ENSG00000134242


Homo sapiens

Features
Gene ID: ENSG00000134242
  
Biological name :PTPN22
  
Synonyms : protein tyrosine phosphatase, non-receptor type 22 / PTPN22 / Q9Y2R2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p13.2
Gene start: 113813811
Gene end: 113871759
  
Corresponding Affymetrix probe sets: 206060_s_at (Human Genome U133 Plus 2.0 Array)   208010_s_at (Human Genome U133 Plus 2.0 Array)   208011_at (Human Genome U133 Plus 2.0 Array)   236539_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000388229
Ensembl peptide - ENSP00000352833
Ensembl peptide - ENSP00000431249
Ensembl peptide - ENSP00000439372
Ensembl peptide - ENSP00000435176
Ensembl peptide - ENSP00000434932
Ensembl peptide - ENSP00000433141
Ensembl peptide - ENSP00000432674
NCBI entrez gene - 26191     See in Manteia.
OMIM - 600716
RefSeq - XM_017001005
RefSeq - NM_001193431
RefSeq - NM_001308297
RefSeq - NM_012411
RefSeq - NM_015967
RefSeq - XM_011541221
RefSeq - XM_011541222
RefSeq - XM_011541223
RefSeq - XM_011541225
RefSeq - XM_017001004
RefSeq Peptide - NP_001295226
RefSeq Peptide - NP_036543
RefSeq Peptide - NP_057051
RefSeq Peptide - NP_001180360
swissprot - A0A0B4J1S7
swissprot - A0A0A0MTE6
swissprot - F5H2S8
swissprot - A0A0A0MTD9
swissprot - Q9Y2R2
swissprot - E9PMT0
swissprot - E9PMK2
swissprot - E9PM87
Ensembl - ENSG00000134242
  
Related genetic diseases (OMIM): 152700 - {Systemic lupus erythematosus susceptibility to}, 152700
  180300 - {Rheumatoid arthritis, susceptibility to}, 180300
  222100 - {Diabetes, type 1, susceptibility to}, 222100
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
 ptpn22ENSDARG00000104197Danio rerio
 PTPN22ENSGALG00000021656Gallus gallus
 P29352ENSMUSG00000027843Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PTPN12 / Q05209 / protein tyrosine phosphatase, non-receptor type 12ENSG0000012794736
PTPN18 / Q99952 / protein tyrosine phosphatase, non-receptor type 18ENSG0000007213521
PTPRJ / Q12913 / protein tyrosine phosphatase, receptor type JENSG0000014917714
PTPN2 / P17706 / protein tyrosine phosphatase, non-receptor type 2ENSG0000017535413
PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1ENSG0000019639613
PTPRH / Q9HD43 / protein tyrosine phosphatase, receptor type HENSG0000008003113
PTPRO / Q16827 / protein tyrosine phosphatase, receptor type OENSG0000015149013
PTPRQ / protein tyrosine phosphatase, receptor type QENSG0000013930412
PTPN20 / Q4JDL3 / protein tyrosine phosphatase, non-receptor type 20ENSG0000020417912
PTPRB / P23467 / protein tyrosine phosphatase, receptor type BENSG0000012732912
PTPN9 / P43378 / protein tyrosine phosphatase, non-receptor type 9ENSG0000016941012


Protein motifs (from Interpro)
Interpro ID Name
 IPR000242  PTP type protein phosphatase
 IPR000387  Tyrosine specific protein phosphatases domain
 IPR003595  Protein-tyrosine phosphatase, catalytic
 IPR016130  Protein-tyrosine phosphatase, active site
 IPR016276  Non-receptor tyrosine-protein phosphatase 22
 IPR029021  Protein-tyrosine phosphatase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002230 positive regulation of defense response to virus by host IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002685 regulation of leukocyte migration IEA
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0010507 negative regulation of autophagy IMP
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0030217 T cell differentiation IEA
 biological_processGO:0031663 lipopolysaccharide-mediated signaling pathway IMP
 biological_processGO:0032481 positive regulation of type I interferon production IMP
 biological_processGO:0032496 response to lipopolysaccharide IMP
 biological_processGO:0032720 negative regulation of tumor necrosis factor production IEA
 biological_processGO:0032817 regulation of natural killer cell proliferation IDA
 biological_processGO:0034141 positive regulation of toll-like receptor 3 signaling pathway IEA
 biological_processGO:0034145 positive regulation of toll-like receptor 4 signaling pathway IEA
 biological_processGO:0034157 positive regulation of toll-like receptor 7 signaling pathway IEA
 biological_processGO:0034165 positive regulation of toll-like receptor 9 signaling pathway IEA
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0035549 positive regulation of interferon-beta secretion IEA
 biological_processGO:0035644 phosphoanandamide dephosphorylation IEA
 biological_processGO:0042993 obsolete positive regulation of transcription factor import into nucleus IEA
 biological_processGO:0043508 negative regulation of JUN kinase activity IMP
 biological_processGO:0045088 regulation of innate immune response IC
 biological_processGO:0050730 regulation of peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0050852 T cell receptor signaling pathway IEA
 biological_processGO:0050855 regulation of B cell receptor signaling pathway NAS
 biological_processGO:0050856 regulation of T cell receptor signaling pathway IEA
 biological_processGO:0050860 negative regulation of T cell receptor signaling pathway IDA
 biological_processGO:0050868 negative regulation of T cell activation IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:0070433 negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway IEA
 biological_processGO:0071225 cellular response to muramyl dipeptide IEA
 biological_processGO:0071663 positive regulation of granzyme B production IEA
 biological_processGO:1900165 negative regulation of interleukin-6 secretion IEA
 biological_processGO:1901222 regulation of NIK/NF-kappaB signaling IEA
 biological_processGO:1902523 positive regulation of protein K63-linked ubiquitination IEA
 biological_processGO:1902715 positive regulation of interferon-gamma secretion IMP
 biological_processGO:1902741 positive regulation of interferon-alpha secretion IEA
 biological_processGO:1903169 regulation of calcium ion transmembrane transport IEA
 biological_processGO:1903753 negative regulation of p38MAPK cascade IEA
 biological_processGO:2000483 negative regulation of interleukin-8 secretion IEA
 biological_processGO:2000566 positive regulation of CD8-positive, alpha-beta T cell proliferation IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IEA
 molecular_functionGO:0004725 protein tyrosine phosphatase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016791 phosphatase activity IEA
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0019900 kinase binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:1990782 protein tyrosine kinase binding IEA


Pathways (from Reactome)
Pathway description
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000024 Prostatitis 
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 HP:0000071 Ureteral stenosis 
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 HP:0000083 Renal failure 
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 HP:0000093 Proteinuria 
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 HP:0000126 Hydronephrosis 
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 HP:0000163 Abnormality of the oral cavity "Abnormality of the opening or hollow part of the mouth." [HPO:curators]
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 HP:0000206 Glossitis "Inflammation of the tongue." [HPO:sdoelken]
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 HP:0000246 Sinusitis 
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 HP:0000389 Chronic otitis media 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0000488 Retinopathy 
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 HP:0000499 Abnormality of the eyelashes "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson]
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 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]
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 HP:0000520 Proptosis 
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 HP:0000534 Abnormality of the eyebrow "An abnormality of the `eyebrow` (FMA:54237)." [HPO:probinson]
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 HP:0000541 Detached retina 
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 HP:0000572 Visual loss 
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 HP:0000597 Ophthalmoparesis "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0000651 Diplopia "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators]
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 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]
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000763 Sensory neuropathy "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators]
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000864 Abnormality of the hypothalamus-pituitary axis 
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 HP:0000873 Diabetes insipidus "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0000979 Purpura 
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 HP:0000988 Skin rash 
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 HP:0001045 Vitiligo 
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 HP:0001053 Hypopigmented skin patches 
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 HP:0001094 Iridocyclitis 
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 HP:0001123 Visual field defects 
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 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]
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 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]
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 HP:0001287 Meningitis 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001369 Arthritis 
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 HP:0001373 Joint dislocation "Displacement or malalignment of joints." [HPO:curators]
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 HP:0001376 Decreased mobility of joints 
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 HP:0001386 Joint swelling 
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 HP:0001387 Joint stiffness "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators]
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 HP:0001399 Hepatic failure 
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0001645 Sudden cardiac death 
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 HP:0001681 Angina pectoris 
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 HP:0001701 Pericarditis 
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 HP:0001733 Pancreatitis 
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 HP:0001824 Weight loss 
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 HP:0001872 Abnormality of thrombocytes 
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 HP:0001945 Fever 
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 HP:0002017 Nausea and vomiting 
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 HP:0002027 Abdominal pain 
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 HP:0002039 Anorexia 
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 HP:0002091 Restrictive lung disease 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002102 Pleuritis "Inflammation of the pleura." [HPO:sdoelken]
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 HP:0002103 Abnormality of the pleura "An abnormality of the pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [HPO:curators]
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 HP:0002105 Hemoptysis "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators]
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 HP:0002113 Pulmonary infiltrates 
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 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]
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002209 Sparse scalp hair "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson]
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 HP:0002216 Premature graying of hair 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002290 Poliosis "Circumscribed depigmentation of the hair of the head or the eyelashes." [HPO:curators]
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 HP:0002301 Hemiplegia "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
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 HP:0002633 Vasculitis 
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 HP:0002637 Cerebral ischemia 
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 HP:0002647 Aortic dissection "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators]
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 HP:0002829 Arthralgia 
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 HP:0002955 Tissue biopsy shows granulomas 
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 HP:0002960 Autoimmune disease 
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0003493 Antinuclear antibody positive 
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 HP:0003565 Elevated erythrocyte sedimentation rate 
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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:0004420 Arterial thrombosis 
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 HP:0004936 Venous thrombosis 
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 HP:0005112 Dilatation of the abdominal aorta 
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 HP:0005214 Intestinal obstruction 
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 HP:0005216 Chewing difficulties 
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 HP:0005244 Gastrointestinal infarctions 
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 HP:0005681 Rheumatoid arthritis, juvenile 
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 HP:0005764 Polyarticular arthritis 
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 HP:0006510 Chronic obstructive pulmonary disease 
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 HP:0006535 Recurrent intrapulmonary hemorrhage 
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 HP:0006824 Cranial nerve paralysis 
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 HP:0011227 Elevated C-reactive protein level "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson]
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 HP:0011658 Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0100533 Inflammatory abnormality of the eye "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken]
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 HP:0100539 Periorbital edema 
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0100576 Amaurosis fugax "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
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 HP:0100721 Mediastinal lymphadenopathy 
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 HP:0100749 Chest pain 
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 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
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 HP:0100776 Recurrent pharyngitis "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson]
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 HP:0100820 Glomerulopathy "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken]
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 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]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / reaction
 ENSG00000010610 CD4 / P01730 / CD4 molecule  / reaction
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / reaction
 ENSG00000198851 CD3E / P07766 / CD3e molecule  / reaction
 ENSG00000167286 CD3D / P04234 / CD3d molecule  / reaction
 ENSG00000103653 CSK / P41240 / C-terminal Src kinase  / complex
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / reaction
 ENSG00000115085 ZAP70 / P43403 / zeta chain of T cell receptor associated protein kinase 70  / reaction
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / reaction
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / reaction
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / reaction
 ENSG00000211799 TRAV19 / T cell receptor alpha variable 19  / reaction
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / reaction






 

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