Human Gene STAT5B (ENST00000293328.8_9) from GENCODE V47lift37
  Description: signal transducer and activator of transcription 5B (from RefSeq NM_012448.4)
Gencode Transcript: ENST00000293328.8_9
Gencode Gene: ENSG00000173757.11_12
Transcript (Including UTRs)
   Position: hg19 chr17:40,351,195-40,428,409 Size: 77,215 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr17:40,353,756-40,384,145 Size: 30,390 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:40,351,195-40,428,409)mRNA (may differ from genome)Protein (787 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: STA5B_HUMAN
DESCRIPTION: RecName: Full=Signal transducer and activator of transcription 5B;
FUNCTION: Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription.
SUBUNIT: Forms a homodimer or a heterodimer with a related family member. Binds NR3C1 (By similarity). Interacts with NCOA1, NMI and SOCS7. Interacts (via SH2 domain) with INSR.
INTERACTION: Q96EY1:DNAJA3; NbExp=2; IntAct=EBI-1186119, EBI-356767; Q13287:NMI; NbExp=7; IntAct=EBI-1186119, EBI-372942;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). Note=Translocated into the nucleus in response to phosphorylation (By similarity).
PTM: Tyrosine phosphorylated in response to signaling via activated KIT, resulting in translocation to the nucleus. Tyrosine phosphorylated in response to signaling via activated FLT3; wild- type FLT3 results in much weaker phosphorylation than constitutively activated mutant FLT3. Alternatively, can be phosphorylated by JAK2. Phosphoryation at Tyr-699 by PTK6 or HCK leads to an increase of its transcriptional activity.
DISEASE: Defects in STAT5B are the cause of growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590]. A disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to hexogeneous growth hormone therapy, and recurrent infections.
SIMILARITY: Belongs to the transcription factor STAT family.
SIMILARITY: Contains 1 SH2 domain.
WEB RESOURCE: Name=STAT5Bbase; Note=STAT5B mutation db; URL="http://bioinf.uta.fi/STAT5Bbase/";
WEB RESOURCE: Name=Wikipedia; Note=STAT5 entry; URL="http://en.wikipedia.org/wiki/STAT5";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: STAT5B
Diseases sorted by gene-association score: growth hormone insensitivity with immunodeficiency* (1680), leukemia, acute promyelocytic, somatic* (862), laron dwarfism (11), chronic leukemia (10), jak3-deficient severe combined immunodeficiency (9), essential thrombocythemia (9), myeloproliferative neoplasm (7), b cell linker protein deficiency (6), erythrocytosis, somatic (6), myelofibrosis with myeloid metaplasia, somatic (6), estrogen-receptor positive breast cancer (6), cellular congenital mesoblastic nephroma (6), growth hormone deficiency, isolated, type ii (4), anemia of prematurity (4), bone marrow cancer (2), leukemia, chronic myeloid, somatic (2), hematologic cancer (2), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 72.25 RPKM in Whole Blood
Total median expression: 1340.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.10154-0.481 Picture PostScript Text
3' UTR -867.602561-0.339 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR008967 - p53-like_TF_DNA-bd
IPR000980 - SH2
IPR013800 - STAT_TF_alpha
IPR015988 - STAT_TF_coiled-coil
IPR001217 - STAT_TF_core
IPR013801 - STAT_TF_DNA-bd
IPR012345 - STAT_TF_DNA-bd_sub
IPR013799 - STAT_TF_prot_interaction

Pfam Domains:
PF00017 - SH2 domain
PF01017 - STAT protein, all-alpha domain
PF02864 - STAT protein, DNA binding domain
PF02865 - STAT protein, protein interaction domain

SCOP Domains:
47655 - STAT
48092 - Transcription factor STAT-4 N-domain
49417 - p53-like transcription factors
55550 - SH2 domain

ModBase Predicted Comparative 3D Structure on P51692
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0004713 protein tyrosine kinase activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0035259 glucocorticoid receptor binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0000255 allantoin metabolic process
GO:0001553 luteinization
GO:0001779 natural killer cell differentiation
GO:0006101 citrate metabolic process
GO:0006103 2-oxoglutarate metabolic process
GO:0006105 succinate metabolic process
GO:0006107 oxaloacetate metabolic process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0006549 isoleucine metabolic process
GO:0006573 valine metabolic process
GO:0006600 creatine metabolic process
GO:0006631 fatty acid metabolic process
GO:0007165 signal transduction
GO:0007259 JAK-STAT cascade
GO:0007548 sex differentiation
GO:0007565 female pregnancy
GO:0007595 lactation
GO:0008284 positive regulation of cell proliferation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0019218 regulation of steroid metabolic process
GO:0019221 cytokine-mediated signaling pathway
GO:0019530 taurine metabolic process
GO:0019915 lipid storage
GO:0030155 regulation of cell adhesion
GO:0030856 regulation of epithelial cell differentiation
GO:0032355 response to estradiol
GO:0032819 positive regulation of natural killer cell proliferation
GO:0032825 positive regulation of natural killer cell differentiation
GO:0032870 cellular response to hormone stimulus
GO:0033077 T cell differentiation in thymus
GO:0035723 interleukin-15-mediated signaling pathway
GO:0038110 interleukin-2-mediated signaling pathway
GO:0038111 interleukin-7-mediated signaling pathway
GO:0040014 regulation of multicellular organism growth
GO:0040018 positive regulation of multicellular organism growth
GO:0042104 positive regulation of activated T cell proliferation
GO:0042448 progesterone metabolic process
GO:0043029 T cell homeostasis
GO:0043066 negative regulation of apoptotic process
GO:0045086 positive regulation of interleukin-2 biosynthetic process
GO:0045579 positive regulation of B cell differentiation
GO:0045588 positive regulation of gamma-delta T cell differentiation
GO:0045621 positive regulation of lymphocyte differentiation
GO:0045647 negative regulation of erythrocyte differentiation
GO:0045648 positive regulation of erythrocyte differentiation
GO:0045931 positive regulation of mitotic cell cycle
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0045954 positive regulation of natural killer cell mediated cytotoxicity
GO:0046449 creatinine metabolic process
GO:0046543 development of secondary female sexual characteristics
GO:0046544 development of secondary male sexual characteristics
GO:0048541 Peyer's patch development
GO:0050729 positive regulation of inflammatory response
GO:0060397 JAK-STAT cascade involved in growth hormone signaling pathway
GO:0070669 response to interleukin-2
GO:0070670 response to interleukin-4
GO:0070672 response to interleukin-15
GO:0071363 cellular response to growth factor stimulus
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0097531 mast cell migration

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB208920 - Homo sapiens mRNA for signal transducer and activator of transcription 5B variant protein.
BC065227 - Homo sapiens signal transducer and activator of transcription 5B, mRNA (cDNA clone MGC:74606 IMAGE:5553426), complete cds.
FW339982 - Screening.
U48730 - Homo sapiens transcription factor Stat5b (stat5b) mRNA, complete cds.
U47686 - Human signal transducer and activator of transcription Stat5B mRNA, complete cds.
AK308163 - Homo sapiens cDNA, FLJ98111.
EU446501 - Synthetic construct Homo sapiens clone IMAGE:100070361; IMAGE:100011710; FLH257276.01L signal transducer and activator of transcription 5B (STAT5B) gene, encodes complete protein.
AB384774 - Synthetic construct DNA, clone: pF1KB3281, Homo sapiens STAT5B gene for signal transducer and activator of transcription 5B, complete cds, without stop codon, in Flexi system.
BC020868 - Homo sapiens signal transducer and activator of transcription 5B, mRNA (cDNA clone IMAGE:4605440), complete cds.
KJ901768 - Synthetic construct Homo sapiens clone ccsbBroadEn_11162 STAT5B gene, encodes complete protein.
BC029072 - Homo sapiens cDNA clone IMAGE:4388551.
AL080218 - Homo sapiens mRNA; cDNA DKFZp586N1323 (from clone DKFZp586N1323).
JD368202 - Sequence 349226 from Patent EP1572962.
JD173177 - Sequence 154201 from Patent EP1572962.
JD460624 - Sequence 441648 from Patent EP1572962.
JD132637 - Sequence 113661 from Patent EP1572962.
DQ587926 - Homo sapiens piRNA piR-55038, complete sequence.
CU676758 - Synthetic construct Homo sapiens gateway clone IMAGE:100022302 5' read STAT5B mRNA.
JD138455 - Sequence 119479 from Patent EP1572962.
JD394658 - Sequence 375682 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_il22bppathway - IL22 Soluble Receptor Signaling Pathway
h_il3Pathway - IL 3 signaling pathway
h_il7Pathway - IL-7 Signal Transduction
h_epoPathway - EPO Signaling Pathway
h_pparaPathway - Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)
h_gleevecpathway - Inhibition of Cellular Proliferation by Gleevec
h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation
h_TPOPathway - TPO Signaling Pathway
h_ghPathway - Growth Hormone Signaling Pathway
h_il2Pathway - IL 2 signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P51692 (Reactome details) participates in the following event(s):

R-HSA-380782 STAT binds to the active receptor
R-HSA-452108 Phosphorylation of IL2RB Y338, Y392 or Y510 enables STAT recruitment
R-HSA-879930 STAT5 is recruited by JAK2
R-HSA-1168393 STAT5 association with GHR
R-HSA-1369080 PRLR binds STAT5
R-HSA-1839112 Phosphorylation of STAT5 by cytosolic FGFR1 fusions
R-HSA-2671855 Phosphorylated LEPR Binds STAT5
R-HSA-1433456 Recruitment of STATs
R-HSA-452102 p-STAT5 dimerizes
R-HSA-919404 Phosphorylated STAT5 is released
R-HSA-921155 p-STAT5 dissociates from the receptor complex
R-HSA-1168894 p-STAT5A/B dissociates from the Growth Hormone receptor
R-HSA-2671876 Phosphorylated STAT5 Dissociates from Leptin Receptor
R-HSA-6785165 p-STAT5A, p-STAT5B dissociate from IL7:p-Y449-IL7R:JAK1:IL2RG:p-JAK3:p-STAT5A,p-STAT5B
R-HSA-452097 Recruited STAT5 is phosphorylated
R-HSA-1168394 STAT5 tyrosine phosphorylation
R-HSA-1671691 PRLR-bound STAT5 is phosphorylated
R-HSA-2671829 JAK2 Phosphorylates STAT5 in Response to Leptin
R-HSA-1470010 Dimerization of STATs
R-HSA-8865626 p-STAT5 dimers bind the BRWD1 gene promoter
R-HSA-1470012 Disassociation and translocation of STATs to the nucleus
R-HSA-879909 Activation of STAT5a/b by JAK2
R-HSA-186763 Downstream signal transduction
R-HSA-9020558 Interleukin-2 signaling
R-HSA-512988 Interleukin-3, 5 and GM-CSF signaling
R-HSA-982772 Growth hormone receptor signaling
R-HSA-1170546 Prolactin receptor signaling
R-HSA-1839117 Signaling by cytosolic FGFR1 fusion mutants
R-HSA-2586552 Signaling by Leptin
R-HSA-1266695 Interleukin-7 signaling
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-8983432 Interleukin-15 signaling
R-HSA-186797 Signaling by PDGF
R-HSA-451927 Interleukin-2 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-1839124 FGFR1 mutant receptor activation
R-HSA-162582 Signal Transduction
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-9020958 Interleukin-21 signaling
R-HSA-8854691 Interleukin-20 family signaling
R-HSA-168256 Immune System
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000293328.1, ENST00000293328.2, ENST00000293328.3, ENST00000293328.4, ENST00000293328.5, ENST00000293328.6, ENST00000293328.7, NM_012448, P51692, Q8WWS8, STA5B_HUMAN, uc317ldh.1, uc317ldh.2
UCSC ID: ENST00000293328.8_9
RefSeq Accession: NM_012448.4
Protein: P51692 (aka STA5B_HUMAN or ST5B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.