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Aliases for STAT5B Gene

Aliases for STAT5B Gene

  • Signal Transducer And Activator Of Transcription 5B 2 3 5
  • Transcription Factor STAT5B 3
  • STAT5 3

External Ids for STAT5B Gene

Previous GeneCards Identifiers for STAT5B Gene

  • GC17U990099
  • GC17M042509
  • GC17M040259
  • GC17M040726
  • GC17M040724
  • GC17M037604
  • GC17M040351
  • GC17M036116

Summaries for STAT5B Gene

Entrez Gene Summary for STAT5B Gene

  • The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]

GeneCards Summary for STAT5B Gene

STAT5B (Signal Transducer And Activator Of Transcription 5B) is a Protein Coding gene. Diseases associated with STAT5B include Growth Hormone Insensitivity With Immunodeficiency and Acute Promyelocytic Leukemia. Among its related pathways are PEDF Induced Signaling and Chronic myeloid leukemia. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is STAT5A.

UniProtKB/Swiss-Prot for STAT5B Gene

  • 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. Positively regulates hematopoietic/erythroid differentiation.

Gene Wiki entry for STAT5B Gene

Additional gene information for STAT5B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAT5B Gene

Genomics for STAT5B Gene

GeneHancer (GH) Regulatory Elements for STAT5B Gene

Promoters and enhancers for STAT5B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I042266 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 561.6 +4.3 4267 12.8 MLX FEZF1 DMAP1 YY1 E2F8 SP3 MEF2D GLIS1 RCOR2 NBN STAT5B ENSG00000236194 CNTNAP1 TUBG2 ENSG00000259623 ENSG00000267765 HSD17B1P1 DHX58 STAT5A STAT3
GH17I042245 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 35 +25.4 25378 11 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF213 STAT5B STAT5A HMGN1P29 ENSG00000267758 GHDC HCRT KCNH4 RPL27 NAGLU PLEKHH3
GH17I042308 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -39.3 -39349 15.9 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF263 MEF2D GC17M042314 HMGN1P29 STAT5A ENSG00000267758 ACLY NBR2 ENSG00000267340 PLEKHH3 STAT5B ATP6V0A1
GH17I042222 Enhancer 1 ENCODE dbSUPER 12.2 +54.3 54349 0.2 HDAC1 HDGF YBX3 ZSCAN4 NFXL1 RAD21 ZNF280A POLR2B ZNF354C ARID2 ENSG00000267340 ENSG00000267002 NBR2 CNTNAP1 ENSG00000267765 TUBG2 CNTD1 NKIRAS2 KAT2A JUP
GH17I042198 Enhancer 1.1 Ensembl ENCODE dbSUPER 11 +76.2 76169 4.3 HDGF FOXA2 SAP130 TEAD4 TAL1 MAX EBF1 DMAP1 TCF12 POLR2A STAT5B ENSG00000236194 DHX58 CNP NT5C3B GHDC ENSG00000280295
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STAT5B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STAT5B gene promoter:

Genomic Locations for STAT5B Gene

Genomic Locations for STAT5B Gene
chr17:42,199,168-42,276,707
(GRCh38/hg38)
Size:
77,540 bases
Orientation:
Minus strand
chr17:40,351,186-40,428,725
(GRCh37/hg19)

Genomic View for STAT5B Gene

Genes around STAT5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAT5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAT5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAT5B Gene

Proteins for STAT5B Gene

  • Protein details for STAT5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51692-STA5B_HUMAN
    Recommended name:
    Signal transducer and activator of transcription 5B
    Protein Accession:
    P51692
    Secondary Accessions:
    • Q8WWS8

    Protein attributes for STAT5B Gene

    Size:
    787 amino acids
    Molecular mass:
    89866 Da
    Quaternary structure:
    • Forms a homodimer or a heterodimer with a related family member. Binds NR3C1 (By similarity). Interacts with NCOA1 (PubMed:12954634). Interacts with NMI (PubMed:9989503). Interacts with SOCS7 (PubMed:15677474). Interacts (via SH2 domain) with INSR (PubMed:9428692). Interacts with CPEB3; this inhibits STAT5B-mediated transcriptional activation (PubMed:20639532).

neXtProt entry for STAT5B Gene

Post-translational modifications for STAT5B Gene

  • 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. Phosphorylation at Tyr-699 by PTK6 or HCK leads to an increase of its transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STAT5B Gene

No data available for DME Specific Peptides for STAT5B Gene

Domains & Families for STAT5B Gene

Gene Families for STAT5B Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for STAT5B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51692

UniProtKB/Swiss-Prot:

STA5B_HUMAN :
  • Belongs to the transcription factor STAT family.
Family:
  • Belongs to the transcription factor STAT family.
genes like me logo Genes that share domains with STAT5B: view

Function for STAT5B Gene

Molecular function for STAT5B Gene

GENATLAS Biochemistry:
signal transducer and activator of transcription 5B,constitutively expressed in peripheral blood lymphocyte,activated by interleukin 2,also expressed in liver fibroblast,activated by GH,maybe involved in GH binding protein positive Laron syndrome children,interacting with T cell receptor and stimulating T cell proliferation
UniProtKB/Swiss-Prot 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. Positively regulates hematopoietic/erythroid differentiation.

Phenotypes From GWAS Catalog for STAT5B Gene

Gene Ontology (GO) - Molecular Function for STAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding ISS --
genes like me logo Genes that share ontologies with STAT5B: view
genes like me logo Genes that share phenotypes with STAT5B: view

Human Phenotype Ontology for STAT5B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STAT5B Gene

MGI Knock Outs for STAT5B:

Transcription Factor Targets for STAT5B Gene

Selected GeneGlobe predicted Target genes for STAT5B

Clone Products

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for STAT5B Gene

Localization for STAT5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAT5B Gene

Cytoplasm. Nucleus. Note=Translocated into the nucleus in response to phosphorylation. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STAT5B gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for STAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with STAT5B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STAT5B Gene

Pathways & Interactions for STAT5B Gene

genes like me logo Genes that share pathways with STAT5B: view

SIGNOR curated interactions for STAT5B Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for STAT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000255 allantoin metabolic process ISS --
GO:0001553 luteinization IEA --
GO:0001779 natural killer cell differentiation IEA --
GO:0006101 citrate metabolic process IEA,ISS --
GO:0006103 2-oxoglutarate metabolic process ISS,IEA --
genes like me logo Genes that share ontologies with STAT5B: view

Drugs & Compounds for STAT5B Gene

(15) Drugs for STAT5B Gene - From: DrugBank, DGIdb, FDA Approved Drugs, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dasatinib Approved, Investigational Pharma Target, inhibitor, Inhibition Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 295
Sprycel Approved June 2006 Pharma 0

(11) Additional Compounds for STAT5B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STAT5B: view

Transcripts for STAT5B Gene

Unigene Clusters for STAT5B Gene

Signal transducer and activator of transcription 5B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STAT5B Gene

No ASD Table

Relevant External Links for STAT5B Gene

GeneLoc Exon Structure for
STAT5B
ECgene alternative splicing isoforms for
STAT5B

Expression for STAT5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STAT5B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STAT5B Gene

This gene is overexpressed in Whole Blood (x7.2).

Protein differential expression in normal tissues from HIPED for STAT5B Gene

This gene is overexpressed in Lymph node (9.4), Peripheral blood mononuclear cells (7.8), and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STAT5B Gene



Protein tissue co-expression partners for STAT5B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STAT5B Gene:

STAT5B

SOURCE GeneReport for Unigene cluster for STAT5B Gene:

Hs.595276

Evidence on tissue expression from TISSUES for STAT5B Gene

  • Nervous system(3.7)
  • Blood(3.6)
  • Bone marrow(3.1)
  • Liver(3)
  • Muscle(2.8)
  • Spleen(2.8)
  • Intestine(2.7)
  • Kidney(2.7)
  • Lymph node(2.7)
  • Lung(2.4)
  • Skin(2.3)
  • Heart(2.2)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STAT5B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • immune
  • lymphatic
  • respiratory
Regions:
Head and neck:
  • head
  • pituitary gland
Thorax:
  • lung
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with STAT5B: view

No data available for mRNA Expression by UniProt/SwissProt for STAT5B Gene

Orthologs for STAT5B Gene

This gene was present in the common ancestor of animals.

Orthologs for STAT5B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAT5B 34 33
  • 96.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STAT5B 33 34
  • 92.63 (n)
cow
(Bos Taurus)
Mammalia STAT5B 33 34
  • 92.59 (n)
rat
(Rattus norvegicus)
Mammalia Stat5b 33
  • 90.67 (n)
mouse
(Mus musculus)
Mammalia Stat5b 33 16 34
  • 90.42 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves STAT5 34
  • 91 (a)
OneToMany
STAT5B 33
  • 82.38 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia stat5b 33
  • 77.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12087 33
zebrafish
(Danio rerio)
Actinopterygii stat5.2 34
  • 74 (a)
ManyToMany
stat5.1 33 34
  • 73.03 (n)
stat5b 33
fruit fly
(Drosophila melanogaster)
Insecta Stat92E 35 34
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea sta-1 33 34
  • 42.12 (n)
Y51H4A.17 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3791 34
  • 49 (a)
OneToMany
Species where no ortholog for STAT5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STAT5B Gene

ENSEMBL:
Gene Tree for STAT5B (if available)
TreeFam:
Gene Tree for STAT5B (if available)

Paralogs for STAT5B Gene

Paralogs for STAT5B Gene

(5) SIMAP similar genes for STAT5B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with STAT5B: view

Variants for STAT5B Gene

Sequence variations from dbSNP and Humsavar for STAT5B Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs121908501 pathogenic, Growth hormone insensitivity with immunodeficiency, Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] 42,210,189(-) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121908502 pathogenic, Growth hormone insensitivity with immunodeficiency 42,223,478(-) G/A coding_sequence_variant, stop_gained
rs200042237 likely-benign, Growth hormone insensitivity with immunodeficiency 42,202,392(-) C/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs555155085 likely-benign, Growth hormone insensitivity with immunodeficiency 42,219,455(-) G/A coding_sequence_variant, synonymous_variant
rs59491077 benign, not specified, Growth hormone insensitivity with immunodeficiency 42,218,327(-) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for STAT5B Gene

Variant ID Type Subtype PubMed ID
dgv5599n54 CNV gain 21841781
esv2450397 CNV deletion 19546169
esv24591 CNV loss 19812545
nsv1056904 CNV gain 25217958
nsv1071385 CNV deletion 25765185
nsv1138540 CNV deletion 24896259
nsv1138541 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv575042 CNV loss 21841781
nsv575043 CNV gain 21841781
nsv575044 CNV loss 21841781
nsv575046 CNV gain+loss 21841781
nsv833449 CNV loss 17160897

Variation tolerance for STAT5B Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STAT5B Gene

Human Gene Mutation Database (HGMD)
STAT5B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAT5B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAT5B Gene

Disorders for STAT5B Gene

MalaCards: The human disease database

(21) MalaCards diseases for STAT5B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
growth hormone insensitivity with immunodeficiency
  • laron syndrome due to postreceptor defect
acute promyelocytic leukemia
  • apl
laron syndrome
  • growth hormone insensitivity syndrome
t-cell large granular lymphocyte leukemia
  • large granular lymphocytic leukemia
large granular lymphocyte leukemia
  • t-cell large granular lymphocyte leukemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

STA5B_HUMAN
  • 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. {ECO:0000269 PubMed:13679528, ECO:0000269 PubMed:15827093, ECO:0000269 PubMed:22419735}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for STAT5B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with STAT5B: view

No data available for Genatlas for STAT5B Gene

Publications for STAT5B Gene

  1. Cloning of human Stat5B. Reconstitution of interleukin-2-induced Stat5A and Stat5B DNA binding activity in COS-7 cells. (PMID: 8631883) Lin JX … Leonard WJ (The Journal of biological chemistry 1996) 2 3 4 22 58
  2. Signal transducer and activator of transcription 5b: a new target of breast tumor kinase/protein tyrosine kinase 6. (PMID: 17997837) Weaver AM … Silva CM (Breast cancer research : BCR 2007) 3 4 22 58
  3. Characterization and cloning of STAT5 from IM-9 cells and its activation by growth hormone. (PMID: 8732682) Silva CM … Day RN (Molecular endocrinology (Baltimore, Md.) 1996) 3 4 22 58
  4. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58

Products for STAT5B Gene

Sources for STAT5B Gene