Gene Gene information from NCBI Gene database.
Entrez ID 6774
Gene name Signal transducer and activator of transcription 3
Gene symbol STAT3
Synonyms (NCBI Gene)
ADMIOADMIO1APRFHIES
Chromosome 17
Chromosome location 17q21.2
Summary The protein encoded by this gene is a member of the STAT protein family. 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 ce
SNPs SNP information provided by dbSNP.
56
SNP ID Visualize variation Clinical significance Consequence
rs113994135 G>A Pathogenic Coding sequence variant, missense variant
rs113994136 C>A,T Pathogenic Coding sequence variant, missense variant
rs113994137 C>T Pathogenic Coding sequence variant, missense variant
rs113994138 CAC>- Pathogenic Coding sequence variant, inframe deletion
rs113994139 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
891
miRTarBase ID miRNA Experiments Reference
MIRT000497 hsa-miR-20b-5p qRT-PCRELISAChIPWestern blot 20232316
MIRT005006 hsa-miR-125b-5p Microarray 17891175
MIRT006959 hsa-miR-337-3p Luciferase reporter assayqRT-PCRWestern blot 22723956
MIRT021003 hsa-miR-155-5p Proteomics 18668040
MIRT028178 hsa-miR-93-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
14
Transcription factor Regulation Reference
BCL6 Unknown 17951530
BRCA1 Unknown 11163768
CEBPA Unknown 24429361
HDAC1 Unknown 18611949
HIC1 Activation 24067369
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
237
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 8675499
GO:0000785 Component Chromatin IDA 16835372
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 17324931
GO:0000976 Function Transcription cis-regulatory region binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
102582 11364 ENSG00000168610
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40763
Protein name Signal transducer and activator of transcription 3 (Acute-phase response factor)
Protein function Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194700, PubMed:15653507, PubMed:16285960, PubMed
PDB 5AX3 , 5U5S , 6NJS , 6NUQ , 6QHD , 6TLC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02865 STAT_int 2 120 STAT protein, protein interaction domain Domain
PF01017 STAT_alpha 141 313 STAT protein, all-alpha domain Family
PF02864 STAT_bind 325 464 STAT protein, DNA binding domain Domain
PF00017 SH2 584 674 SH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in naive CD4(+) T cells as well as T-helper Th17, Th1 and Th2 cells (PubMed:31899195). {ECO:0000269|PubMed:31899195}.
Sequence
Sequence length 770
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  EGFR tyrosine kinase inhibitor resistance
Chemokine signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Hormone signaling
Necroptosis
Signaling pathways regulating pluripotency of stem cells
JAK-STAT signaling pathway
Th17 cell differentiation
Prolactin signaling pathway
Adipocytokine signaling pathway
Insulin resistance
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Toxoplasmosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Pancreatic cancer
Acute myeloid leukemia
Non-small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Lipid and atherosclerosis
  Interleukin-6 signaling
BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
Interleukin-7 signaling
Signaling by SCF-KIT
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
Senescence-Associated Secretory Phenotype (SASP)
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Transcriptional regulation of pluripotent stem cells
Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling
PTK6 Activates STAT3
Interleukin-20 family signaling
MET activates STAT3
Interleukin-15 signaling
Interleukin-35 Signalling
Interleukin-9 signaling
Interleukin-37 signaling
Interleukin-23 signaling
Interleukin-27 signaling
Interleukin-21 signaling
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1274
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyper-IgE recurrent infection syndrome 1, autosomal dominant Likely pathogenic; Pathogenic rs2144697778, rs2081903545, rs2144683205, rs2144773624, rs1567708034, rs2144622906, rs2144832509, rs2144778323, rs2144622987, rs2144683531, rs2144827923, rs2144683683, rs2509391311, rs2144691401, rs2509118228
View all (38 more)
RCV001594427
RCV001343329
RCV001378695
RCV001378195
RCV001380075
RCV001823640
RCV001995210
RCV001912793
RCV001967161
RCV001950022
RCV003096208
RCV002284058
RCV002469940
RCV002469941
RCV003041301
RCV003041304
RCV003041305
RCV003050468
RCV003064439
RCV003050469
RCV003084909
RCV002635401
RCV002975063
RCV003021538
RCV000653278
RCV001302951
RCV000653281
RCV003142263
RCV000792133
RCV003783708
RCV003783710
RCV003797364
RCV000019965
RCV000019966
RCV000019967
RCV000019968
RCV000019969
RCV000019970
RCV004547343
RCV002521588
RCV001216892
RCV003987557
RCV003139697
RCV000695153
RCV000605582
RCV005222989
RCV000811844
RCV000030463
RCV000030464
RCV000030469
RCV000030470
RCV000030471
RCV000556500
RCV000585688
RCV000822142
RCV000054835
RCV000989849
RCV001054381
RCV001220202
RCV001302950
Hyper-IgE syndrome Likely pathogenic; Pathogenic rs886039434, rs113994139 RCV000586892
RCV000587895
Inherited Immunodeficiency Diseases Pathogenic; Likely pathogenic rs113994136, rs1064794957 RCV001027632
RCV001027630
See cases Pathogenic rs869312892 RCV005893842
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adenoid cystic carcinoma - rs1555564365 RCV004813297
Cervical cancer Likely benign; Benign rs114401618, rs17882035 RCV005915061
RCV005888808
Cholangiocarcinoma Benign rs8081431 RCV005905382
EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma Conflicting classifications of pathogenicity rs2081548277 RCV003320250
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 26969967
Abscess Associate 33717144
Acidosis Stimulate 35927628
Acquired Immunodeficiency Syndrome Associate 18024124
Acrocephalosyndactylia Associate 23726368
Acute Disease Associate 25663681, 36688918
Acute Kidney Injury Associate 33505213
Acute Lung Injury Associate 37864659
Adenocarcinoma Associate 18320073, 29890775, 29991802, 31085800, 31291201, 32869704
Adenocarcinoma Stimulate 36225196