ENSG00000234745


Homo sapiens

Features
Gene ID: ENSG00000234745
  
Biological name :HLA-B
  
Synonyms : HLA-B / major histocompatibility complex, class I, B / P01889 / P30480 / P30486 / Q29836 / Q31610 / Q31612
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.33
Gene start: 31269491
Gene end: 31357188
  
Corresponding Affymetrix probe sets: 208729_x_at (Human Genome U133 Plus 2.0 Array)   209140_x_at (Human Genome U133 Plus 2.0 Array)   211911_x_at (Human Genome U133 Plus 2.0 Array)   216526_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000399168
Ensembl peptide - ENSP00000491739
Ensembl peptide - ENSP00000491291
Ensembl peptide - ENSP00000491275
Ensembl peptide - ENSP00000405931
NCBI entrez gene - 3106     See in Manteia.
OMIM - 142830
RefSeq - NM_005514
RefSeq - XM_011514557
swissprot - A0A1W2PPR8
swissprot - A0A1W2PP29
swissprot - F6U0H7
swissprot - E5FQ95
swissprot - P30480
swissprot - P30486
swissprot - Q29836
swissprot - Q31610
swissprot - Q31612
swissprot - P01889
swissprot - A0A1W2PQE2
Ensembl - ENSG00000234745
  
Related genetic diseases (OMIM): 106300 - {Spondyloarthropathy, susceptibility to, 1}, 106300
  142830 - {Abacavir hypersensitivity, susceptibility to}
  608579 - {Stevens-Johnson syndrome, susceptibility to}, 608579
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
 Gm11127ENSMUSG00000079492Mus musculus
 Gm7030ENSMUSG00000092243Mus musculus
 Gm8909ENSMUSG00000073402Mus musculus
 H2-BlENSMUSG00000073406Mus musculus
 H2-D1ENSMUSG00000073411Mus musculus
 H2-K1ENSMUSG00000061232Mus musculus
 H2-M1ENSMUSG00000037334Mus musculus
 H2-M11ENSMUSG00000037537Mus musculus
 H2-M2ENSMUSG00000016283Mus musculus
 H2-M3ENSMUSG00000016206Mus musculus
 H2-M5ENSMUSG00000024459Mus musculus
 H2-M9ENSMUSG00000067201Mus musculus
 H2-Q1ENSMUSG00000079507Mus musculus
 H2-Q10ENSMUSG00000067235Mus musculus
 H2-Q2ENSMUSG00000091705Mus musculus
 H2-Q4ENSMUSG00000035929Mus musculus
 H2-Q5ENSMUSG00000055413Mus musculus
 H2-Q6ENSMUSG00000073409Mus musculus
 H2-Q7ENSMUSG00000060550Mus musculus
 H2-T23ENSMUSG00000067212Mus musculus
 H2-T3ENSMUSG00000054128Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HLA-C / P10321 / major histocompatibility complex, class I, CENSG0000020452586
HLA-A / P04439 / P13746 / P16188 / major histocompatibility complex, class I, AENSG0000020650386
HLA-F / P30511 / major histocompatibility complex, class I, FENSG0000020464277
HLA-E / major histocompatibility complex, class I, EENSG0000020459276
HLA-G / P17693 / major histocompatibility complex, class I, GENSG0000020463275


Protein motifs (from Interpro)
Interpro ID Name
 IPR001039  MHC class I alpha chain, alpha1 alpha2 domains
 IPR003006  Immunoglobulin/major histocompatibility complex, conserved site
 IPR003597  Immunoglobulin C1-set
 IPR007110  Immunoglobulin-like domain
 IPR010579  MHC class I, alpha chain, C-terminal
 IPR011161  MHC class I-like antigen recognition-like
 IPR011162  MHC classes I/II-like antigen recognition protein
 IPR013783  Immunoglobulin-like fold
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR036179  Immunoglobulin-like domain superfamily
 IPR037055  MHC class I-like antigen recognition-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
 biological_processGO:0002667 regulation of T cell anergy IMP
 biological_processGO:0006955 immune response IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0019882 antigen processing and presentation IEA
 biological_processGO:0032655 regulation of interleukin-12 production IMP
 biological_processGO:0032675 regulation of interleukin-6 production IMP
 biological_processGO:0042270 protection from natural killer cell mediated cytotoxicity IDA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0060337 type I interferon signaling pathway TAS
 biological_processGO:2001198 regulation of dendritic cell differentiation IMP
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005794 Golgi apparatus ISS
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005887 integral component of plasma membrane NAS
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0031901 early endosome membrane TAS
 cellular_componentGO:0042612 MHC class I protein complex IEA
 cellular_componentGO:0055038 recycling endosome membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS
 molecular_functionGO:0005102 signaling receptor binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042605 peptide antigen binding IBA


Pathways (from Reactome)
Pathway description
ER-Phagosome pathway
Endosomal/Vacuolar pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Neutrophil degranulation
Interferon gamma signaling
Interferon alpha/beta signaling
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


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:0000505 Impaired vision 
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 HP:0000509 Conjunctivitis "Inflammation of the conjunctiva." [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: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:0000621 Entropion "An abnormal turning inward of the upper and/or lower eyelid." [HPO:sdoelken]
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 HP:0000737 Irritability 
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 HP:0000795 Abnormality of the urethra "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [HPO:curators]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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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: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: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:0001324 Muscle weakness "Reduced strength of muscles." [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:0001482 Subcutaneous nodules 
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 HP:0001637 Abnormality of the myocardium 
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001645 Sudden cardiac death 
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 HP:0001646 Abnormality of the aortic valve "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators]
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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:0001873 Thrombocytopenia 
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 HP:0001874 Abnormality of neutrophil 
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 HP:0001903 Anemia 
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 HP:0001945 Fever 
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 HP:0001960 Hypokalemic metabolic alkalosis 
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 HP:0002014 Diarrhea 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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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:0002043 Esophageal stricture 
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 HP:0002076 Migraine 
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 HP:0002091 Restrictive lung disease 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002094 Dyspnea 
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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:0002167 Neurological speech impairment 
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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:0002205 Recurrent respiratory infections 
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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:0002633 Vasculitis 
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 HP:0002637 Cerebral ischemia 
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 HP:0002716 Lymphadenopathy 
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 HP:0002793 Abnormal respiratory patterns 
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 HP:0002829 Arthralgia 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [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:0003781 Excessive salivation 
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 HP:0004306 Abnormality of the endocardium "An abnormality of the `endocardium` (FMA:7280)." [HPO:probinson]
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 HP:0004372 Reduced consciousness/confusion 
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 HP:0004420 Arterial thrombosis 
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 HP:0004936 Venous thrombosis 
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 HP:0004970 Ascending aortic dilation 
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 HP:0005244 Gastrointestinal infarctions 
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 HP:0006554 Acute hepatic failure "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators]
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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:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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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:0011107 Recurrent aphthous stomatitis "Recurrent episodes of ulceration of the oral mucosa." [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:0012733 Macule "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [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:0030016 Dyspareunia "Recurrent or persistent genital pain associated with sexual intercourse." []
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 HP:0100326 Immunologic hypersensitivity 
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 HP:0100518 Dysuria "Painful or difficult `urination` (GO:0060073)." [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: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: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:0100735 Hypertensive crisis 
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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:0100792 Acantolysis "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes." [HPO:sdoelken]
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 HP:0100796 Orchitis "Testicular inflammation." [HPO:sdoelken]
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 HP:0100806 Sepsis 
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 HP:0100820 Glomerulopathy "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken]
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 HP:0200020 Corneal erosions "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [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
No match






 

0 s.

 
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