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

Gene

• Entrez ID: 3112
• Gene name: Major histocompatibility complex, class II, DO beta
• Gene symbol: HLA-DOB
• Synonyms (NCBI Gene): DOB, HLA_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

miRNA

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

Transcription factors

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

Gene ontology (GO)

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

Other IDs

• MIM: 600629
• HGNC: 4937
• e!Ensembl: ENSG00000241106

Protein

• UniProt ID: 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

Pathways

KEGG:

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
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

Reactome:

MHC class II antigen presentation

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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	BEFREE	25101798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	25101798, 34193364	Associate	★★☆☆☆ 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