ENSG00000179344
Homo sapiens mhc HLA-DQB1 class ii antigen immunoglobulin-like beta chain n-terminal immunoglobulin complex domain protein immune processing presentation membrane major histocompatibility conserved site c -set classes ii-like recognition fold alpha superfamily process peptide
Features Gene ID: ENSG00000179344 Biological name :HLA-DQB1 Synonyms : HLA-DQB1 / major histocompatibility complex, class II, DQ beta 1 Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 6 Strand: -1 Band: p21.32 Gene start: 32659467 Gene end: 32668383 Corresponding Affymetrix probe sets: 209480_at (Human Genome U133 Plus 2.0 Array) 209823_x_at (Human Genome U133 Plus 2.0 Array) 210747_at (Human Genome U133 Plus 2.0 Array) 211654_x_at (Human Genome U133 Plus 2.0 Array) 211656_x_at (Human Genome U133 Plus 2.0 Array) 212998_x_at (Human Genome U133 Plus 2.0 Array) 212999_x_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP00000382029 Ensembl peptide - ENSP00000436686 Ensembl peptide - ENSP00000407332 Ensembl peptide - ENSP00000382034 Ensembl peptide - ENSP00000382032 Ensembl peptide - ENSP00000364080 NCBI entrez gene - 3119
See in Manteia .
OMIM - 604305 RefSeq - NM_002123 RefSeq - NM_001243961 RefSeq Peptide - NP_001230890 RefSeq Peptide - NP_002114 swissprot - Q5Y7D6 swissprot - A2AAZ0 swissprot - A2AAY8 swissprot - Q5SU54 swissprot - E9PIB1 Ensembl - ENSG00000179344 Related genetic diseases (OMIM): 123400 - {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 126200 - {Multiple sclerosis, susceptibility to, 1}, 126200 212750 - {Celiac disease, susceptibility to}, 212750
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 )
Paralog prediction (from Ensembl ) P05538 / HLA-DQB2 / major histocompatibility complex, class II, DQ beta 2 ENSG00000232629 79 Q30154 / HLA-DRB5 / major histocompatibility complex, class II, DR beta 5 ENSG00000198502 65 P01911 / Q29974 / Q9GIY3 / P04229 / HLA-DRB1 / major histocompatibility complex, class II, DR beta 1 ENSG00000196126 63 P04440 / HLA-DPB1 / major histocompatibility complex, class II, DP beta 1 ENSG00000223865 60 P13765 / HLA-DOB / major histocompatibility complex, class II, DO beta ENSG00000241106 55 P28068 / HLA-DMB / major histocompatibility complex, class II, DM beta ENSG00000242574 24 AL645941.2 ENSG00000248993 9
Protein motifs (from Interpro ) 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 ) antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentation immune response antigen processing and presentationantigen processing and presentation immune responseimmune response membrane cell protein-containing complex membrane cell protein-containing complex membrane cell protein-containing complex membrane cell protein-containing complex membrane cell protein-containing complex membrane cell protein-containing complex membrane cell protein-containing complex membrane cell protein-containing complex membrane cell protein-containing complex membrane cell protein-containing complex membranemembrane cellcell protein-containing complexprotein-containing complex
Pathways (from Reactome )No match
Phenotype (from MGI , Zfin or HPO ) Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of the eyes Neurological abnormality Metabolism abnormality Endocrine abnormality Integument abnormality Immunological abnormality Abnormality of the cardiovascular system Growth abnormality Abnormality of the digestive system Abnormality of Abnormality of the eyes Neurological abNeurological abnormality Metabolism abnoMetabolism abnormality Endocrine abnorEndocrine abnormality Integument abnoIntegument abnormality Immunological aImmunological abnormality Abnormality of Abnormality of the cardiovascular system Growth abnormalGrowth abnormality Abnormality of Abnormality of the digestive system HP:0000504 Abnormality of vision "Abnormality of eyesight (visual perception)." [HPO:curators]
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HP:0000738 Hallucinations
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HP:0000819 Diabetes mellitus
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HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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HP:0001025 Urticaria
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HP:0001262 Somnolence
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HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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HP:0001350 Slurred speech
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HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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HP:0001824 Weight loss
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HP:0002189 Excessive daytime sleepiness
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HP:0002494 Abnormal rapid eye movement (REM) sleep "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements." [HPO:curators]
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HP:0002524 Cataplexy
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HP:0002571 Achalasia
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HP:0002719 Recurrent infections
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HP:0002960 Autoimmune disease
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HP:0003765 Psoriasis
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HP:0008066 Abnormal blistering of the skin
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HP:0010534 Transient global amnesia "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information." [HPO:curators]
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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: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:0100785 Insomnia
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Interacting proteins (from Reactome )No match
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