HLA-DQB1 Gene
protein-coding GIFtS: 63
GCID: GC06M032629
|
|
major histocompatibility complex, class II, DQ beta 1
(Previous symbol: HLA-DQB)
| |
Aliases
for HLA-DQB1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Major Histocompatibility Complex, Class II, DQ Beta 11 2 | | Lymphocyte Antigen2 | | HLA-DQB1 2 3 | | MHC Class II Antigen HLA-DQ-Beta-12 | | CELIAC11 2 5 | | MHC Class II DQ Beta Chain2 | | IDDM11 2 | | MHC Class II HLA-DQ Beta Glycoprotein2 | | MHC Class II Antigen DQB12 3 | | MHC Class2 Antigen2 | | HLA Class II Histocompatibility Antigen, DQ Beta 1 Chain2 | | MHC DQ Beta2 |
Export aliases for HLA-DQB1 gene to outside databasesPrevious GC identifers: GC06U990046 GC06M032623 GC06M032398 GC06M032675 GC06M032678 GC06M032727 GC06M032735 |
Summaries
for HLA-DQB1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HLA-DQB1:
HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of analpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system bypresenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells(APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains sixexons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes thetransmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the betachain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four differentmolecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicingresults in multiple transcript variants. (provided by RefSeq, Sep 2011)
UniProtKB/Swiss-Prot: DQB1_HUMAN, P01920Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) andpresents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptidesof 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteinsthat access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenousantigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, andfor this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on theirway to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomalcompartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also asource of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In additionto APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents anantigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in theER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigenprocessing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving asmall fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DMvia direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II moleculesuntil primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transportedto the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated byHLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in theregulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis andefficient peptide loading
Gene Wiki entry for HLA-DQB1
|
Genomic Views
for HLA-DQB1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167245.1 NT_167246.1 NT_167247.1 NT_167248.1
- NT_167249.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HLA-DQB1 gene promoter:
HOXA9 c-Fos AML1a AP-1 XBP-1 HNF-4alpha2 HNF-4alpha1 PPAR-alpha c-Jun Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for HLA-DQB1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-DQB1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.32 HGNC cytogenetic band: 6p21.3HLA-DQB1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M032629: view genomic region
(about GC identifiers)
Start:
|
32,627,244 bp from pter |
End:
|
32,636,160 bp from pter |
Size:
|
8,917 bases |
Orientation:
|
minus strand |
|
Proteins
for HLA-DQB1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DQB1_HUMAN, P01920 (See
protein sequence)Recommended Name: HLA class II histocompatibility antigen, DQ beta 1 chain precursor Size: 261 amino acids; 29991 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHCclass II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches thecell membrane for antigen presentation
Sequence caution: Sequence=AAC64403.2; Type=Erroneous gene model prediction; Sequence=CAJ57391.1; Type=Erroneous genemodel prediction;
6 PDB 3D structures from  and Proteopedia  for HLA-DQB1:1JK8 (3D)
1NBN (3D)
1S9V (3D)
1UVQ (3D)
2NNA (3D)
4GG6 (3D)
Secondary accessions: A1KR27 A2RPH3 A4Q9R4 A4USG2 A4USG5 A6N8I7 A9YQA0 B0S7Y7 B1A0K6 B1GXI3 B3VLT3B5BLN7 B7VU69 C0MQ34 C0MQ35 C8ZL52 C8ZLJ8 C8ZLJ9 C9DRQ3 O19708 O19713 O19724 O62861 O78046 O78221O78223 O98034 O98201 P01917 P01918 P01919 P03992 P05537 P79482 P79526 P79544 P79551 Q08GC8 Q09035Q0E4V9 Q1M312 Q29731 Q29877 Q29884 Q29915 Q29966 Q2P9N3 Q2QK85 Q30061 Q30075 Q30076 Q30080 Q30081Q30082 Q30083 Q30084 Q30089 Q30095 Q31633 Q38I47 Q45UE3 Q4QZB5 Q53I44 Q564J6 Q5G841 Q5ISH1 Q5ISH3Q5W1E1 Q5Y7G8 Q643R4 Q6B9X1 Q70VH8 Q7YP69 Q8HWH0 Q8MH58 Q8SNB4 Q8SND1 Q8SP70 Q8WMA3 Q9BD17 Q9MYH2Q9TPA9 Q9XRY6 Q9XRY7 Q9XRZ2Explore the universe of human proteins at neXtProt for HLA-DQB1: NX_P01920
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P01920
HLA-DQB1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001230890.1 NP_001230891.1 NP_002114.3
ENSEMBL proteins: ENSP00000382032 ENSP00000382029 ENSP00000364080 ENSP00000407332 ENSP00000382034 ENSP00000436686 ENSP00000409070 Reactome Protein details: P01920
Human Recombinant Protein Products:
Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table
HLA-DQB1 for ontologies About GeneDecksing
HLA-DQB1 Antibody Products:
Assay Products for HLA-DQB1: |
Protein
Domains /
Families
for HLA-DQB1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HLA-DQB1 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P01920ProtoNet protein and cluster: P01920 2 Blocks protein families: IPB000353 Class II histocompatibility antigen IPB003597 Immunoglobulin C-type
UniProtKB/Swiss-Prot: DQB1_HUMAN, P01920Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain |
Function
for HLA-DQB1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DQB1_HUMAN, P01920Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) andpresents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptidesof 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteinsthat access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenousantigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, andfor this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on theirway to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomalcompartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also asource of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In additionto APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents anantigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in theER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigenprocessing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving asmall fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DMvia direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II moleculesuntil primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transportedto the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated byHLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in theregulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis andefficient peptide loading Genatlas biochemistry entry for HLA-DQB1:HLA-DQ,beta chain
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DQB1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DQB1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HLA-DQB1 (NM_002123) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HLA-DQB1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-DQB1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQB1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0032395 | MHC class II receptor activity |
NAS | 2998758 |
HLA-DQB1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for HLA-DQB1:
Animal Models:
Mouse knock-outs for HLA-DQB1: H2-Ab1H2-tm1Doi H2-Ab1H2-tm1.1Koni H2-Ab1H2-tm1Gru
15/17 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for H2-Ab1) (see all 17):
HLA-DQB1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for HLA-DQB1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/28 super-pathways (see all 28) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Allograft rejection | | | 2 | Transport of MHC II:Ii complex along Golgi to TGN | | | 3 | Translocation of ZAP-70 to Immunological synapse | | | 4 | ICos-ICosL Pathway in T-Helper Cell | | | 5 | PKC-Theta Pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 EMD Millipore Pathways for HLA-DQB1 (see all 6)
5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HLA-DQB1 (see all 12)
5/6  GeneGo (Thomson Reuters) Pathways for HLA-DQB1 (see all 6)
5/20 
Reactome Pathways for HLA-DQB1 (see all 20)
5/17 
Kegg Pathways (Kegg details for HLA-DQB1) (see all 17):
HLA-DQB1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HLA-DQB1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/53 Interacting proteins for HLA-DQB1 (P019202, 3 ENSP000003820344) via UniProtKB, MINT, STRING, and/or I2D (see all 53)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0002381 | immunoglobulin production involved in immunoglobulin mediated immune response |
IDA | 17050030 | | GO:0002455 | humoral immune response mediated by circulating immunoglobulin |
IDA | 17050030 | | GO:0002504 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II |
-- | -- | | GO:0006955 | immune response |
NAS | 2998758 | | GO:0019221 | cytokine-mediated signaling pathway |
TAS | -- |
HLA-DQB1 for ontologies About GeneDecksing
|
Drugs & Compounds
for HLA-DQB1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HLA-DQB1 for compounds About GeneDecksing
 Browse Tocris compounds for HLA-DQB1
1 DrugBank Compound for HLA-DQB1 About this table
10/11 Novoseek chemical compound relationships for HLA-DQB1 gene (see all 11) About this table
2 PharmGKB related drug/compound annotations for HLA-DQB1 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about HLA-DQB1 / DQB1
|
Transcripts
for HLA-DQB1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HLA-DQB1 gene (3 alternative transcripts): NM_001243961.1 NM_001243962.1 NM_002123.4 Unigene Cluster for HLA-DQB1: Major histocompatibility complex, class II, DQ beta 1 Hs.409934 [show with all ESTs]Unigene Representative Sequence: AB20963810 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000487676(uc011dqe.2) ENST00000399082 ENST00000399079 ENST00000374943(uc021yvz.1)
ENST00000434651(uc010juc.2 uc003obw.3 uc011dqd.2) ENST00000399084
ENST00000460185 ENST00000484729 ENST00000529407 ENST00000447884
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DQB1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DQB1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HLA-DQB1 (NM_002123) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HLA-DQB1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-DQB1 |
Additional cDNA sequence: AB209638.1 AF000447.1 AF113250.1 AF195245.1 AF291674.1 AK097297.1 AK295255.1 AK295476.1 AK295695.1 AK296060.1 AK296613.1 AK304543.1 AK316333.1 AY656681.1 AY656682.1 AY656683.1 BC012106.1 BC128594.1 BC128595.1 BC150555.1 BC150556.1 DQ136036.1 J00198.1 L34095.1 L34096.1 L34097.1 L34098.1 L34099.1 L34100.1 L34101.1 L34102.1 L34103.1 L34104.1 L34105.1 L34106.1 L34107.1 L40179.1 L40180.1 L40181.1 L42626.1 M13279.1 M14189.1 M16276.1 M16996.1 M17204.1 M17206.1 M17207.1 M17563.1 M17564.1 M17565.1 M17955.1 M19239.1 M20432.1 M20505.1 M21135.1 M22549.1 M22550.1 M24364.1 M25325.1 M25326.1 M25327.1 M25328.1 M26042.1 M32577.1 M33907.1 M35730.1 M35731.1 M35982.1 M57650.1 M59800.1 M59801.1 M60028.1 M81140.1 M81141.1 M83770.1 U63321.1 U66400.1 U83582.1 U83585.1 V00529.1 X00369.1 X03068.1 X76553.1 X76554.1 X96420.1 24/34 DOTS entries (see all 34): DT.87078313 DT.121314811 DT.92443956 DT.92404855 DT.40250885 DT.87078525 DT.121314743 DT.100745675 DT.100824965 DT.121314570 DT.70102156 DT.121314703 DT.121314508 DT.121314679 DT.121314712 DT.92443957 DT.121314517 DT.85104317 DT.121314784 DT.121632200 DT.75148240 DT.95224644 DT.121314594 DT.121314800 24/111 AceView cDNA sequences (see all 111): CB241087 L34105 BQ012862 M17207 BE501332 M25327 BM008135 R19164 M22550 AI597836 BU147009 BU626464 T29121 M59801 CB112679 BI909533 BV199944 R01628 BQ706217 BI907138 AW515688 BU688105 BM549633 L34106
GeneLoc Exon Structure
|
Expression
for HLA-DQB1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HLA-DQB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCCTGAGTT
About this image
See HLA-DQB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HLA-DQB1
SOURCE GeneReport for Unigene cluster: Hs.409934
SABiosciences Custom PCR Arrays for HLA-DQB1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLA-DQB1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat HLA-DQB1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLA-DQB1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-DQB1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQB1 |
Orthologs
for HLA-DQB1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for HLA-DQB1 gene from 2/9 species (see all 9) About this table
ENSEMBL Gene Tree for HLA-DQB1 (if available)
TreeFam Gene Tree for HLA-DQB1 (if available) |
Paralogs
for HLA-DQB1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for HLA-DQB1 gene
- HLA-DRB52 HLA-DQA12 HLA-DPA12 HLA-DRA2 HLA-DOB2 HLA-DRB12 HLA-DMA2 HLA-DQB22
- HLA-DOA2 ENSG000002489932 HLA-DMB2 HLA-DQA22 HLA-DPB12
18/120 SIMAP similar genes for HLA-DQB1 using alignment to 524 protein entries: DQB1_HUMAN (see all proteins)
(see all similar genes):HLQ-DQB1 HLA-DQB HLA-DQ3 HLA-DQB1*06x HLA DQB1 DQB1*0603
HLA-DQB1*06new1 HLA-DQ HLA-DQB1*03 DQB1 HLA-DQB3 DQB1.SLE
HLA-DQ-beta HLA-DQB1*05 HLA-Dw12 HLA-DQB1/DRB1 HLA-DQB2 HLA DRB4
HLA-DQB1 for paralogs About GeneDecksing
|
Genomic Variants
for HLA-DQB1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: DQB1_HUMAN, P01920Polymorphism: The following alleles of HLA-DQB1 are known: DQB1*02:01, DQB1*02:02, DQB1*02:03, DQB1*02:04, DQB1*02:05,DQB1*03:01, DQB1*03:02, DQB1*03:03, DQB1*03:04, DQB1*03:05, DQB1*03:06, DQB1*03:07, DQB1*03:08, DQB1*03:09,DQB1*03:10, DQB1*03:11, DQB1*03:12, DQB1*03:13, DQB1*03:14, DQB1*03:15, DQB1*03:16, DQB1*03:17, DQB1*03:18,DQB1*03:19, DQB1*03:20, DQB1*03:21, DQB1*03:22, DQB1*03:23, DQB1*03:24, DQB1*03:25, DQB1*03:26, DQB1*04:01,DQB1*04:02, DQB1*04:03, DQB1*05:01, DQB1*05:02, DQB1*05:03, DQB1*05:04, DQB1*05:05, DQB1*06:01, DQB1*06:02,DQB1*06:03, DQB1*06:04, DQB1*06:05, DQB1*06:06, DQB1*06:07, DQB1*06:08, DQB1*06:09, DQB1*06:10, DQB1*06:11,DQB1*06:12, DQB1*06:13, DQB1*06:14, DQB1*06:15, DQB1*06:16, DQB1*06:17, DQB1*06:18, DQB1*06:19, DQB1*06:20,DQB1*06:21, DQB1*06:22, DQB1*06:23, DQB1*06:24, DQB1*06:25, DQB1*06:27, DQB1*06:28, DQB1*06:29, DQB1*06:30,DQB1*06:31, DQB1*06:32, DQB1*06:33, DQB1*06:34, DQB1*06:35, DQB1*06:36, DQB1*06:37, DQB1*06:38, and DQB1*06:39. Thesequence shown is that of DQB1*03:01Polymorphism: DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. Aminority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02)Polymorphism: DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D)and strong susceptibility to narcolepsy. DQB1*06:02 has been found to be present in most of the narcolepsy patients.As well 98% of the patients with an HCRT deficiency are positive for DQB1*06:02
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HLA-DQB1 (32627244 - 32636160 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 28 variations for HLA-DQB1
15/28 CNVs (see all 28): 69437 7567 93638 93650 69423 53381 69418 81339 4767 93641 69435 69463 64476 81349 93643
Human Gene Mutation Database (HGMD): HLA-DQB1
Locus Specific Mutation Databases (LSDB): HLA-DQB1
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for HLA-DQB1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
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HLA-DQB1 for disorders About GeneDecksing
OMIM gene information: 604305
OMIM disorders: 123400 126200 212750
20/274  diseases for HLA-DQB1 (see all 274): About MalaCardscreutzfeldt-jakob disease, variant, resistance to vogt-koyanagi-harada disease lambert-eaton myasthenic syndrome pure red-cell aplasia
relapsing-remitting multiple sclerosis paroxysmal nocturnal hemoglobinuria stevens-johnson syndrome pre-eclampsia
diffuse large b-cell lymphoma guillain-barre syndrome ocular cicatricial pemphigoid cicatricial pemphigoid
hypersensitivity reaction type ii disease thrombotic thrombocytopenic purpura severe pre-eclampsia tropical spastic paraparesis
pityriasis rosea maturity-onset diabetes of the young age related macular degeneration inclusion body myositis
2 diseases from the University of Copenhagen DISEASES database for HLA-DQB1:Diabetes mellitus Hypersensitivity reaction type II disease 10/34 Novoseek disease relationships for HLA-DQB1 gene (see all 34) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| diabetes mellitus insulin-dependent |
72.4 |
23 |
9820603 (2), 8929711 (2), 15336779 (1), 1728861 (1) (see all 20) |
| genetic susceptibility |
69.3 |
12 |
15256073 (1), 17126830 (1), 18552411 (1), 10053014 (1) (see all 10) |
| autoimmune diseases |
51.9 |
2 |
1520483 (1), 7608264 (1) |
| autoimmunity |
48.5 |
1 |
11240447 (1) |
| autoimmune response |
43.5 |
2 |
7690776 (2) |
| celiac disease |
41.2 |
3 |
1919044 (2), 11929591 (1) |
| iga deficiency |
37.6 |
2 |
1438261 (1), 1520483 (1) |
| lupus erythematosus systemic |
37.4 |
4 |
7903231 (2), 2022497 (1), 18295738 (1) |
| dermatitis herpetiformis |
35.8 |
3 |
1919044 (3) |
| multiple sclerosis |
33.9 |
2 |
2001977 (1), 8442703 (1) |
GeneTests: HLA-DQB1
Celiac Disease
Genetic Association Database (GAD): HLA-DQB1
Human Genome Epidemiology (HuGE) Navigator: HLA-DQB1 (1104 documents)
Export disorders for HLA-DQB1 gene to outside databases
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Publications
for HLA-DQB1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for HLA-DQB1 gene, integrated from 9 sources (see all 1435):
(articles sorted by number of sources associating them with HLA-DQB1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Different contribution of HLA-DR and -DQ genes in susceptibility and resistance to insulin-dependent diabetes mellitus (IDDM). (PubMed id 8929711)1, 2, 9 Yasunaga S.... Sasazuki T. (1996)
- HLA-DRB1 and HLA-DQB1 polymorphisms in Pacific Islands populations. (PubMed id 12144623)1, 4, 9 Velickovic Z.M....Carter J.M. (2002)
- Association of HLA-DRB1, DQB1 alleles with chronic urticaria. (PubMed id 16201295)1, 4, 9 Chen J....Xiong P. (2005)
- HLA-DR and DQ polymorphisms in bullous pemphigoid from northern China. (PubMed id 12139680)1, 4, 9 Gao X.H....Wojnarowska F. (2002)
- [Analysis of HLA-DQB1 polymorphism by PCR-SSO in Yichu of Yunnan Province] (PubMed id 11233253)1, 4, 9 Chen W.M....Xu A.L. (2001)
- [HLA DQB1 genotyping in latent autoimmune diabetes of adults (LADA)] (PubMed id 16042135)1, 4, 9 Caputo M....Frechtel G.D. (2005)
- [Relationship between HLA-DQA1, -DQB1 genes polymorphism and susceptilibity to bronchial asthma among Northern Hans] (PubMed id 11953202)1, 4, 9 Gao J....Liu Y. (2002)
- The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence. (PubMed id 11929591)1, 4, 9 Catassi C....Cucca F. (2001)
- Immune related genetic polymorphisms and schizophrenia among the Chinese. (PubMed id 11423178)1, 4, 9 Chowdari K.V....Nimgaonkar V.L. (2001)
- MHC class II, tumour necrosis factor alpha, and lymphotoxin alpha gene haplotype associations with serological subsets of systemic lupus erythematosus. (PubMed id 16107511)1, 4, 9 McHugh N.J....Welsh K. (2006)
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External Searches for HLA-DQB1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing HLA-DQB1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing HLA-DQB1 gene
(According to HUGE)
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Specialized Databases showing HLA-DQB1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for HLA-DQB1 | Pharmacogenomics, SNPs, Pathways | | SHMPD | http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HLA-DQB1 | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HLA-DQB1 |
|
| | |
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| Patent Information for HLA-DQB1 gene:
Search GeneIP for patents involving HLA-DQB1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for HLA-DQB1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for HLA-DQB1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HLA-DQB1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLA-DQB1 | | | OriGene Protein Over-expression Lysate for HLA-DQB1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HLA-DQB1 | | OriGene 3'-UTR Clone for HLA-DQB1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DQB1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DQB1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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