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

Identity

Other namesCELIAC1
HLA-DQB
IDDM1
HGNC (Hugo) HLA-DQB1
LocusID (NCBI) 3119
Atlas_Id 43867
Location 6p21.32
Location_base_pair Starts at 32627241 and ends at 32634466 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HLA-DQB1 (6p21.32) / CORO1C (12q24.11)HLA-DQB1 (6p21.32) / PABPC1 (8q22.3)HLA-DQB1 (6p21.32) / PSD4 (2q13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HLA-DQB1   4944
Cards
Entrez_Gene (NCBI)HLA-DQB1  3119  major histocompatibility complex, class II, DQ beta 1
AliasesCELIAC1; HLA-DQB; IDDM1
GeneCards (Weizmann)HLA-DQB1
Ensembl hg19 (Hinxton)ENSG00000179344 [Gene_View]  chr6:32627241-32634466 [Contig_View]  HLA-DQB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000179344 [Gene_View]  chr6:32627241-32634466 [Contig_View]  HLA-DQB1 [Vega]
ICGC DataPortalENSG00000179344
TCGA cBioPortalHLA-DQB1
AceView (NCBI)HLA-DQB1
Genatlas (Paris)HLA-DQB1
WikiGenes3119
SOURCE (Princeton)HLA-DQB1
Genomic and cartography
GoldenPath hg19 (UCSC)HLA-DQB1  -     chr6:32627241-32634466 -  6p21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HLA-DQB1  -     6p21.32   [Description]    (hg38-Dec_2013)
EnsemblHLA-DQB1 - 6p21.32 [CytoView hg19]  HLA-DQB1 - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBIHLA-DQB1 [Mapview hg19]  HLA-DQB1 [Mapview hg38]
OMIM123400   126200   212750   604305   
Gene and transcription
Genbank (Entrez)AB209580 AB209638 AF000447 AF113250 AF195245
RefSeq transcript (Entrez)NM_001243961 NM_001243962 NM_002123
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_029922 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249 NW_004929326
Consensus coding sequences : CCDS (NCBI)HLA-DQB1
Cluster EST : UnigeneHs.534322 [ NCBI ]
CGAP (NCI)Hs.534322
Alternative Splicing GalleryENSG00000179344
Gene ExpressionHLA-DQB1 [ NCBI-GEO ]   HLA-DQB1 [ EBI - ARRAY_EXPRESS ]   HLA-DQB1 [ SEEK ]   HLA-DQB1 [ MEM ]
Gene Expression Viewer (FireBrowse)HLA-DQB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3119
GTEX Portal (Tissue expression)HLA-DQB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01920 (Uniprot)
NextProtP01920  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01920
Splice isoforms : SwissVarP01920 (Swissvar)
PhosPhoSitePlusP01920
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    MHC_I/II-like_Ag-recog    MHC_II_a/b_N    MHC_II_b_N   
Domain families : Pfam (Sanger)C1-set (PF07654)    MHC_II_beta (PF00969)   
Domain families : Pfam (NCBI)pfam07654    pfam00969   
Domain families : Smart (EMBL)IGc1 (SM00407)  MHC_II_beta (SM00921)  
Domain structure : Prodom (Prabi Lyon)MHC_II_b_N (PD000328)   
DMDM Disease mutations3119
Blocks (Seattle)HLA-DQB1
PDB (SRS)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
PDB (PDBSum)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
PDB (IMB)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
PDB (RSDB)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
Structural Biology KnowledgeBase1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
SCOP (Structural Classification of Proteins)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
CATH (Classification of proteins structures)1JK8    1NBN    1S9V    1UVQ    2NNA    4GG6    4OZF    4OZG    4OZH    4OZI   
SuperfamilyP01920
Human Protein AtlasENSG00000179344
Peptide AtlasP01920
HPRD05054
IPIIPI00892984   IPI00893098   IPI00940526   IPI00893809   IPI00893664   IPI00973126   
Protein Interaction databases
DIP (DOE-UCLA)P01920
IntAct (EBI)P01920
FunCoupENSG00000179344
BioGRIDHLA-DQB1
STRING (EMBL)HLA-DQB1
ZODIACHLA-DQB1
Ontologies - Pathways
QuickGOP01920
Ontology : AmiGOGolgi membrane  immunoglobulin production involved in immunoglobulin mediated immune response  humoral immune response mediated by circulating immunoglobulin  lysosomal membrane  plasma membrane  immune response  endosome membrane  ER to Golgi transport vesicle membrane  membrane  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  transport vesicle membrane  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  T cell costimulation  MHC class II receptor activity  trans-Golgi network membrane  peptide antigen binding  MHC class II protein complex  T cell receptor signaling pathway  interferon-gamma-mediated signaling pathway  integral component of lumenal side of endoplasmic reticulum membrane  
Ontology : EGO-EBIGolgi membrane  immunoglobulin production involved in immunoglobulin mediated immune response  humoral immune response mediated by circulating immunoglobulin  lysosomal membrane  plasma membrane  immune response  endosome membrane  ER to Golgi transport vesicle membrane  membrane  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  transport vesicle membrane  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  T cell costimulation  MHC class II receptor activity  trans-Golgi network membrane  peptide antigen binding  MHC class II protein complex  T cell receptor signaling pathway  interferon-gamma-mediated signaling pathway  integral component of lumenal side of endoplasmic reticulum membrane  
Pathways : KEGGPhagosome    Cell adhesion molecules (CAMs)    Antigen processing and presentation    Intestinal immune network for IgA production    Type I diabetes mellitus    Leishmaniasis    Toxoplasmosis    Staphylococcus aureus infection    Tuberculosis    Influenza A    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Asthma    Autoimmune thyroid disease    Inflammatory bowel disease (IBD)    Systemic lupus erythematosus    Rheumatoid arthritis    Allograft rejection    Graft-versus-host disease    Viral myocarditis   
NDEx Network
Atlas of Cancer Signalling NetworkHLA-DQB1
Wikipedia pathwaysHLA-DQB1
Orthology - Evolution
OrthoDB3119
GeneTree (enSembl)ENSG00000179344
Phylogenetic Trees/Animal Genes : TreeFamHLA-DQB1
Homologs : HomoloGeneHLA-DQB1
Homology/Alignments : Family Browser (UCSC)HLA-DQB1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerHLA-DQB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLA-DQB1
dbVarHLA-DQB1
ClinVarHLA-DQB1
1000_GenomesHLA-DQB1 
Exome Variant ServerHLA-DQB1
ExAC (Exome Aggregation Consortium)HLA-DQB1 (select the gene name)
Genetic variants : HAPMAP3119
Genomic Variants (DGV)HLA-DQB1 [DGVbeta]
Mutations
ICGC Data PortalHLA-DQB1 
TCGA Data PortalHLA-DQB1 
Broad Tumor PortalHLA-DQB1
OASIS PortalHLA-DQB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHLA-DQB1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HLA-DQB1
DgiDB (Drug Gene Interaction Database)HLA-DQB1
DoCM (Curated mutations)HLA-DQB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HLA-DQB1 (select a term)
intoGenHLA-DQB1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:32627241-32634466  ENSG00000179344
CONAN: Copy Number AnalysisHLA-DQB1 
Mutations and Diseases : HGMDHLA-DQB1
OMIM123400    126200    212750    604305   
MedgenHLA-DQB1
Genetic Testing Registry HLA-DQB1
NextProtP01920 [Medical]
TSGene3119
GENETestsHLA-DQB1
Huge Navigator HLA-DQB1 [HugePedia]
snp3D : Map Gene to Disease3119
BioCentury BCIQHLA-DQB1
ClinGenHLA-DQB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3119
Chemical/Pharm GKB GenePA35068
Clinical trialHLA-DQB1
Miscellaneous
canSAR (ICR)HLA-DQB1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHLA-DQB1
EVEXHLA-DQB1
GoPubMedHLA-DQB1
iHOPHLA-DQB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:05:32 CEST 2016

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