Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6777
Gene name Gene Name - the full gene name approved by the HGNC.
Signal transducer and activator of transcription 5B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STAT5B
Synonyms (NCBI Gene) Gene synonyms aliases
GHISID2, STAT5
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez 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 tran
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908501 C>G Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs121908502 G>A Pathogenic Coding sequence variant, stop gained
rs143171571 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs143172354 C>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, genic downstream transcript variant
rs148793995 C>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023476 hsa-miR-23b-3p Sequencing 20371350
MIRT042849 hsa-miR-324-3p CLASH 23622248
MIRT038811 hsa-miR-93-3p CLASH 23622248
MIRT036362 hsa-miR-1229-3p CLASH 23622248
MIRT054842 hsa-miR-134-5p Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 24440911
Transcription factors
Transcription factor Regulation Reference
ZNF382 Repression 20682794
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604260 11367 ENSG00000173757
Protein
UniProt ID P51692
Protein name Signal transducer and activator of transcription 5B
Protein function Carries out a dual function: signal transduction and activation of transcription (PubMed:29844444). Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription.
PDB 6MBW , 6MBZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02865 STAT_int 2 124 STAT protein, protein interaction domain Domain
PF01017 STAT_alpha 141 324 STAT protein, all-alpha domain Family
PF02864 STAT_bind 336 469 STAT protein, DNA binding domain Domain
PF00017 SH2 589 670 SH2 domain Domain
Sequence
Sequence length 787
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ErbB signaling pathway
Chemokine signaling pathway
Hormone signaling
Necroptosis
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Prolactin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Hepatitis B
Measles
Human T-cell leukemia virus 1 infection
Pathways in cancer
Viral carcinogenesis
Chemical carcinogenesis - receptor activation
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
  Interleukin-7 signaling
Signaling by SCF-KIT
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
Signaling by Leptin
Interleukin-3, Interleukin-5 and GM-CSF signaling
Interleukin-20 family signaling
Interleukin-15 signaling
Interleukin-9 signaling
Interleukin-2 signaling
Interleukin-21 signaling
Growth hormone receptor signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Growth Hormone Insensitivity With Immune Dysregulation Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive rs1555548678, rs1555549674, rs761761205, rs121908501, rs121908502, rs1555548680 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma, Asthma (childhood onset) N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
neoplasm Neoplasm N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 34670919
Anemia Aplastic Associate 25800665
Anovulation Associate 40287692
Autoimmune Diseases Associate 33090292, 34670919
Breast Neoplasms Associate 11751923, 12759236, 17822672, 17997837, 18550772, 19630967, 21205088, 25104439, 25973100, 26735495, 28422733, 29326301, 9813040
Breast Neoplasms Inhibit 36862902
Carcinogenesis Associate 17997837
Carcinoma Basal Cell Associate 23774526
Carcinoma Hepatocellular Associate 31485610
Carcinoma Non Small Cell Lung Stimulate 25137041