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Gene Gene information from NCBI Gene database.
Entrez ID 3111
Gene name Major histocompatibility complex, class II, DO alpha
Gene symbol HLA-DOA
Synonyms (NCBI Gene)
HLA-DNAHLA-DZAHLADZ
Chromosome 6
Chromosome location 6p21.32
Summary HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with cla
miRNA miRNA information provided by mirtarbase database.
319 Show/Hide all (319)
miRTarBase ID miRNA Experiments Reference
MIRT491507 hsa-miR-6732-5p PAR-CLIP 23592263
MIRT491505 hsa-miR-3928-3p PAR-CLIP 23592263
MIRT491503 hsa-miR-3184-5p PAR-CLIP 23592263
MIRT491504 hsa-miR-423-5p PAR-CLIP 23592263
MIRT491502 hsa-miR-1914-3p PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
CIITA Activation 11823510
RFX5 Unknown 11258423
RFXANK Unknown 11258423
RFXAP Unknown 11258423
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30 Show/Hide all (30)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142930 4936 ENSG00000204252
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P06340
Protein name HLA class II histocompatibility antigen, DO alpha chain (MHC DN-alpha) (MHC DZ alpha) (MHC class II antigen DOA)
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
PF00993 MHC_II_alpha 29 → 109 Class II histocompatibility antigen, alpha domain Domain
PF07654 C1-set 115 → 196 Immunoglobulin C1-set domain Domain
Sequence
Sequence length 250
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
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 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 (32)
Phenotype Name Clinical Significance Source Reference Evidence Score
ASTHMA — GWAS catalog 21804548, 31619474, 31669095
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA, OCCUPATIONAL — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA — GWAS catalog 31669095
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 28540026
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE — GWAS catalog 32534018
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (104)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Addison Disease Addison`s Disease BEFREE 15240634, 9398726
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 27210825
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 31580408
★★★★★
★☆☆☆☆
Found in Text Mining only
Alloimmunisation Alloimmunisation BEFREE 28705838
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 2902225
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 12917841
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 27600773
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 12114354
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 21716163
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis BEFREE 12873588, 23551963, 31298041
★★★★★
★☆☆☆☆
Found in Text Mining only