ENSG00000138378


Homo sapiens

Features
Gene ID: ENSG00000138378
  
Biological name :STAT4
  
Synonyms : Q14765 / signal transducer and activator of transcription 4 / STAT4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q32.3
Gene start: 191029576
Gene end: 191151596
  
Corresponding Affymetrix probe sets: 206118_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000376134
Ensembl peptide - ENSP00000386288
Ensembl peptide - ENSP00000495153
Ensembl peptide - ENSP00000414322
Ensembl peptide - ENSP00000412397
Ensembl peptide - ENSP00000403238
Ensembl peptide - ENSP00000351255
NCBI entrez gene - 6775     See in Manteia.
OMIM - 600558
RefSeq - NM_003151
RefSeq - XM_017004784
RefSeq - XM_011511705
RefSeq - XM_006712719
RefSeq - NM_001243835
RefSeq Peptide - NP_001230764
RefSeq Peptide - NP_003142
swissprot - E9PBE2
swissprot - Q14765
swissprot - C9JFG0
swissprot - C9JM11
swissprot - E9PG69
Ensembl - ENSG00000138378
  
Related genetic diseases (OMIM): 612253 - {Systemic lupus erythematosus, susceptibility to, 11}, 612253

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
 stat4ENSDARG00000028731Danio rerio
 STAT4ENSGALG00000033087Gallus gallus
 Stat4ENSMUSG00000062939Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
STAT1 / P42224 / signal transducer and activator of transcription 1ENSG0000011541553
STAT3 / P40763 / signal transducer and activator of transcription 3ENSG0000016861048
STAT2 / P52630 / signal transducer and activator of transcription 2ENSG0000017058140
P42229 / STAT5A / signal transducer and activator of transcription 5AENSG0000012656130
P51692 / STAT5B / signal transducer and activator of transcription 5BENSG0000017375730
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
 IPR015155  PLAA family ubiquitin binding domain
 IPR015988  STAT transcription factor, coiled coil
 IPR029839  Signal transducer and activator of transcription 4
 IPR035856  STAT4, SH2 domain
 IPR036535  STAT transcription factor, N-terminal domain superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007259 JAK-STAT cascade TAS
 biological_processGO:0019221 cytokine-mediated signaling pathway IEA
 biological_processGO:0035722 interleukin-12-mediated signaling pathway TAS
 biological_processGO:0038114 interleukin-21-mediated signaling pathway TAS
 biological_processGO:0038155 interleukin-23-mediated signaling pathway TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0070757 interleukin-35-mediated signaling pathway TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 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


Pathways (from Reactome)
Pathway description
Interleukin-20 family signaling
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimers disease models
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Interleukin-35 Signalling
Interleukin-12 signaling
Interleukin-23 signaling
Interleukin-21 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
Show

 HP:0000155 Oral ulcers 
Show

 HP:0000488 Retinopathy 
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
Show

 HP:0000618 Blindness 
Show

 HP:0000689 Dental malocclusion "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators]
Show

 HP:0000737 Irritability 
Show

 HP:0001061 Acne 
Show

 HP:0001094 Iridocyclitis 
Show

 HP:0001097 Keratoconjunctivitis sicca "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:curators]
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
Show

 HP:0001269 Hemiparesis "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
Show

 HP:0001287 Meningitis 
Show

 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
Show

 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
Show

 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
Show

 HP:0001369 Arthritis 
Show

 HP:0001373 Joint dislocation "Displacement or malalignment of joints." [HPO:curators]
Show

 HP:0001376 Decreased mobility of joints 
Show

 HP:0001386 Joint swelling 
Show

 HP:0001482 Subcutaneous nodules 
Show

 HP:0001637 Abnormality of the myocardium 
Show

 HP:0001653 Mitral regurgitation "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
Show

 HP:0001658 Myocardial infarction 
Show

 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
Show

 HP:0001701 Pericarditis 
Show

 HP:0001733 Pancreatitis 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001824 Weight loss 
Show

 HP:0001945 Fever 
Show

 HP:0002017 Nausea and vomiting 
Show

 HP:0002024 Malabsorption 
Show

 HP:0002027 Abdominal pain 
Show

 HP:0002039 Anorexia 
Show

 HP:0002076 Migraine 
Show

 HP:0002102 Pleuritis "Inflammation of the pleura." [HPO:sdoelken]
Show

 HP:0002105 Hemoptysis "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators]
Show

 HP:0002113 Pulmonary infiltrates 
Show

 HP:0002186 Apraxia "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators]
Show

 HP:0002202 Pleural effusion "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators]
Show

 HP:0002204 Pulmonary embolism 
Show

 HP:0002239 Gastrointestinal hemorrhage 
Show

 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
Show

 HP:0002354 Memory impairment 
Show

 HP:0002376 Developmental regression 
Show

 HP:0002383 Encephalitis 
Show

 HP:0002516 Increased intracranial pressure 
Show

 HP:0002633 Vasculitis 
Show

 HP:0002637 Cerebral ischemia 
Show

 HP:0002716 Lymphadenopathy 
Show

 HP:0002829 Arthralgia 
Show

 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
Show

 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
Show

 HP:0003493 Antinuclear antibody positive 
Show

 HP:0003565 Elevated erythrocyte sedimentation rate 
Show

 HP:0004420 Arterial thrombosis 
Show

 HP:0004936 Venous thrombosis 
Show

 HP:0005681 Rheumatoid arthritis, juvenile 
Show

 HP:0005764 Polyarticular arthritis 
Show

 HP:0006824 Cranial nerve paralysis 
Show

 HP:0007256 Mild pyramidal signs 
Show

 HP:0008066 Abnormal blistering of the skin 
Show

 HP:0010885 Aseptic necrosis "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken]
Show

 HP:0011107 Recurrent aphthous stomatitis "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson]
Show

 HP:0011227 Elevated C-reactive protein level "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson]
Show

 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
Show

 HP:0100326 Immunologic hypersensitivity 
Show

 HP:0100584 Endocarditis "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken]
Show

 HP:0100614 Myositis "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken]
Show

 HP:0100654 Retrobulbar optic neuritis "`Optic neuritis`(HP:0100653) that occurs in the section of the optic nerve located behind the eyebal." [HPO:sdoelken]
Show

 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
Show

 HP:0100796 Orchitis "Testicular inflammation." [HPO:sdoelken]
Show

 HP:0100820 Glomerulopathy "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken]
Show

 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex
 ENSG00000110944 IL23A / Q9NPF7 / interleukin 23 subunit alpha  / complex
 ENSG00000168610 STAT3 / P40763 / signal transducer and activator of transcription 3  / complex / reaction
 ENSG00000138684 IL21 / Q9HBE4 / interleukin 21  / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000105639 JAK3 / P52333 / Janus kinase 3  / complex
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / reaction / complex
 ENSG00000096996 P42701 / IL12RB1 / interleukin 12 receptor subunit beta 1  / reaction / complex
 ENSG00000105397 TYK2 / P29597 / tyrosine kinase 2  / complex / reaction
 ENSG00000147168 IL2RG / P31785 / interleukin 2 receptor subunit gamma  / complex
 ENSG00000113302 IL12B / P29460 / interleukin 12B  / complex / reaction
 ENSG00000105246 EBI3 / Q14213 / Epstein-Barr virus induced 3  / complex
 ENSG00000168811 IL12A / P29459 / interleukin 12A  / reaction / complex
 ENSG00000081985 Q99665 / IL12RB2 / interleukin 12 receptor subunit beta 2  / complex / reaction
 ENSG00000138378 STAT4 / Q14765 / signal transducer and activator of transcription 4  / reaction / complex
 ENSG00000162594 IL23R / Q5VWK5 / interleukin 23 receptor  / complex
 ENSG00000134352 IL6ST / P40189 / interleukin 6 signal transducer  / complex
 ENSG00000103522 IL21R / Q9HBE5 / interleukin 21 receptor  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr