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

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3119
Gene name Major histocompatibility complex, class II, DQ beta 1
Gene symbol HLA-DQB1
Synonyms (NCBI Gene)
CELIAC1HLA-DQBIDDM1
Chromosome 6
Chromosome location 6p21.32
Summary HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides deriv
miRNA miRNA information provided by mirtarbase database.
31
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1048415 hsa-miR-1183 CLIP-seq
MIRT1048416 hsa-miR-3117-3p CLIP-seq
MIRT1048417 hsa-miR-3169 CLIP-seq
MIRT1048418 hsa-miR-3170 CLIP-seq
MIRT1048419 hsa-miR-3189-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CIITA Unknown 11332992
CREB1 Unknown 1324879
DEK Unknown 12823858
RFX5 Unknown 11258423;18723135
RFXANK Unknown 11258423
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604305 4944 ENSG00000179344
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01920
Protein name HLA class II histocompatibility antigen, DQ beta 1 chain (MHC class II antigen DQB1)
Protein function Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. T
PDB 1JK8 , 1S9V , 1UVQ , 2NNA , 4GG6 , 4OZF , 4OZG , 4OZH , 4OZI , 8VSP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00969 MHC_II_beta 45 → 118 Class II histocompatibility antigen, beta domain Domain
PF07654 C1-set 131 → 212 Immunoglobulin C1-set domain Domain
Sequence 
MSWKKALRIPGGLRAATVTLMLAMLSTPVAEGRDSPEDFVYQFKAMCYFTNGTERVRYVT
RYIYNREEYARFDSDVEVYRAVTPLGPPDAEYWNSQKEVLERTRAELDTVCRHNYQLELR
TTLQRRVEPTVTISPSRTEALNHHNLLVCSVTDFYPAQIKVRWFRNDQEETTGVVSTPLI
RNGDWTFQILVMLEMTPQHGDVYTCHVEHPSLQNPITVEWRAQSESAQSKMLSGIGGFVL
GLIFLGLGLIIHHRSQKGLLH
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  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 		  Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
MHC class II antigen presentation
PD-1 signaling
Interferon gamma signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (204)
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.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations