Gene Gene information from NCBI Gene database.
Entrez ID 6777
Gene name Signal transducer and activator of transcription 5B
Gene symbol STAT5B
Synonyms (NCBI Gene)
GHISID2STAT5
Chromosome 17
Chromosome location 17q21.2
Summary 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.
9
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.
273
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 ImmunoblotLuciferase reporter assayqRT-PCRWestern blot 24440911
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ZNF382 Repression 20682794
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
107
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604260 11367 ENSG00000173757
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
454
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial prostate cancer Likely pathogenic rs750399917 RCV005912596
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant Likely pathogenic; Pathogenic rs2508724440, rs1555548680, rs1555549674 RCV003158006
RCV001254780
RCV001254778
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Likely pathogenic; Pathogenic rs750399917, rs767959957, rs778995803, rs2144267361, rs2080191165, rs2144219508, rs2508776887, rs2508803926, rs121908501, rs2508751004, rs121908502, rs2508731535, rs1202978138, rs2508803545, rs1000458475
View all (6 more)
RCV001377593
RCV001387244
RCV001898567
RCV001937990
RCV001960505
RCV002246745
RCV002811147
RCV002830220
RCV000006048
RCV000006049
RCV000006051
RCV000006052
RCV003054595
RCV003506657
RCV003614555
RCV003614753
RCV003614997
RCV003818554
RCV000625734
RCV000625745
RCV000703112
RCV001042704
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Benign rs201981865 RCV005914319
Growth hormone insensitivity syndrome with immune dysregulation Uncertain significance rs1031852875 RCV003458609
Neoplasm Conflicting classifications of pathogenicity rs938448224 RCV005231378
Short stature Uncertain significance rs138255473 RCV005235505
Associations from Text MiningDisease 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