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STAT5B (signal transducer and activator of transcription 5B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6777
Gene nameGene Name - the full gene name approved by the HGNC.
Signal transducer and activator of transcription 5B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
STAT5B
SynonymsGene synonyms aliases
GHISID2, STAT5
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma Asthma, Childhood asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 31036433
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259
Growth hormone insensitivity with immune dysregulation Laron syndrome with immunodeficiency rs121908501, rs121908502, rs1555548680, rs1555548678, rs1555549674, rs761761205
Unknown
Disease name Disease term dbSNP ID References
Anorexia Anorexia
Diffuse alveolar hemorrhage Diffuse alveolar hemorrhage
Disseminated intravascular coagulation Disseminated Intravascular Coagulation
Dwarfism Dwarfism

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