ENSG00000170581


Homo sapiens

Features
Gene ID: ENSG00000170581
  
Biological name :STAT2
  
Synonyms : P52630 / signal transducer and activator of transcription 2 / STAT2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.3
Gene start: 56341597
Gene end: 56360155
  
Corresponding Affymetrix probe sets: 205170_at (Human Genome U133 Plus 2.0 Array)   217199_s_at (Human Genome U133 Plus 2.0 Array)   225636_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000450985
Ensembl peptide - ENSP00000315768
Ensembl peptide - ENSP00000387354
Ensembl peptide - ENSP00000450751
NCBI entrez gene - 6773     See in Manteia.
OMIM - 600556
RefSeq - XM_017019904
RefSeq - NM_198332
RefSeq - XM_005269111
RefSeq - XM_011538697
RefSeq - XM_011538698
RefSeq - XM_011538699
RefSeq - XM_011538700
RefSeq - NM_005419
RefSeq Peptide - NP_005410
RefSeq Peptide - NP_938146
swissprot - G3V319
swissprot - R9QE65
swissprot - B4DLC8
swissprot - P52630
Ensembl - ENSG00000170581
  
Related genetic diseases (OMIM): 616636 - Immunodeficiency 44, 616636

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 stat2ENSDARG00000031647Danio rerio
 STAT2ENSGALG00000030661Gallus gallus
 Stat2ENSMUSG00000040033Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
STAT1 / P42224 / signal transducer and activator of transcription 1ENSG0000011541537
STAT4 / Q14765 / signal transducer and activator of transcription 4ENSG0000013837835
STAT3 / P40763 / signal transducer and activator of transcription 3ENSG0000016861035
P51692 / STAT5B / signal transducer and activator of transcription 5BENSG0000017375724
P42229 / STAT5A / signal transducer and activator of transcription 5AENSG0000012656123
STAT6 / P42226 / signal transducer and activator of transcription 6ENSG0000016688821


Protein motifs (from Interpro)
Interpro ID Name
 IPR000980  SH2 domain
 IPR001217  Transcription factor STAT
 IPR008967  p53-like transcription factor, DNA-binding
 IPR012345  STAT transcription factor, DNA-binding, N-terminal
 IPR013799  STAT transcription factor, protein interaction
 IPR013800  STAT transcription factor, all-alpha domain
 IPR013801  STAT transcription factor, DNA-binding
 IPR015988  STAT transcription factor, coiled coil
 IPR022756  Signal transducer and activation of transcription 2, C-terminal
 IPR035854  STAT2, SH2 domain
 IPR036535  STAT transcription factor, N-terminal domain superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001932 regulation of protein phosphorylation IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007259 JAK-STAT cascade TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0051607 defense response to virus IMP
 biological_processGO:0060337 type I interferon signaling pathway IMP
 biological_processGO:0060338 regulation of type I interferon-mediated signaling pathway TAS
 biological_processGO:0090140 regulation of mitochondrial fission IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0044389 ubiquitin-like protein ligase binding IPI


Pathways (from Reactome)
Pathway description
Interleukin-20 family signaling
Interferon alpha/beta signaling
Regulation of IFNA signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001298 Encephalopathy 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105397 TYK2 / P29597 / tyrosine kinase 2  / complex / reaction
 ENSG00000170581 STAT2 / P52630 / signal transducer and activator of transcription 2  / complex / reaction
 ENSG00000142166 IFNAR1 / P17181 / interferon alpha and beta receptor subunit 1  / complex / reaction
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / complex / reaction
 ENSG00000213928 IRF9 / Q00978 / interferon regulatory factor 9  / complex / reaction
 ENSG00000159110 IFNAR2 / P48551 / interferon alpha and beta receptor subunit 2  / complex / reaction
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex / reaction
 ENSG00000171855 IFNB1 / P01574 / interferon beta 1  / complex / reaction
 ENSG00000184557 SOCS3 / O14543 / suppressor of cytokine signaling 3  / complex / reaction
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / reaction
 ENSG00000185338 SOCS1 / O15524 / suppressor of cytokine signaling 1  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction
 ENSG00000196396 PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1  / reaction






 

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