Human Gene HLA-DQB1 (ENST00000434651.7_14) from GENCODE V47lift37
  Description: major histocompatibility complex, class II, DQ beta 1, transcript variant 1 (from RefSeq NM_002123.5)
Gencode Transcript: ENST00000434651.7_14
Gencode Gene: ENSG00000179344.17_16
Transcript (Including UTRs)
   Position: hg19 chr6:32,627,244-32,634,434 Size: 7,191 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr6:32,628,013-32,634,384 Size: 6,372 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:32,627,244-32,634,434)mRNA (may differ from genome)Protein (261 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q5Y7D6_HUMAN
DESCRIPTION: SubName: Full=HLA class II histocompatibility antigen, DQ beta 1 chain; SubName: Full=MHC class II antigen; SubName: Full=cDNA, FLJ79232, highly similar to HLA class II histocompatibility antigen, DQB1*0602 beta chain;
SIMILARITY: Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HLA-DQB1
Diseases sorted by gene-association score: celiac disease* (691), multiple sclerosis, disease progression, modifier of* (396), creutzfeldt-jakob disease* (389), narcolepsy* (34), bullous pemphigoid* (21), type ii mixed cryoglobulinemia (18), hypersomnia (18), lichen planopilaris (18), vulvovaginal gingival syndrome (18), achalasia, familial esophageal* (18), pediatric multiple sclerosis* (18), toxoplasmosis (14), dermatitis herpetiformis (14), recurrent respiratory papillomatosis (13), idiopathic hypersomnia (12), refractory celiac disease (12), focal epithelial hyperplasia (12), metal allergy (12), peanut allergy (11), influenza (11), cytomegalovirus retinitis (11), latex allergy (11), beryllium disease (10), autoimmune pancreatitis (10), whipple disease (10), panuveitis (10), pityriasis rosea (9), idiopathic achalasia (9), chronic beryllium disease (8), idiopathic inflammatory myopathy (8), acute disseminated encephalomyelitis (8), immunoglobulin alpha deficiency (8), kleine-levin hibernation syndrome (8), recurrent hypersomnia (8), idiopathic bronchiectasis (8), diabetes mellitus, insulin-dependent (8), vogt-koyanagi-harada disease (8), headache (8), lichen sclerosus (7), osteonecrosis of the jaw (7), geographic tongue (7), autoimmune hepatitis (7), congenital toxoplasmosis (7), myocarditis (7), sialadenitis (7), guillain-barre syndrome (6), acute chest syndrome (6), cervical dystonia (6), endometritis (6), microscopic colitis (6), oligoarticular juvenile idiopathic arthritis (5), arthritis (5), paraneoplastic pemphigus (5), cystic echinococcosis (5), ocular cicatricial pemphigoid (5), diabetes mellitus, insulin-dependent, 6 (5), chikungunya (5), pelvic inflammatory disease (5), severe hemophilia a (5), systemic lupus erythematosus (4), leishmaniasis (3), rheumatoid arthritis (3), asthma (2), dilated cardiomyopathy (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 85.16 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 354.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.0050-0.180 Picture PostScript Text
3' UTR -212.50769-0.276 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003006 - Ig/MHC_CS
IPR003597 - Ig_C1-set
IPR011162 - MHC_I/II-like_Ag-recog
IPR014745 - MHC_II_a/b_N
IPR000353 - MHC_II_b_N

Pfam Domains:
PF00969 - Class II histocompatibility antigen, beta domain
PF07654 - Immunoglobulin C1-set domain

SCOP Domains:
48726 - Immunoglobulin
54452 - MHC antigen-recognition domain

ModBase Predicted Comparative 3D Structure on Q5Y7D6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0002376 immune system process
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II
GO:0006955 immune response
GO:0019882 antigen processing and presentation

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042613 MHC class II protein complex


-  Descriptions from all associated GenBank mRNAs
  AF522251 - Homo sapiens MHC class II antigen (HLA-DQB1/DRB1) mRNA, complete cds.
AK097297 - Homo sapiens cDNA FLJ39978 fis, clone SPLEN2029380.
M57650 - Human MHC HLA-Dw12 DQ-beta chain mRNA, 3' end.
AB209580 - Homo sapiens mRNA for MHC class II antigen variant protein.
M16276 - Human MHC class II HLA-DR2-Dw12 mRNA DQw1-beta, complete cds.
AK296613 - Homo sapiens cDNA FLJ52646 complete cds, highly similar to HLA class II histocompatibility antigen, DQB1*0602 beta chain precursor.
M17563 - Human MHC class II DQ-beta associated with DR2, DQw1 protein, complete cds.
M57649 - Human MHC HLA-Dw12 DQ-beta chain mRNA, 3' end.
M17564 - Human MHC class II DQ-beta associated with DR1, DQw1 protein, complete cds.
M60028 - Human MHC class II HLA-DQ-beta (DQB1,DQw9), complete cds.
AK316333 - Homo sapiens cDNA, FLJ79232 complete cds, highly similar to HLA class II histocompatibility antigen, DQB1*0602 beta chain precursor.
X03068 - Human mRNA for HLA-D class II antigen DQw1.1 beta chain.
AK295695 - Homo sapiens cDNA FLJ57489 complete cds, highly similar to HLA class II histocompatibility antigen,DQB1*0602 beta chain precursor.
M17565 - Human MHC class II DQ-beta associated with DRw6, DQw1 protein, complete cds.
X00369 - Human mRNA for HLA-DC classII histocompatibility antigen beta-chain.
JD392728 - Sequence 373752 from Patent EP1572962.
M20432 - Human MHC class II HLA-DQ-beta (DR2-DQw1/DR4 DQw3) mRNA, complete cds, clone ROF2D.
BC128595 - Homo sapiens major histocompatibility complex, class II, DQ beta 1, mRNA (cDNA clone IMAGE:40127514), partial cds.
L34104 - Human (clone 26) MHC class II HLA-DQB1*06011 mRNA, 3' end.
L40181 - Homo sapiens (clone D2B E418-3) MHC class II HLA-DQB1*06011 mRNA, 3' end, exons 1-6.
L34101 - Human (clone 3-19) MHC class II HLA-DQB1*0501 mRNA, 3' end.
L34102 - Human (clone 1-33-4) MHC class II HLA-DQB1*0502 mRNA, 3' end.
L34103 - Human (clone 2-4, 2-5) MHC class II HLA-DQB1*05031 mRNA, 3' end.
L34105 - Human (clone 1) MHC class II HLA-DQB1*0602 mRNA, 3' end.
L34106 - Human (clone 32) MHC class II HLA-DQB1*0603 mRNA, 3' end.
L34107 - Human (clone 1-53) MHC class II HLA-DQB1*0604 mRNA, 3' end.
L40180 - Homo sapiens (clone D2B EK5.4,5-6) MHC class II HLA-DQB1*05031 mRNA, 3' end, exons 1-6.
L42626 - Homo sapiens MHC class II HLA-DQB1*0609 mRNA, partial cds.
AY656681 - Homo sapiens MHC class II antigen (HLA-DQB1) mRNA, HLA-DQB1*050201 allele, complete cds.
X96420 - H.sapiens mRNA for HLA-DQ beta chain.
L34097 - Human (clone 36) MHC class II HLA-DQB1*0302 mRNA, 3' end.
L34098 - Human (clones 2, 3) MHC class II HLA-DQB1*03032 mRNA, 3' end.
U66400 - Human MHC Class II HLA-DQB1*0301 variant (HLA-DQ) mRNA, partial cds.
AF000447 - Homo sapiens MHC class II HLA-DQB1 mRNA (HLA-DQB1-06Var allele), partial cds.
AF291674 - Homo sapiens MHC class II antigen (HLA-DQB1) mRNA, HLA-DQB1*05 allele, complete cds.
M16996 - Human MHC class II HLA-DQ-beta (DQw3), complete cds.
U83585 - Homo sapiens MHC class II antigen HLA-DQ mRNA (HLA-DQB1*06 allele), partial cds.
AK295476 - Homo sapiens cDNA FLJ59895 complete cds, highly similar to HLA class II histocompatibility antigen, DQB1*0602 beta chain precursor.
M35730 - Human MHC class II DQ3.1ER (DR4) mRNA, partial cds.
M35731 - Human MHC class II DQ3.1LUY (DR8) mRNA, partial cds.
AH002890 - Homo sapiens MHC HLA-DR-beta-1 chain (HLA-DRB1) mRNA, partial cds.
AF113250 - Homo sapiens MHC class II antigen HLA-DQB1 gene (HLA-DQB1*0604 variant allele) mRNA, partial cds.
U63321 - Human MHC class II antigen (HLA-DQB1) mRNA, allele HLA-DQB1*0604v, partial cds.
M59800 - Human MHC class II DQB1 mRNA (DQw1(w6)), partial cds.
M59801 - Human MHC class II DQB1*0603 mRNA (DQw1(w6)), partial cds.
KC879155 - Homo sapiens MHC class II antigen (HLA-DQB1) mRNA, partial cds.
M22550 - Human MHC class II HLA-DQ beta mRNA (DR3,DQw), partial cds, clone 2041C72.
M25327 - Homo sapiens MHC HLA-DBQ3 allele DQw3.3 mRNA, 5' end.
M17207 - Human MHC class II DQ-beta chain (Dw2) mRNA, partial cds, from cell line PGF.
M35982 - Human MHC class II HLA-DC-beta chain mRNA, 5' end.
MN167838 - Homo sapiens isolate 18450_IMGT MHC class II antigen (HLA-DQB1) mRNA, HLA-DQB1*05:new allele, complete cds.
MN310558 - Homo sapiens isolate 13977_IMGT MHC class II antigen (HLA-DQB1) mRNA, HLA-DQB1*06:09:new allele, complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000434651.1, ENST00000434651.2, ENST00000434651.3, ENST00000434651.4, ENST00000434651.5, ENST00000434651.6, HLA-DQB1 , NM_002123, Q5Y7D6, Q5Y7D6_HUMAN, uc320ddr.1, uc320ddr.2
UCSC ID: ENST00000434651.7_14
RefSeq Accession: NM_002123.5
Protein: Q5Y7D6

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HLA-DQB1:
celiac (Celiac Disease)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.