ENSG00000223865


Homo sapiens

Features
Gene ID: ENSG00000223865
  
Biological name :HLA-DPB1
  
Synonyms : HLA-DPB1 / major histocompatibility complex, class II, DP beta 1 / P04440
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.32
Gene start: 33075926
Gene end: 33087201
  
Corresponding Affymetrix probe sets: 201137_s_at (Human Genome U133 Plus 2.0 Array)   244485_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000412654
Ensembl peptide - ENSP00000399832
Ensembl peptide - ENSP00000408146
NCBI entrez gene - 3115     See in Manteia.
OMIM - 142858
RefSeq - NM_002121
RefSeq Peptide - NP_002112
swissprot - P04440
swissprot - H0Y5P2
swissprot - H0Y7G7
swissprot - I4EC15
Ensembl - ENSG00000223865
  
Related genetic diseases (OMIM): 142858 - {Beryllium disease, chronic, susceptibility to}
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
 CU929676.1ENSDARG00000104635Danio rerio
 FO744840.1ENSDARG00000110501Danio rerio
 mhc2bENSDARG00000104730Danio rerio
 mhc2dabENSDARG00000079105Danio rerio
 mhc2dbbENSDARG00000056330Danio rerio
 si:busm1-104n07.3ENSDARG00000074510Danio rerio
 si:busm1-228j01.4ENSDARG00000088872Danio rerio
 si:busm1-228j01.6ENSDARG00000041705Danio rerio
 si:ch73-158p21.3ENSDARG00000101030Danio rerio
 si:zfos-2070c2.3ENSDARG00000076307Danio rerio
 zgc:103700ENSDARG00000116524Danio rerio


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HLA-DQB1 / major histocompatibility complex, class II, DQ beta 1ENSG0000017934463
P01911 / Q29974 / Q9GIY3 / P04229 / HLA-DRB1 / major histocompatibility complex, class II, DR beta 1ENSG0000019612662
P05538 / HLA-DQB2 / major histocompatibility complex, class II, DQ beta 2ENSG0000023262961
Q30154 / HLA-DRB5 / major histocompatibility complex, class II, DR beta 5ENSG0000019850260
P13765 / HLA-DOB / major histocompatibility complex, class II, DO betaENSG0000024110653
P28068 / HLA-DMB / major histocompatibility complex, class II, DM betaENSG0000024257423
AL645941.2ENSG000002489939


Protein motifs (from Interpro)
Interpro ID Name
 IPR000353  MHC class II, beta chain, N-terminal
 IPR003006  Immunoglobulin/major histocompatibility complex, conserved site
 IPR003597  Immunoglobulin C1-set
 IPR007110  Immunoglobulin-like domain
 IPR011162  MHC classes I/II-like antigen recognition protein
 IPR013783  Immunoglobulin-like fold
 IPR014745  MHC class II, alpha/beta chain, N-terminal
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0019882 antigen processing and presentation IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II IMP
 biological_processGO:0031295 T cell costimulation TAS
 biological_processGO:0032729 positive regulation of interferon-gamma production IMP
 biological_processGO:0042102 positive regulation of T cell proliferation IMP
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0050870 positive regulation of T cell activation IMP
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane TAS
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IMP
 cellular_componentGO:0010008 endosome membrane IEA
 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:0030658 transport vesicle membrane TAS
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0030669 clathrin-coated endocytic vesicle membrane TAS
 cellular_componentGO:0032588 trans-Golgi network membrane TAS
 cellular_componentGO:0042613 MHC class II protein complex IEA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS
 molecular_functionGO:0042605 peptide antigen binding IDA


Pathways (from Reactome)
Pathway description
Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
MHC class II antigen presentation
PD-1 signaling
Interferon gamma signaling


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:0000246 Sinusitis 
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 HP:0000389 Chronic otitis media 
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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:0000505 Impaired vision 
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 HP:0000520 Proptosis 
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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:0000979 Purpura 
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 HP:0000988 Skin rash 
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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:0001287 Meningitis 
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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:0001945 Fever 
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 HP:0002017 Nausea and vomiting 
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 HP:0002027 Abdominal pain 
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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: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:0002205 Recurrent respiratory infections 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002239 Gastrointestinal hemorrhage 
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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:0002633 Vasculitis 
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 HP:0002637 Cerebral ischemia 
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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:0003565 Elevated erythrocyte sedimentation rate 
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 HP:0004936 Venous thrombosis 
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 HP:0005214 Intestinal obstruction 
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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: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: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: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
No match






 

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