ENSG00000115415


Homo sapiens

Features
Gene ID: ENSG00000115415
  
Biological name :STAT1
  
Synonyms : P42224 / signal transducer and activator of transcription 1 / STAT1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q32.2
Gene start: 190964358
Gene end: 191020960
  
Corresponding Affymetrix probe sets: 200887_s_at (Human Genome U133 Plus 2.0 Array)   209969_s_at (Human Genome U133 Plus 2.0 Array)   AFFX-HUMISGF3A/M97935_3_at (Human Genome U133 Plus 2.0 Array)   AFFX-HUMISGF3A/M97935_5_at (Human Genome U133 Plus 2.0 Array)   AFFX-HUMISGF3A/M97935_MA_at (Human Genome U133 Plus 2.0 Array)   AFFX-HUMISGF3A/M97935_MB_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000388772
Ensembl peptide - ENSP00000394512
Ensembl peptide - ENSP00000438703
Ensembl peptide - ENSP00000416019
Ensembl peptide - ENSP00000411398
Ensembl peptide - ENSP00000402548
Ensembl peptide - ENSP00000354394
Ensembl peptide - ENSP00000376136
Ensembl peptide - ENSP00000376137
Ensembl peptide - ENSP00000386244
Ensembl peptide - ENSP00000388240
NCBI entrez gene - 6772     See in Manteia.
OMIM - 600555
RefSeq - XM_017004783
RefSeq - NM_007315
RefSeq - NM_139266
RefSeq - XM_006712718
RefSeq Peptide - NP_644671
RefSeq Peptide - NP_009330
swissprot - J3KPM9
swissprot - P42224
swissprot - E9PH66
swissprot - E7EPD2
swissprot - E7ENM1
swissprot - H7BZ88
swissprot - D2KFR9
swissprot - H7BZB5
Ensembl - ENSG00000115415
  
Related genetic diseases (OMIM): 613796 - Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796
  614162 - Immunodeficiency 31C, autosomal dominant, 614162
  614892 - Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892

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
 stat1aENSDARG00000006266Danio rerio
 stat1bENSDARG00000076182Danio rerio
 STAT1ENSGALG00000007651Gallus gallus
 Stat1ENSMUSG00000026104Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
STAT4 / Q14765 / signal transducer and activator of transcription 4ENSG0000013837853
STAT3 / P40763 / signal transducer and activator of transcription 3ENSG0000016861053
STAT2 / P52630 / signal transducer and activator of transcription 2ENSG0000017058142
P42229 / STAT5A / signal transducer and activator of transcription 5AENSG0000012656129
P51692 / STAT5B / signal transducer and activator of transcription 5BENSG0000017375729
STAT6 / P42226 / signal transducer and activator of transcription 6ENSG0000016688824


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
 IPR022752  Signal transducer and activation of transcription 1, TAZ2 binding domain, C-terminal
 IPR035859  STAT1, SH2 domain
 IPR036535  STAT transcription factor, N-terminal domain superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0001937 negative regulation of endothelial cell proliferation IMP
 biological_processGO:0002053 positive regulation of mesenchymal cell proliferation ISS
 biological_processGO:0002230 positive regulation of defense response to virus by host IMP
 biological_processGO:0003340 negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007221 positive regulation of transcription of Notch receptor target TAS
 biological_processGO:0007259 JAK-STAT cascade IDA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008015 blood circulation ISS
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0009612 response to mechanical stimulus IEA
 biological_processGO:0010742 macrophage derived foam cell differentiation IDA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016525 negative regulation of angiogenesis IMP
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0032727 positive regulation of interferon-alpha production IDA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway IDA
 biological_processGO:0034097 response to cytokine ISS
 biological_processGO:0035456 response to interferon-beta IMP
 biological_processGO:0035458 cellular response to interferon-beta IMP
 biological_processGO:0038114 interleukin-21-mediated signaling pathway TAS
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042542 response to hydrogen peroxide IEA
 biological_processGO:0042981 regulation of apoptotic process TAS
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0043434 response to peptide hormone ISS
 biological_processGO:0045648 positive regulation of erythrocyte differentiation IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0046725 negative regulation by virus of viral protein levels in host cell IMP
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation ISS
 biological_processGO:0051591 response to cAMP ISS
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0051770 positive regulation of nitric-oxide synthase biosynthetic process IEA
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway IDA
 biological_processGO:0060334 regulation of interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0060337 type I interferon signaling pathway ISS
 biological_processGO:0060338 regulation of type I interferon-mediated signaling pathway TAS
 biological_processGO:0061326 renal tubule development IMP
 biological_processGO:0070102 interleukin-6-mediated signaling pathway TAS
 biological_processGO:0070106 interleukin-27-mediated signaling pathway TAS
 biological_processGO:0070757 interleukin-35-mediated signaling pathway TAS
 biological_processGO:0071345 cellular response to cytokine stimulus IEA
 biological_processGO:0071346 cellular response to interferon-gamma IDA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0072136 metanephric mesenchymal cell proliferation involved in metanephros development ISS
 biological_processGO:0072162 metanephric mesenchymal cell differentiation ISS
 biological_processGO:0072308 negative regulation of metanephric nephron tubule epithelial cell differentiation ISS
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000982 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001047 core promoter binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005164 tumor necrosis factor receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0031730 CCR5 chemokine receptor binding IEA
 molecular_functionGO:0035035 histone acetyltransferase binding IPI
 molecular_functionGO:0035257 nuclear hormone receptor binding IPI
 molecular_functionGO:0042393 histone binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044389 ubiquitin-like protein ligase binding IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0051721 protein phosphatase 2A binding IEA
 molecular_functionGO:0070491 repressing transcription factor binding IPI
 molecular_functionGO:1990841 promoter-specific chromatin binding IDA


Pathways (from Reactome)
Pathway description
Interleukin-6 signaling
ISG15 antiviral mechanism
Signaling by SCF-KIT
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
Interleukin-4 and Interleukin-13 signaling
Interleukin-20 family signaling
Regulation of RUNX2 expression and activity
Interleukin-35 Signalling
Interleukin-9 signaling
NOTCH3 Intracellular Domain Regulates Transcription
Interleukin-27 signaling
Interleukin-21 signaling
Growth hormone receptor signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 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:0000009 Functional abnormality of the bladder 
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 HP:0000819 Diabetes mellitus 
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 HP:0000821 Hypothyroidism 
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 HP:0000823 Delayed puberty 
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 HP:0000832 Primary hypothyroidism 
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001655 Patent foramen ovale 
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 HP:0001888 Lymphopenia 
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 HP:0001890 Autoimmune hemolytic anemia 
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 HP:0001904 Autoimmune neutropenia 
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 HP:0001920 Renal artery stenosis 
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 HP:0001973 Immune thrombocytopenia 
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 HP:0002014 Diarrhea 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002110 Bronchiectasis 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002383 Encephalitis 
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 HP:0002721 Immunodeficiency 
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 HP:0002724 Aspergillus infections 
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 HP:0002728 Chronic mucocutaneous candidiasis 
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002788 Recurrent upper respiratory tract infections 
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 HP:0002958 Immune dysregulation 
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 HP:0003613 Phospholipid antibody positive 
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 HP:0003812 Phenotypic variability 
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 HP:0003829 Incomplete penetrance 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004387 Enterocolitis 
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 HP:0004944 Cerebral aneurysm "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators]
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 HP:0004966 Medial calcification of medium-sized and major arteries 
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 HP:0005353 Susceptibility to herpesvirus 
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 HP:0010976 Reduction in B cell number "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson]
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 HP:0011274 Recurrent mycobacterial infections "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson]
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 HP:0011459 Esophageal carcinoma "The presence of a `carcinoma` (MPATH:549) of the `esophagus` (FMA:7131)." [DDD:hfirth]
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 HP:0011473 Villous atrophy "The enteric villi are atrophic or absent." [HPO:probinson]
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 HP:0012115 Hepatitis "Inflammation of the liver." [HPO:probinson]
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 HP:0012163 Carotid artery aneurysm "A aneurysm (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson]
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 HP:0012182 Oropharyngeal squamous cell carcinoma "A squamous cell carcinoma that originates in the oropharnyx." [HPO:probinson]
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 HP:0012302 Herpes simplex encephalitis "A severe virus infection of the central nervous system by the herpes simplex virus (HSV)." [HPO:probinson]
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 HP:0030355 Abnormal serum interferon-gamma level 
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 HP:0040160 Generalized osteoporosis 
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 HP:0100646 Thyroiditis "`Inflammation` (MPATH:212) of the `thyroid gland` (FMA:9603)." [HPO:probinson]
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 HP:0100651 Diabetes mellitus Type I 
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 HP:0100817 Renovascular hypertension "The presence of `hypertension` (HP:0000822) related to stenosis of the `renal artery` (FMA:14751)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000077238 IL4R / P24394 / interleukin 4 receptor  / complex / reaction
 ENSG00000049130 KITLG / P21583 / KIT ligand  / complex / reaction
 ENSG00000111537 IFNG / P01579 / interferon gamma  / complex / reaction
 ENSG00000105246 EBI3 / Q14213 / Epstein-Barr virus induced 3  / complex
 ENSG00000033800 PIAS1 / O75925 / protein inhibitor of activated STAT 1  / reaction / complex
 ENSG00000124334 IL9R / Q01113 / interleukin 9 receptor  / complex / reaction
 ENSG00000105397 TYK2 / P29597 / tyrosine kinase 2  / complex / reaction
 ENSG00000074181 NOTCH3 / Q9UM47  / complex / reaction
 ENSG00000081985 Q99665 / IL12RB2 / interleukin 12 receptor subunit beta 2  / complex
 ENSG00000168610 STAT3 / P40763 / signal transducer and activator of transcription 3  / complex / reaction
 ENSG00000136244 IL6 / P05231 / interleukin 6  / complex / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / reaction
 ENSG00000145839 IL9 / P15248 / interleukin 9  / complex / reaction
 ENSG00000147168 IL2RG / P31785 / interleukin 2 receptor subunit gamma  / complex / reaction
 ENSG00000169194 IL13 / P35225 / interleukin 13  / reaction / complex
 ENSG00000170581 STAT2 / P52630 / signal transducer and activator of transcription 2  / complex / reaction
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / reaction
 ENSG00000142166 IFNAR1 / P17181 / interferon alpha and beta receptor subunit 1  / complex / reaction
 ENSG00000161021 MAML1 / Q92585 / mastermind like transcriptional coactivator 1  / reaction / complex
 ENSG00000159128 IFNGR2 / P38484 / interferon gamma receptor 2  / complex / reaction
 ENSG00000175354 PTPN2 / P17706 / protein tyrosine phosphatase, non-receptor type 2  / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / reaction
 ENSG00000157404 KIT / P10721 / KIT proto-oncogene receptor tyrosine kinase  / reaction / complex
 ENSG00000168811 IL12A / P29459 / interleukin 12A  / complex
 ENSG00000163932 PRKCD / Q05655 / protein kinase C delta  / reaction
 ENSG00000168214 RBPJ / Q06330 / recombination signal binding protein for immunoglobulin kappa J region  / complex / reaction
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / reaction / complex
 ENSG00000160712 IL6R / P08887 / interleukin 6 receptor  / complex / reaction
 ENSG00000134352 IL6ST / P40189 / interleukin 6 signal transducer  / complex / reaction
 ENSG00000213928 IRF9 / Q00978 / interferon regulatory factor 9  / reaction / complex
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction
 ENSG00000243646 IL10RB / Q08334 / interleukin 10 receptor subunit beta  / complex
 ENSG00000138378 STAT4 / Q14765 / signal transducer and activator of transcription 4  / complex
 ENSG00000112964 GHR / P10912 / growth hormone receptor  / reaction / complex
 ENSG00000111536 IL26 / Q9NPH9 / interleukin 26  / complex
 ENSG00000124813 RUNX2 / Q13950 / runt related transcription factor 2  / reaction / complex
 ENSG00000138684 IL21 / Q9HBE4 / interleukin 21  / complex
 ENSG00000171855 IFNB1 / P01574 / interferon beta 1  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / reaction / complex
 ENSG00000197272 IL27 / Q8NEV9 / interleukin 27  / complex
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / reaction / complex
 ENSG00000259384 GH1 / P01241 / growth hormone 1  / reaction / complex
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000131724 P78552 / IL13RA1 / interleukin 13 receptor subunit alpha 1  / complex / reaction
 ENSG00000105639 JAK3 / P52333 / Janus kinase 3  / reaction / complex
 ENSG00000159110 IFNAR2 / P48551 / interferon alpha and beta receptor subunit 2  / complex / reaction
 ENSG00000103522 IL21R / Q9HBE5 / interleukin 21 receptor  / complex
 ENSG00000027697 IFNGR1 / P15260 / interferon gamma receptor 1  / complex / reaction
 ENSG00000104998 IL27RA / Q6UWB1 / interleukin 27 receptor subunit alpha  / complex
 ENSG00000136487 GH2 / P01242 / growth hormone 2  / complex / reaction
 ENSG00000162892 IL24 / Q13007 / interleukin 24  / complex
 ENSG00000174564 IL20RB / Q6UXL0 / interleukin 20 receptor subunit beta  / complex
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / reaction / complex
 ENSG00000016402 IL20RA / Q9UHF4 / interleukin 20 receptor subunit alpha  / complex
 ENSG00000213066 O95684 / FGFR1OP / FGFR1 oncogene partner  / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000196782 MAML3 / Q96JK9 / mastermind like transcriptional coactivator 3  / complex / reaction
 ENSG00000184384 MAML2 / Q8IZL2 / mastermind like transcriptional coactivator 2  / reaction / complex






 

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