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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial prostate cancer Likely pathogenic rs750399917 RCV005912596
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant Likely pathogenic; Pathogenic rs2508724440, rs1555548680, rs1555549674 RCV003158006
RCV001254780
RCV001254778
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (17 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia Achondroplasia BEFREE 19802676
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 30064289
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 25572535
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 20667821, 8861946
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 9498707
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18193087, 20227268, 21606506, 22685175, 30784762, 8634413
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28667329
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 11022230, 11929748, 16331271, 17988991, 18221386, 22749039, 31083206
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia LHGDN 11929748
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia ORPHANET_DG 18221386
★☆☆☆☆
Found in Text Mining only