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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
102
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
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
View all (55 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyper-IgE syndrome Likely pathogenic; Pathogenic rs886039434, rs113994139 RCV000586892
RCV000587895
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases Pathogenic; Likely pathogenic rs113994136, rs1064794957 RCV001027632
RCV001027630
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STAT3 gain of function Pathogenic; Likely pathogenic rs2081903545, rs2144683205, rs2144773624, rs1567708034, rs2144832509, rs2144778323, rs2144622987, rs2144683531, rs2144827923, rs2509118228, rs113994139, rs2144683812, rs2144691170, rs2144691319, rs2144682791
View all (25 more)
RCV001343329
RCV001378695
RCV001378195
RCV001380075
RCV001995210
View all (40 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
Adenoid cystic carcinoma - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
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
Actinic keratosis Actinic keratosis BEFREE 27457246
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 25572535
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 11843291, 16598306, 19482615, 20667821, 22581828, 27086927
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia LHGDN 11843291
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 25281507, 9498707
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28861713
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 28499590
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 29296780, 31406210
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 19796711
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 19796711
★☆☆☆☆
Found in Text Mining only