025 [GRCh38]
Chr17:40368043 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1117A>G (p.Ile373Val) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001052090] Chr17:42218203 [GRCh38]
Chr17:40370221 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.1030A>C (p.Thr344Pro) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001218212] Chr17:42218290 [GRCh38]
Chr17:40370308 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.550+7C>T single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001027846] Chr17:42223375 [GRCh38]
Chr17:40375393 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.925G>C (p.Val309Leu) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001037331] Chr17:42218787 [GRCh38]
Chr17:40370805 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.539T>A (p.Leu180Gln) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001056148] Chr17:42223393 [GRCh38]
Chr17:40375411 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.13A>T (p.Ile5Leu) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001202890] Chr17:42232115 [GRCh38]
Chr17:40384133 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.464C>T (p.Thr155Met) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001039345] Chr17:42223468 [GRCh38]
Chr17:40375486 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.91C>T (p.Arg31Trp) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001253111] Chr17:42232037 [GRCh38]
Chr17:40384055 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.298C>T (p.Arg100Cys) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001267796] Chr17:42224856 [GRCh38]
Chr17:40376874 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr) single nucleotide variant Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001281001] Chr17:42201749 [GRCh38]
Chr17:40353767 [GRCh37]
Chr17:17q21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11367 AgrOrtholog
COSMIC STAT5B COSMIC
Ensembl Genes ENSG00000173757 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000293328 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398379 UniProtKB/TrEMBL
Ensembl Transcript ENST00000293328 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415845 UniProtKB/TrEMBL
Gene3D-CATH 1.10.532.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.630 UniProtKB/Swiss-Prot
  3.30.505.10 UniProtKB/Swiss-Prot
GTEx ENSG00000173757 GTEx
HGNC ID HGNC:11367 ENTREZGENE
Human Proteome Map STAT5B Human Proteome Map
InterPro p53-like_TF_DNA-bd UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
  SH2_dom_sf UniProtKB/Swiss-Prot
  STAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT5a/5b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT5b_SH2 UniProtKB/Swiss-Prot
  STAT_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAT_TF_alpha UniProtKB/Swiss-Prot
  STAT_TF_coiled-coil UniProtKB/Swiss-Prot
  STAT_TF_DNA-bd UniProtKB/Swiss-Prot
  STAT_TF_DNA-bd_N UniProtKB/Swiss-Prot
  STAT_TF_prot_interaction UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6777 UniProtKB/Swiss-Prot
NCBI Gene 6777 ENTREZGENE
OMIM 102578 OMIM
  245590 OMIM
  604260 OMIM
  618985 OMIM
PANTHER PTHR11801 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11801:SF47 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SH2 UniProtKB/Swiss-Prot
  STAT_alpha UniProtKB/Swiss-Prot
  STAT_bind UniProtKB/Swiss-Prot
  STAT_int UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36186 PharmGKB
PROSITE SH2 UniProtKB/Swiss-Prot
SMART SH2 UniProtKB/Swiss-Prot
  STAT_int UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47655 UniProtKB/Swiss-Prot
  SSF48092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49417 UniProtKB/Swiss-Prot
  SSF55550 UniProtKB/Swiss-Prot
UniProt C9J4I3_HUMAN UniProtKB/TrEMBL
  P51692 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8WWS8 UniProtKB/Swiss-Prot