Gene Gene information from NCBI Gene database.
Entrez ID 6773
Gene name Signal transducer and activator of transcription 2
Gene symbol STAT2
Synonyms (NCBI Gene)
IMD44ISGF-3P113PTORCH3STAT113
Chromosome 12
Chromosome location 12q13.3
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.
4
SNP ID Visualize variation Clinical significance Consequence
rs281874770 C>G Pathogenic Intron variant, upstream transcript variant, genic upstream transcript variant
rs781522558 G>C,T Pathogenic Downstream transcript variant, non coding transcript variant, missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1565648608 G>A Pathogenic Non coding transcript variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant
rs1592475699 C>- Likely-pathogenic Non coding transcript variant, splice donor variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
796
miRTarBase ID miRNA Experiments Reference
MIRT017906 hsa-miR-335-5p Microarray 18185580
MIRT045759 hsa-miR-125a-5p CLASH 23622248
MIRT681524 hsa-miR-1295b-5p HITS-CLIP 23706177
MIRT681523 hsa-miR-1912 HITS-CLIP 23706177
MIRT681522 hsa-miR-3130-5p HITS-CLIP 23706177
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
BRCA1 Activation 17374731
STAT1 Activation 16918696
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IC 31127039
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 9020188
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600556 11363 ENSG00000170581
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52630
Protein name Signal transducer and activator of transcription 2 (p113)
Protein function Signal transducer and activator of transcription that mediates signaling by type I interferons (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosp
PDB 2KA4 , 6UX2 , 6WCZ , 8T12 , 8T13
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02865 STAT_int 2 123 STAT protein, protein interaction domain Domain
PF01017 STAT_alpha 142 308 STAT protein, all-alpha domain Family
PF02864 STAT_bind 320 456 STAT protein, DNA binding domain Domain
PF00017 SH2 576 648 SH2 domain Domain
PF12188 STAT2_C 783 838 Signal transducer and activator of transcription 2 C terminal Domain
Sequence
MAQWEMLQNLDSPFQDQLHQLYSHSLLPVDIRQYLAVWIEDQNWQEAALGSDDSKATMLF
FHFLDQLNYECGRCSQDPESLLLQHNLRKFCRDIQPFSQDPTQLAEMIFNLLLEEKRILI
QAQ
RAQLEQGEPVLETPVESQQHEIESRILDLRAMMEKLVKSISQLKDQQDVFCFRYKIQ
AKGKTPSLDPHQTKEQKILQETLNELDKRRKEVLDASKALLGRLTTLIELLLPKLEEWKA
QQQKACIRAPIDHGLEQLETWFTAGAKLLFHLRQLLKELKGLSCLVSYQDDPLTKGVDLR
NAQVTELL
QRLLHRAFVVETQPCMPQTPHRPLILKTGSKFTVRTRLLVRLQEGNESLTVE
VSIDRNPPQLQGFRKFNILTSNQKTLTPEKGQSQGLIWDFGYLTLVEQRSGGSGKGSNKG
PLGVTEELHIISFTVKYTYQGLKQELKTDTLPVVII
SNMNQLSIAWASVLWFNLLSPNLQ
NQQFFSNPPKAPWSLLGPALSWQFSSYVGRGLNSDQLSMLRNKLFGQNCRTEDPLLSWAD
FTKRESPPGKLPFWTWLDKILELVHDHLKDLWNDGRIMGFVSRSQERRLLKKTMSGTFLL
RFSESSEGGITCSWVEHQDDDKVLIYSVQPYTKEVLQSLPLTEIIRHY
QLLTEENIPENP
LRFLYPRIPRDEAFGCYYQEKVNLQERRKYLKHRLIVVSNRQVDELQQPLELKPEPELES
LELELGLVPEPELSLDLEPLLKAGLDLGPELESVLESTLEPVIEPTLCMVSQTVPEPDQG
PVSQPVPEPDLPCDLRHLNTEPMEIFRNCVKIEEIMPNGDPLLAGQNTVDEVYVSRPSHF
YTDGPLMPSDF
Sequence length 851
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Chemokine signaling pathway
Necroptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Hepatitis C
Hepatitis B
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
  Interleukin-20 family signaling
Interferon alpha/beta signaling
Regulation of IFNA signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Pathogenic; Likely pathogenic rs1878457865, rs2136083409, rs2136052256, rs763294380, rs1258502384, rs2136053029, rs2136044173, rs1216776022, rs1391401672, rs2136052278, rs571666221, rs753806117, rs1028079499, rs281874770, rs781522558
View all (11 more)
RCV001330058
RCV001864935
RCV002037674
RCV001949245
RCV001993355
View all (21 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudo-TORCH syndrome 3 Pathogenic rs1458224681 RCV001249565
★★★★☆
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
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 44 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
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
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 9028332
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31497205
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 36524113 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 19159017
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 19159017
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 36720950 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 36226239 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15342376, 28422733, 29326301
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28422733, 29326301, 32391191, 32883354, 36222718 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37115061 Associate
★☆☆☆☆
Found in Text Mining only