ENSG00000168811


Homo sapiens

Features
Gene ID: ENSG00000168811
  
Biological name :IL12A
  
Synonyms : IL12A / interleukin 12A / P29459
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q25.33
Gene start: 159988750
Gene end: 159996019
  
Corresponding Affymetrix probe sets: 207160_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000303231
Ensembl peptide - ENSP00000420184
Ensembl peptide - ENSP00000419046
NCBI entrez gene - 3592     See in Manteia.
OMIM - 161560
RefSeq - NM_000882
RefSeq - NM_001354582
RefSeq Peptide - NP_000873
RefSeq Peptide - NP_001341511
swissprot - P29459
swissprot - E7ENE1
swissprot - O60595
swissprot - E9PGR3
Ensembl - ENSG00000168811
  
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
 IL12AENSGALG00000009574Gallus gallus
 Il12aENSMUSG00000027776Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004281  Interleukin-12 alpha
 IPR009079  Four-helical cytokine-like, core


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001916 positive regulation of T cell mediated cytotoxicity IDA
 biological_processGO:0002860 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IDA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0007050 cell cycle arrest IDA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0009615 response to virus IEP
 biological_processGO:0010224 response to UV-B IDA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0016477 cell migration IDA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0032496 response to lipopolysaccharide IDA
 biological_processGO:0032609 interferon-gamma production IEA
 biological_processGO:0032700 negative regulation of interleukin-17 production IDA
 biological_processGO:0032729 positive regulation of interferon-gamma production IEA
 biological_processGO:0032816 positive regulation of natural killer cell activation IDA
 biological_processGO:0032946 positive regulation of mononuclear cell proliferation IMP
 biological_processGO:0034393 positive regulation of smooth muscle cell apoptotic process IDA
 biological_processGO:0035722 interleukin-12-mediated signaling pathway TAS
 biological_processGO:0035744 T-helper 1 cell cytokine production IEA
 biological_processGO:0042102 positive regulation of T cell proliferation IEA
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IDA
 biological_processGO:0042832 defense response to protozoan IEA
 biological_processGO:0045582 positive regulation of T cell differentiation IEA
 biological_processGO:0045785 positive regulation of cell adhesion IDA
 biological_processGO:0045954 positive regulation of natural killer cell mediated cytotoxicity IDA
 biological_processGO:0048662 negative regulation of smooth muscle cell proliferation IDA
 biological_processGO:0050671 positive regulation of lymphocyte proliferation IDA
 biological_processGO:0050830 defense response to Gram-positive bacterium IEP
 biological_processGO:0051135 positive regulation of NK T cell activation IDA
 biological_processGO:0070757 interleukin-35-mediated signaling pathway TAS
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IDA
 biological_processGO:0098586 cellular response to virus IMP
 biological_processGO:2000510 positive regulation of dendritic cell chemotaxis IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0031906 late endosome lumen TAS
 cellular_componentGO:0043514 interleukin-12 complex IDA
 molecular_functionGO:0005125 cytokine activity IEA
 molecular_functionGO:0005143 interleukin-12 receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0042163 interleukin-12 beta subunit binding IPI
 molecular_functionGO:0045513 interleukin-27 binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity IPI


Pathways (from Reactome)
Pathway description
Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling
Interleukin-35 Signalling
Interleukin-12 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
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 HP:0000155 Oral ulcers 
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 HP:0000488 Retinopathy 
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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:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000618 Blindness 
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 HP:0000737 Irritability 
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 HP:0000820 Abnormality of the thyroid gland 
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0000953 Hyperpigmentation 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001061 Acne 
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 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]
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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:0001262 Somnolence 
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 HP:0001269 Hemiparesis "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
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 HP:0001278 Orthostatic hypotension "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators]
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 HP:0001287 Meningitis 
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 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]
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 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001369 Arthritis 
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 HP:0001394 Cirrhosis 
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 HP:0001395 Hepatic fibrosis 
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 HP:0001399 Hepatic failure 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001409 Portal hypertension 
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 HP:0001482 Subcutaneous nodules 
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 HP:0001541 Ascites 
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 HP:0001637 Abnormality of the myocardium 
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 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]
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 HP:0001658 Myocardial infarction 
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 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]
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 HP:0001701 Pericarditis 
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 HP:0001733 Pancreatitis 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0001945 Fever 
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 HP:0002017 Nausea and vomiting 
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 HP:0002024 Malabsorption 
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 HP:0002027 Abdominal pain 
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 HP:0002039 Anorexia 
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 HP:0002076 Migraine 
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 HP:0002102 Pleuritis "Inflammation of the pleura." [HPO:sdoelken]
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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:0002202 Pleural effusion "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators]
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 HP:0002204 Pulmonary embolism 
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 HP:0002239 Gastrointestinal hemorrhage 
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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:0002354 Memory impairment 
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 HP:0002376 Developmental regression 
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 HP:0002383 Encephalitis 
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 HP:0002516 Increased intracranial pressure 
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 HP:0002608 Celiac disease 
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 HP:0002613 Biliary cirrhosis 
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 HP:0002633 Vasculitis 
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 HP:0002637 Cerebral ischemia 
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 HP:0002716 Lymphadenopathy 
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 HP:0002829 Arthralgia 
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 HP:0002908 Conjugated hyperbilirubinemia 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003119 Abnormality of lipid metabolism 
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 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
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 HP:0003261 Increased IgA level "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson]
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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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:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
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 HP:0004386 Gastrointestinal inflammatory disorder 
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 HP:0004420 Arterial thrombosis 
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 HP:0004936 Venous thrombosis 
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 HP:0006824 Cranial nerve paralysis 
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 HP:0007256 Mild pyramidal signs 
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 HP:0008066 Abnormal blistering of the skin 
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 HP:0010885 Aseptic necrosis "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken]
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 HP:0011040 Abnormality of the intrahepatic bile duct "An abnormality of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson]
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 HP:0011107 Recurrent aphthous stomatitis "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson]
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 HP:0011971 Dermatographic urticaria "An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson]
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 HP:0012115 Hepatitis "Inflammation of the liver." [HPO:probinson]
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 HP:0012203 Onychomycosis "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson]
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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:0100326 Immunologic hypersensitivity 
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 HP:0100584 Endocarditis "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken]
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 HP:0100614 Myositis "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken]
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 HP:0100654 Retrobulbar optic neuritis "`Optic neuritis`(HP:0100653) that occurs in the section of the optic nerve located behind the eyebal." [HPO:sdoelken]
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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:0100796 Orchitis "Testicular inflammation." [HPO:sdoelken]
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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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000113302 IL12B / P29460 / interleukin 12B  / complex
 ENSG00000105397 TYK2 / P29597 / tyrosine kinase 2  / reaction / complex
 ENSG00000081985 Q99665 / IL12RB2 / interleukin 12 receptor subunit beta 2  / reaction / complex
 ENSG00000104998 IL27RA / Q6UWB1 / interleukin 27 receptor subunit alpha  / complex
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex
 ENSG00000096996 P42701 / IL12RB1 / interleukin 12 receptor subunit beta 1  / complex / reaction
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000105246 EBI3 / Q14213 / Epstein-Barr virus induced 3  / complex
 ENSG00000127022 CANX / P27824 / calnexin  / complex
 ENSG00000168811 IL12A / P29459 / interleukin 12A  / complex
 ENSG00000134352 IL6ST / P40189 / interleukin 6 signal transducer  / complex
 ENSG00000138378 STAT4 / Q14765 / signal transducer and activator of transcription 4  / complex / reaction






 

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