ENSG00000179344
Homo sapiens | |
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)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| 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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