Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	3112
Gene name	Major histocompatibility complex, class II, DO beta
Gene symbol	HLA-DOB
Synonyms (NCBI Gene)	DOBHLA_DOB
Chromosome	6
Chromosome location	6p21.32
Summary	HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading o

22 Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT526746	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT526745	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT526744	hsa-miR-513b-3p	PAR-CLIP	22012620
MIRT526743	hsa-miR-4301	PAR-CLIP	22012620
MIRT526742	hsa-miR-616-3p	PAR-CLIP	22012620
MIRT526741	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT526740	hsa-miR-1260a	PAR-CLIP	22012620
MIRT526739	hsa-miR-1260b	PAR-CLIP	22012620
MIRT526738	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT526746	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT526745	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT526744	hsa-miR-513b-3p	PAR-CLIP	22012620
MIRT526743	hsa-miR-4301	PAR-CLIP	22012620
MIRT526742	hsa-miR-616-3p	PAR-CLIP	22012620
MIRT526741	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT526740	hsa-miR-1260a	PAR-CLIP	22012620
MIRT526739	hsa-miR-1260b	PAR-CLIP	22012620
MIRT526738	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT2243272	hsa-miR-4270	CLIP-seq
MIRT2243273	hsa-miR-4441	CLIP-seq
MIRT2243274	hsa-miR-4691-5p	CLIP-seq
MIRT2243275	hsa-miR-4772-5p	CLIP-seq

7 Show/Hide all (7)

Transcription factor	Regulation	Reference
CIITA	Activation	11823510
CREB1	Unknown	12938212
POU2F2	Unknown	12938212
RFX1	Unknown	12938212
RFX5	Unknown	11258423
RFXANK	Unknown	11258423;12938212
RFXAP	Unknown	11258423

26 Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IBA
GO:0002504	Process	Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	IEA
GO:0002587	Process	Negative regulation of antigen processing and presentation of peptide antigen via MHC class II	IDA	22733780
GO:0005764	Component	Lysosome	IDA	8890155
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0006955	Process	Immune response	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IBA
GO:0023026	Function	MHC class II protein complex binding	IBA
GO:0023026	Function	MHC class II protein complex binding	IDA	22733780
GO:0031902	Component	Late endosome membrane	IBA
GO:0032395	Function	MHC class II receptor activity	TAS	2998758
GO:0042605	Function	Peptide antigen binding	IBA
GO:0042613	Component	MHC class II protein complex	IBA
GO:0042613	Component	MHC class II protein complex	IDA	22733780
GO:0042613	Component	MHC class II protein complex	IEA
GO:0050778	Process	Positive regulation of immune response	IBA
GO:0050870	Process	Positive regulation of T cell activation	IBA

MIM	HGNC	e!Ensembl
600629	4937	ENSG00000241106

P13765

Protein name

HLA class II histocompatibility antigen, DO beta chain (MHC class II antigen DOB)

Protein function

Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM.

PDB

4I0P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00969	MHC_II_beta	39 → 113	Class II histocompatibility antigen, beta domain	Domain
PF07654	C1-set	125 → 206	Immunoglobulin C1-set domain	Domain

Sequence

MGSGWVPWVVALLVNLTRLDSSMTQGTDSPEDFVIQAKADCYFTNGTEKVQFVVRFIFNL
EEYVRFDSDVGMFVALTKLGQPDAEQWNSRLDLLERSRQAVDGVCRHNYRLGAPFTVGRK
VQPEVTVYPERTPLLHQHNLLHCSVTGFYPGDIKIKWFLNGQEERAGVMSTGPIRNGDWT
FQTVVMLEMTPELGHVYTCLVDHSSLLSPVSVEWRAQSEYSWRKMLSGIAAFLLGLIFLL
VGIVIQLRAQKGYVRTQMSGNEVSRAVLLPQSC

Sequence length

273

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Phagosome	MHC class II antigen presentation
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Intestinal immune network for IgA production
Type I diabetes mellitus
Leishmaniasis
Toxoplasmosis
Staphylococcus aureus infection
Tuberculosis
Influenza A
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (34)
ASTHMA	—	GWAS catalog	31361310, 31669095, 37560908	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	31669095	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	38154582	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	38538606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	38538606	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	34011352	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	39620209	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	33235445	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	35285134	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	38154582	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	32341527	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	38368726	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	37377963	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	GWAS catalog	23349640	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	22446962, 33106546	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	37377963	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	38072966	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	39885523	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	30552173	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	26272072, 37377963, 38368726, 39620209	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	26651848	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764, 30285260, 36329495	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	38490347	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	33272962	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	37377963	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30054458, 36329495, 38374256, 38685053	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	33667223	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (30)
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	30299251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	30299251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32890573	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	LHGDN	12439622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23228987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	36221383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	33235138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	28934294	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	37440754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12706109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	34545294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	2317557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	35689443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31551439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23228987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12439622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	25101798, 34193364	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	25101798		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	24032635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	26272072		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26651848		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	26674772		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35546566	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HLA-DQB2	7	["Bullous pemphigoid","Celiac disease","Interstitial cystitis","Lymphoma","Kawasaki disease","Sclerosing cholangitis","Upper aerodigestive tract neoplasm"]	25	["Phagosome","Cell adhesion molecules","Antigen processing and presentation","Hematopoietic cell lineage","Th1 and Th2 cell differentiation","Th17 cell differentiation","Intestinal immune network for IgA production","Type I diabetes mellitus","Leishmaniasis","Toxoplasmosis","Staphylococcus aureus infection","Tuberculosis"]	8	["GWAS catalog (Bullous pemphigoid)","GWAS catalog (Celiac disease)","GWAS catalog (Interstitial cystitis)","GWAS catalog (Melanoma)","GWAS catalog (Lymphoma)","GWAS catalog (Kawasaki disease)","GWAS catalog (Sclerosing cholangitis)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
HLA-DOA	3	["Celiac disease","Interstitial cystitis","Sclerosing cholangitis"]	25	["Phagosome","Cell adhesion molecules","Antigen processing and presentation","Hematopoietic cell lineage","Th1 and Th2 cell differentiation","Th17 cell differentiation","Intestinal immune network for IgA production","Type I diabetes mellitus","Leishmaniasis","Toxoplasmosis","Staphylococcus aureus infection","Tuberculosis"]	3	["GWAS catalog (Celiac disease)","GWAS catalog (Interstitial cystitis)","GWAS catalog (Sclerosing cholangitis)"]
HLA-DMB	2	["Sarcoidosis","Upper aerodigestive tract neoplasm"]	25	["Phagosome","Cell adhesion molecules","Antigen processing and presentation","Hematopoietic cell lineage","Th1 and Th2 cell differentiation","Th17 cell differentiation","Intestinal immune network for IgA production","Type I diabetes mellitus","Leishmaniasis","Toxoplasmosis","Staphylococcus aureus infection","Tuberculosis"]	2	["GWAS catalog (Sarcoidosis)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
HLA-DMA	2	["Psoriatic arthritis","Sarcoidosis"]	24	["Phagosome","Cell adhesion molecules","Antigen processing and presentation","Hematopoietic cell lineage","Th1 and Th2 cell differentiation","Th17 cell differentiation","Intestinal immune network for IgA production","Type I diabetes mellitus","Leishmaniasis","Toxoplasmosis","Staphylococcus aureus infection","Tuberculosis"]	2	["GWAS catalog (Psoriatic arthritis)","GWAS catalog (Sarcoidosis)"]
HLA-DRA	6	["Bullous pemphigoid","Celiac disease","Interstitial cystitis","Sarcoidosis","Sclerosing cholangitis","Upper aerodigestive tract neoplasm"]	25	["Phagosome","Cell adhesion molecules","Antigen processing and presentation","Hematopoietic cell lineage","Th1 and Th2 cell differentiation","Th17 cell differentiation","Intestinal immune network for IgA production","Type I diabetes mellitus","Leishmaniasis","Toxoplasmosis","Staphylococcus aureus infection","Tuberculosis"]	6	["GWAS catalog (Bullous pemphigoid)","GWAS catalog (Celiac disease)","GWAS catalog (Interstitial cystitis)","GWAS catalog (Sarcoidosis)","GWAS catalog (Sclerosing cholangitis)","GWAS catalog (Upper aerodigestive tract neoplasm)"]

HLA-DOB (major histocompatibility complex, class II, DO beta)

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