HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1) - Rat Genome Database

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Gene: HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1) Homo sapiens
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Symbol: HLA-DQB1
Name: major histocompatibility complex, class II, DQ beta 1
RGD ID: 1353906
HGNC Page HGNC:4944
Description: Predicted to enable MHC class II protein complex binding activity and peptide antigen binding activity. Involved in T cell receptor signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class II; and humoral immune response. Located in membrane. Implicated in several diseases, including allergic disease (multiple); autoimmune disease (multiple); bacterial infectious disease (multiple); hematologic cancer (multiple); and liver disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CELIAC1; HLA class II antigen; HLA class II histocompatibility antigen, DQ beta 1 chain; HLA-DQB; HLA-DRB1; IDDM1; lymphocyte antigen; major histocompatibility complex class II beta; MHC class II antigen DQB1; MHC class II antigen HLA-DQ-beta-1; MHC class II DQ beta chain; MHC class II HLA-DQ beta glycoprotein; MHC class2 antigen; MHC DQ beta
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38632,659,467 - 32,666,657 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl632,659,467 - 32,668,383 (-)EnsemblGRCh38hg38GRCh38
GRCh37632,627,244 - 32,634,434 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,735,635 - 32,742,444 (-)NCBINCBI36Build 36hg18NCBI36
Celera634,177,338 - 34,182,264 (-)NCBICelera
Cytogenetic Map6p21.32NCBI
HuRef632,368,943 - 32,376,157 (-)NCBIHuRef
CHM1_1632,629,719 - 32,636,944 (-)NCBICHM1_1
T2T-CHM13v2.0632,482,491 - 32,489,842 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
achalasia  (EXP,IAGP)
acute disseminated encephalomyelitis  (IAGP)
acute lymphoblastic leukemia  (IAGP)
acute myeloid leukemia  (IAGP)
Addison's disease  (IAGP)
agranulocytosis  (IAGP)
allergic bronchopulmonary aspergillosis  (IAGP)
allergic disease  (EXP,IAGP)
alopecia areata  (IAGP)
alveolar echinococcosis  (IAGP)
Amebic Liver Abscess  (IAGP)
angioedema  (EXP)
ankylosing spondylitis  (IAGP)
antiphospholipid syndrome  (IAGP)
aplastic anemia  (IAGP)
arthritis  (IAGP)
aspirin-induced respiratory disease  (IAGP)
asthma  (EXP,IAGP)
atrophic gastritis  (IAGP)
autoimmune disease  (IAGP)
autoimmune hepatitis  (IAGP)
autoimmune pancreatitis  (IAGP)
autoimmune polyendocrine syndrome  (IAGP)
autoimmune polyendocrine syndrome type 2  (IAGP)
autoimmune thrombocytopenic purpura  (IAGP)
autoimmune thyroiditis  (IAGP)
bacterial infectious disease  (IAGP)
Behcet's disease  (IAGP)
beta thalassemia  (IAGP)
Cataplexy  (IAGP)
celiac disease  (EXP,IAGP,IMP)
cervical cancer  (IAGP)
cervical dystonia  (IAGP)
Chemical and Drug Induced Liver Injury  (EXP,IAGP)
chikungunya  (IAGP)
choreatic disease  (IAGP)
Chronic Hepatitis B  (IAGP)
Chronic Hepatitis C  (IAGP)
chronic myeloid leukemia  (IAGP)
cicatricial pemphigoid  (IAGP)
colorectal cancer  (IAGP)
common variable immunodeficiency  (IAGP)
common wart  (IAGP)
COVID-19  (HEP)
Creutzfeldt-Jakob disease  (EXP,IAGP)
Crohn's disease  (IAGP)
cystic echinococcosis  (IAGP)
degenerative myopia  (IAGP)
Delayed Hypersensitivity  (ISO)
dental caries  (IAGP)
diabetic retinopathy  (IAGP)
dilated cardiomyopathy  (IAGP)
dilated cardiomyopathy 1H  (IAGP)
Drug Eruptions  (EXP)
Drug-induced Neutropenia  (IAGP)
End Stage Liver Disease  (IAGP)
erythema multiforme  (IAGP)
Experimental Autoimmune Encephalomyelitis  (IMP,ISO)
glaucoma  (IAGP)
Graves' disease  (IAGP)
Hashimoto Disease  (IAGP)
Helicobacter Infections  (IAGP)
hepatitis B  (IAGP)
hepatitis C  (IAGP)
hepatocellular carcinoma  (IAGP)
human immunodeficiency virus infectious disease  (IAGP)
hyperthyroidism  (IAGP)
hypothyroidism  (IAGP)
Idiopathic Hypersomnolence  (IAGP)
IgA glomerulonephritis  (EXP,IAGP)
immunoglobulin alpha deficiency  (IAGP)
iridocyclitis  (IAGP)
juvenile rheumatoid arthritis  (IAGP)
latex allergy  (IAGP)
liver cirrhosis  (IAGP)
marginal zone lymphoma  (IAGP)
multidrug-resistant tuberculosis  (IAGP)
multiple sclerosis  (EXP,IAGP)
myasthenia gravis  (IAGP)
mycosis fungoides  (IAGP)
myocarditis  (IAGP)
myositis  (IAGP)
narcolepsy  (EXP,IAGP)
Nasal Polyps  (IAGP)
neuromyelitis optica  (IAGP)
optic neuritis  (IAGP)
Oropharyngeal Neoplasms  (EXP)
osteomyelitis  (IAGP)
paroxysmal nocturnal hemoglobinuria  (IAGP)
pemphigus  (IAGP)
pemphigus vulgaris  (IAGP)
Plasmodium falciparum malaria  (IAGP)
pneumoconiosis  (IAGP)
pneumocystosis  (ISO)
pre-eclampsia  (IAGP)
primary progressive multiple sclerosis  (IAGP)
primary sclerosing cholangitis  (IAGP)
proteasome-associated autoinflammatory syndrome 1  (IAGP)
psoriasis  (IAGP)
pulmonary tuberculosis  (IAGP)
pure red-cell aplasia  (IAGP)
Recurrent Respiratory Papillomatosis  (IAGP)
rheumatic fever  (IAGP)
rheumatic heart disease  (IAGP)
rheumatoid arthritis  (IAGP)
rhinitis  (IAGP)
rhinoscleroma  (IAGP)
Rhinosinusitis, Allergic Fungal  (IAGP)
sarcoidosis  (IAGP)
Seasonal Allergic Rhinitis  (IAGP)
sickle cell anemia  (IAGP)
silicosis  (IAGP)
Sjogren's syndrome  (IAGP)
Sleep Initiation and Maintenance Disorders  (IAGP)
Small Fiber Neuropathy  (IAGP)
Stevens-Johnson syndrome  (IAGP)
stomach disease  (IAGP)
Stroke  (IAGP)
systemic lupus erythematosus  (IAGP)
systemic scleroderma  (EXP)
thrombotic thrombocytopenic purpura  (IAGP)
Transplant Rejection  (ISO)
tropical spastic paraparesis  (IAGP)
tuberculosis  (IAGP)
Tubulointerstitial Nephritis and Uveitis  (IAGP)
type 1 diabetes mellitus  (EXP,IAGP)
typhoid fever  (IAGP)
ulcerative colitis  (IAGP)
urticaria  (EXP)
Uterine Cervical Dysplasia  (IAGP)
uveitis  (ISO)
Veno-Occlusive Disease  (IAGP)
vitiligo  (IAGP)
Vogt-Koyanagi-Harada disease  (IAGP)
vulva cancer  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-dioxane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-butoxyethanol  (ISO)
2-nitrofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amoxicillin  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
capsaicin  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cefuroxime  (EXP)
chlorohydrocarbon  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
clothianidin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corn oil  (ISO)
Cuprizon  (ISO)
cyclosporin A  (ISO)
D-glucose  (ISO)
daidzein  (ISO)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
Dibutyl phosphate  (EXP)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diquat  (ISO)
doramapimod  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
fenoprofen  (EXP)
fenthion  (ISO)
ferroheme b  (ISO)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
heme b  (ISO)
hexachlorobenzene  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
ketoconazole  (ISO)
ketoprofen  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (ISO)
lumiracoxib  (EXP)
menadione  (ISO)
mercury atom  (EXP,ISO)
mercury(0)  (EXP,ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
metronidazole  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-(6-acetamidohexyl)acetamide  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nicotine  (EXP)
nifedipine  (EXP)
oxaprozin  (EXP)
ozone  (ISO)
palladium  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentamidine  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenacetin  (ISO)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
quercetin  (ISO)
raloxifene  (ISO)
rifampicin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sulfasalazine  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tolmetin  (EXP)
toluene  (ISO)
toluene 2,4-diisocyanate  (EXP)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (ISO)
zebularine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal cerebrospinal fluid morphology  (IAGP)
Abnormal conjunctiva morphology  (IAGP)
Abnormal nervous system physiology  (IAGP)
Abnormal platelet count  (IAGP)
Abnormal pupillary function  (IAGP)
Abnormal rapid eye movement sleep  (IAGP)
Abnormal stomach morphology  (IAGP)
Abnormality of the abdominal wall  (IAGP)
Abnormality of the coagulation cascade  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Adult onset  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Anterior uveitis  (IAGP)
Anti-BP180 antibody positivity  (IAGP)
Anti-BP230 antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Asthma  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Back pain  (IAGP)
Bronchitis  (IAGP)
Cataplexy  (IAGP)
Celiac disease  (IAGP)
Cerebral calcification  (IAGP)
Chest pain  (IAGP)
Chorea  (IAGP)
Chronic sinusitis  (IAGP)
CNS demyelination  (IAGP)
Confusion  (IAGP)
Constipation  (IAGP)
Cough  (IAGP)
Decreased circulating IgA concentration  (IAGP)
Decreased circulating prealbumin concentration  (IAGP)
Decreased circulating vitamin B12 concentration  (IAGP)
Decreased circulating vitamin D concentration  (IAGP)
Decreased circulating vitamin K concentration  (IAGP)
Decreased thyroid-stimulating hormone level  (IAGP)
Delayed puberty  (IAGP)
Delusion  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Diplopia  (IAGP)
Drooling  (IAGP)
Dysphagia  (IAGP)
Eczematoid dermatitis  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating D-dimer concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
EMG abnormality  (IAGP)
Emotional lability  (IAGP)
Enamel hypoplasia  (IAGP)
Erythema  (IAGP)
Excessive daytime somnolence  (IAGP)
Extrapyramidal muscular rigidity  (IAGP)
Failure to thrive  (IAGP)
Fatigable weakness  (IAGP)
Female sexual dysfunction  (IAGP)
Fever  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Genital ulcers  (IAGP)
Goiter  (IAGP)
Hallucinations  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Hemolytic anemia  (IAGP)
Hyperhidrosis  (IAGP)
Hypertension  (IAGP)
Hypnagogic hallucination  (IAGP)
Hypnopompic hallucination  (IAGP)
Hypocalcemia  (IAGP)
Impaired temperature sensation  (IAGP)
Incoordination  (IAGP)
Increased circulating antibody concentration  (IAGP)
Increased circulating free T3  (IAGP)
Increased circulating IgE concentration  (IAGP)
Increased circulating T4 concentration  (IAGP)
Increased CSF protein concentration  (IAGP)
Infertility  (IAGP)
Inflammatory abnormality of the skin  (IAGP)
Insomnia  (IAGP)
Invasive parasitic infection  (IAGP)
Iron deficiency anemia  (IAGP)
Irritability  (IAGP)
Ischemic stroke  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Linear IgG deposits along the epidermal basement membrane zone  (IAGP)
Loss of facial expression  (IAGP)
Lymphoma  (IAGP)
Macrocytic anemia  (IAGP)
Macule  (IAGP)
Male sexual dysfunction  (IAGP)
Malnutrition  (IAGP)
Memory impairment  (IAGP)
Middle age onset  (IAGP)
Migraine  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Muscle weakness  (IAGP)
Myocarditis  (IAGP)
Myoclonus  (IAGP)
Myositis  (IAGP)
Narcolepsy  (IAGP)
Nasal congestion  (IAGP)
Nasal polyposis  (IAGP)
Nocturia  (IAGP)
Non-Mendelian inheritance  (IAGP)
NREM parasomnia  (IAGP)
Obesity  (IAGP)
Optic neuritis  (IAGP)
Oral mucosal blisters  (IAGP)
Oral ulcer  (IAGP)
Osteomyelitis  (IAGP)
Osteoporosis  (IAGP)
Pancreatitis  (IAGP)
Paresthesia  (IAGP)
Personality changes  (IAGP)
Polyneuropathy  (IAGP)
Postnatal growth retardation  (IAGP)
Precocious puberty  (IAGP)
Primary adrenal insufficiency  (IAGP)
Prolonged partial thromboplastin time  (IAGP)
Prolonged prothrombin time  (IAGP)
Pruritus  (IAGP)
Psoriasiform dermatitis  (IAGP)
Psychosis  (IAGP)
Rapidly progressive  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Recurrent infections  (IAGP)
Reduced blood folate concentration  (IAGP)
Restless legs  (IAGP)
Restlessness  (IAGP)
Reticulocytopenia  (IAGP)
Reticulocytosis  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal vascular malformation  (IAGP)
Rhinorrhea  (IAGP)
Rickets  (IAGP)
Sacroiliac arthritis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Sleep paralysis  (IAGP)
Slurred speech  (IAGP)
Spasticity  (IAGP)
Steatorrhea  (IAGP)
Stomatitis  (IAGP)
Subcutaneous nodule  (IAGP)
Supranuclear gaze palsy  (IAGP)
Syncope  (IAGP)
Thrombocytosis  (IAGP)
Thyroid hyperplasia  (IAGP)
Thyroiditis  (IAGP)
Transient global amnesia  (IAGP)
Type I diabetes mellitus  (IAGP)
Urinary hesitancy  (IAGP)
Urinary incontinence  (IAGP)
Urticaria  (IAGP)
Uveitis  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Wheezing  (IAGP)
Xerostomia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Treatment of autoimmune anterior uveitis with recombinant TCR ligands. Adamus G, etal., Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2555-61.
2. HLA-DQB1*0201/0302 is associated with severe retinopathy in patients with IDDM. Agardh D, etal., Diabetologia. 1996 Nov;39(11):1313-7.
3. Evidence for HLA class II susceptible and protective haplotypes for osteomyelitis in pediatric patients with sickle cell anemia. Al-Ola K, etal., Tissue Antigens. 2008 May;71(5):453-7. doi: 10.1111/j.1399-0039.2008.01012.x. Epub 2008 Feb 28.
4. Acute disseminated encephalomyelitis: clinical features, HLA DRB1*1501, HLA DRB1*1503, HLA DQA1*0102, HLA DQB1*0602, and HLA DPA1*0301 allelic association study. Alves-Leon SV, etal., Arq Neuropsiquiatr. 2009 Sep;67(3A):643-51.
5. [Immunogenetic aspects of the course and treatment of pulmonary tuberculosis]. Archakova LI, etal., Probl Tuberk Bolezn Legk. 2008;(12):34-7.
6. HLA, PTPN22 and PD-1 associations as markers of autoimmunity in neuromyelitis optica. Asgari N, etal., Mult Scler. 2012 Jan;18(1):23-30. doi: 10.1177/1352458511417480. Epub 2011 Sep 9.
7. Candidate gene analysis identifies a polymorphism in HLA-DQB1 associated with clozapine-induced agranulocytosis. Athanasiou MC, etal., J Clin Psychiatry. 2011 Apr;72(4):458-63. doi: 10.4088/JCP.09m05527yel. Epub 2010 Sep 21.
8. Risk of recurrence of primary sclerosing cholangitis after liver transplantation is associated with de novo inflammatory bowel disease. Bajer L, etal., World J Gastroenterol. 2018 Nov 21;24(43):4939-4949. doi: 10.3748/wjg.v24.i43.4939.
9. [Association of the relationship between HLA-DQB1 alleles and major beta-thalassemia in 42 guangdong Chinese]. Bao R, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2002 Feb;10(1):87-8.
10. Opposing effects of the HLA-DRB1*0301-DQB1*0201 haplotype on the risk for multiple sclerosis in diverse Arab populations in Israel. Benedek G, etal., Genes Immun. 2010 Jul;11(5):423-31. Epub 2010 May 13.
11. HLA class II distribution in Congolese with hyperthyroidism: preliminary results. Bidingija M, etal., Ann Endocrinol (Paris). 2006 Dec;67(6):596-603.
12. Genetic basis of the latex-fruit syndrome: association with HLA class II alleles in a Spanish population. Blanco C, etal., J Allergy Clin Immunol. 2004 Nov;114(5):1070-6.
13. Identification of HLA-DR and -DQ alleles conferring susceptibility to pollen allergy and pollen associated food allergy. Boehncke WH, etal., Clin Exp Allergy. 1998 Apr;28(4):434-41.
14. HLA alleles, IFN-gamma responses to HPV-11 E6, and disease severity in patients with recurrent respiratory papillomatosis. Bonagura VR, etal., Hum Immunol. 2004 Aug;65(8):773-82.
15. Activating killer cell immunoglobulin-like receptors 3DS1 and 2DS1 protect against developing the severe form of recurrent respiratory papillomatosis. Bonagura VR, etal., Hum Immunol. 2010 Feb;71(2):212-9. doi: 10.1016/j.humimm.2009.10.009. Epub 2009 Oct 25.
16. Prevalence and clinical characteristics of celiac disease in Downs syndrome in a US study. Book L, etal., Am J Med Genet. 2001 Jan 1;98(1):70-4.
17. HLA-DQ: Celiac disease vs inflammatory bowel disease. Bosca-Watts MM, etal., World J Gastroenterol. 2018 Jan 7;24(1):96-103. doi: 10.3748/wjg.v24.i1.96.
18. Increased occurrence of anti-AQP4 seropositivity and unique HLA Class II associations with neuromyelitis optica (NMO), among Muslim Arabs in Israel. Brill L, etal., J Neuroimmunol. 2016 Apr 15;293:65-70. doi: 10.1016/j.jneuroim.2016.02.006. Epub 2016 Feb 15.
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PMID:38579189   PMID:38799118   PMID:39041300  


Genomics

Comparative Map Data
HLA-DQB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38632,659,467 - 32,666,657 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl632,659,467 - 32,668,383 (-)EnsemblGRCh38hg38GRCh38
GRCh37632,627,244 - 32,634,434 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,735,635 - 32,742,444 (-)NCBINCBI36Build 36hg18NCBI36
Celera634,177,338 - 34,182,264 (-)NCBICelera
Cytogenetic Map6p21.32NCBI
HuRef632,368,943 - 32,376,157 (-)NCBIHuRef
CHM1_1632,629,719 - 32,636,944 (-)NCBICHM1_1
T2T-CHM13v2.0632,482,491 - 32,489,842 (-)NCBIT2T-CHM13v2.0
H2-Ab1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391734,482,201 - 34,488,392 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1734,476,663 - 34,488,393 (+)EnsemblGRCm39 Ensembl
GRCm381734,263,227 - 34,269,418 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1734,257,689 - 34,269,419 (+)EnsemblGRCm38mm10GRCm38
MGSCv371734,400,172 - 34,406,363 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361733,871,432 - 33,877,605 (+)NCBIMGSCv36mm8
Celera1737,017,337 - 37,030,239 (+)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1717.98NCBI
RT1-Bb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8204,598,475 - 4,604,118 (-)NCBIGRCr8
mRatBN7.2204,596,558 - 4,602,201 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl204,596,559 - 4,607,597 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_WKY_Bbb_1.0205,193,861 - 5,199,480 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0204,043,726 - 4,049,367 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl204,039,413 - 4,049,711 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0206,123,272 - 6,128,913 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4204,730,559 - 4,736,201 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1204,730,786 - 4,736,413 (-)NCBI
Celera206,197,565 - 6,203,195 (-)NCBICelera
Cytogenetic Map20p12NCBI
LOC100972994
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2547,142,796 - 47,149,644 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1643,014,552 - 43,021,397 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0632,237,395 - 32,244,201 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1633,353,599 - 33,360,284 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl633,353,599 - 33,360,272 (-)Ensemblpanpan1.1panPan2
DLA-DQB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1122,305,307 - 2,307,711 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0122,520,814 - 2,526,447 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1122,243,878 - 2,249,524 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0122,325,185 - 2,330,844 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0122,399,342 - 2,404,990 (-)NCBIUU_Cfam_GSD_1.0
LOC101703821
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475423,895,607 - 23,906,713 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475423,895,509 - 23,902,487 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HLA-DQB1
49 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p21.32(chr6:32482945-32669311)x3 copy number gain See cases [RCV000136379] Chr6:32482945..32669311 [GRCh38]
Chr6:32450722..32637088 [GRCh37]
Chr6:32558700..32745066 [NCBI36]
Chr6:6p21.32
benign
GRCh38/hg38 6p21.32(chr6:32529565-32721089)x3 copy number gain See cases [RCV000138472] Chr6:32529565..32721089 [GRCh38]
Chr6:32497342..32688866 [GRCh37]
Chr6:32605320..32796844 [NCBI36]
Chr6:6p21.32
likely benign
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207075] Chr6:32188383..32629802 [GRCh37]
Chr6:6p21.32
uncertain significance
chr6:32609097-32629809 complex variant complex Breast ductal adenocarcinoma [RCV000207301] Chr6:32609097..32629809 [GRCh37]
Chr6:6p21.32
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2
uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup duplication not provided [RCV003154914] Chr6:32148920..36953949 [GRCh37]
Chr6:6p21.32-21.2
uncertain significance
NM_002123.5(HLA-DQB1):c.81C>T (p.Ser27=) single nucleotide variant not provided [RCV003431802] Chr6:32666527 [GRCh38]
Chr6:32634304 [GRCh37]
Chr6:6p21.32
likely benign
NM_002123.5(HLA-DQB1):c.84A>C (p.Leu28=) single nucleotide variant not provided [RCV003431801] Chr6:32666524 [GRCh38]
Chr6:32634301 [GRCh37]
Chr6:6p21.32
likely benign
NM_002123.5(HLA-DQB1):c.319T>C (p.Leu107=) single nucleotide variant not provided [RCV003428823] Chr6:32664858 [GRCh38]
Chr6:32632635 [GRCh37]
Chr6:6p21.32
likely benign
NM_002123.5(HLA-DQB1):c.80_81insTT (p.Leu28fs) insertion not provided [RCV003428824] Chr6:32666527..32666528 [GRCh38]
Chr6:32634304..32634305 [GRCh37]
Chr6:6p21.32
benign
NM_002123.5(HLA-DQB1):c.370_379+2del deletion Susceptibility to severe COVID-19 [RCV004598565] Chr6:32664796..32664807 [GRCh38]
Chr6:32632573..32632584 [GRCh37]
Chr6:6p21.32
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2461
Count of miRNA genes:551
Interacting mature miRNAs:592
Transcripts:ENST00000374943, ENST00000399079, ENST00000399082, ENST00000399084, ENST00000434651, ENST00000460185, ENST00000484729, ENST00000487676
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407015459GWAS664435_Hdrug-induced liver injury QTL GWAS664435 (human)5e-14drug-induced liver injury63266505532665056Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
407043690GWAS692666_Heosinophil percentage of leukocytes QTL GWAS692666 (human)9e-16eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)63266547032665471Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
407135479GWAS784455_HL lactate dehydrogenase measurement QTL GWAS784455 (human)2e-22L lactate dehydrogenase measurement63266482132664822Human
407081109GWAS730085_Hulcerative colitis QTL GWAS730085 (human)0.000002ulcerative colitis63265993732659938Human
407043989GWAS692965_Hocular sarcoidosis QTL GWAS692965 (human)0.000001eye integrity trait (VT:0011107)63266644932666450Human
406967037GWAS616013_Hnarcolepsy-cataplexy syndrome, age at onset QTL GWAS616013 (human)2e-08narcolepsy-cataplexy syndrome, age at onset63266593632665937Human
1358857MULTSCL19_HMultiple sclerosis suscepti