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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HLA-DQB2 Gene

protein-coding   GIFtS: 51
GCID: GC06M032728

Major Histocompatibility Complex, Class II, DQ Beta 2


(Previous symbol: HLA-DXB)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Major Histocompatibility Complex, Class II, DQ Beta 21 2     HLA-DQB12
HLA-DXB1 2 3     DV19.1 (Major Histocompatibility Complex, Class II, DQ Beta 2 (HLA-DXB))2
HLA Class II Histocompatibility Antigen, DX Beta Chain2 3     HLA Class II Histocompatibility Antigen, DQ Beta 2 Chain2
MHC Class II Antigen DQB22 3     Major Histocompatibility Complex, Class II, DQ Beta 12

External Ids:    HGNC: 49451   Entrez Gene: 31202   Ensembl: ENSG000002326297   OMIM: 6151615   UniProtKB: P055383   

Export aliases for HLA-DQB2 gene to outside databases

Previous GC identifers: GC06U990047 GC06M032721 GC06M032676 GC06M032077 GC06M032831 GC06M032725


(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-DQB2 Gene:
HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting
of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune
system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen
presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains
specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow
transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on
transplantation. There is conflicting evidence in the literature and public sequence databases for the
protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is
represented in Entrez Gene and in RefSeq as a protein-coding locus. (provided by RefSeq, Oct 2010)

GeneCards Summary for HLA-DQB2 Gene: 
HLA-DQB2 (major histocompatibility complex, class II, DQ beta 2) is a protein-coding gene. Diseases associated with HLA-DQB2 include chronic interstitial cystitis, and spermatic cord torsion, and among its related super-pathways are Phosphorylation of CD3 and TCR zeta chains and Interferon Signaling. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.

UniProtKB/Swiss-Prot: DQB2_HUMAN, P05538
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. The peptides presented by MHC class II molecules are generated mostly by degradation
of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
(class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the
regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
efficient peptide loading

Gene Wiki entry for HLA-DQB2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HLA-DQB2 gene promoter:
         HOXA9   HOXA9B   AML1a   HTF   HNF-4alpha2   Meis-1b   HNF-4alpha1   Meis-1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HLA-DQB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-DQB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

HLA-DQB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-DQB2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032728:  view genomic region     (about GC identifiers)

Start:
32,723,875 bp from pter      End:
32,731,330 bp from pter
Size:
7,456 bases      Orientation:
minus strand

6/7 alternative locations (see all 7):
Chr6-,NT_167249 4,155,541-4,162,996      Chr6-,NT_167244 4,012,153-4,019,609      Chr6-,NT_167247 4,061,058-4,068,516     
Chr6-,NT_113891.2 4,169,777-4,177,233      Chr6-,NT_167246 4,181,070-4,188,528      Chr6-,NT_167245 4,006,439-4,013,897     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DQB2_HUMAN, P05538 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DQ beta 2 chain precursor  
Size: 268 amino acids; 30387 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. Dimer formation with
HLA-DQA2, but not with HLA-DQA1, is required for efficient exit from the endoplasmic reticulum (ER). In the ER,
forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA
class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential
degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class
II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of
antigenic peptides. Association with HLA-DMA also occurs in skin Langerhans cells, in post-Golgi compartments
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic
pathway until it reaches the cell membrane for antigen presentation
Sequence caution: Sequence=CAA60790.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NIA5 Q29826 Q29870 Q29871 Q29872 Q29873 Q5SR06
Alternative splicing: 2 isoforms:  P05538-1   P05538-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HLA-DQB2: NX_P05538

Explore proteomics data for HLA-DQB2 at MOPED 

HLA-DQB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

HLA-DQB2 Protein Expression

REFSEQ proteins: NP_001185787.1  
ENSEMBL proteins: 
 ENSP00000390431   ENSP00000410512   ENSP00000396330   ENSP00000415997  
Reactome Protein details: P05538
Human Recombinant Protein Products for HLA-DQB2: 
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Novus Biologicals HLA-DQB2 Protein
Novus Biologicals HLA-DQB2 Lysate
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Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000139Golgi membrane TAS--
GO:0005765lysosomal membrane TAS--
GO:0005886plasma membrane TAS--
GO:0010008endosome membrane IEA--
GO:0012507ER to Golgi transport vesicle membrane TAS--

HLA-DQB2 for ontologies           About GeneDecksing



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LSBio Antibodies in human, mouse, rat for HLA-DQB2 

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Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
HLA: Histocompatibility complex
C1SET: Immunoglobulin superfamily / C1-set domain containing

5/7 InterPro protein domains (see all 7):
 IPR011162 MHC_I/II-like_Ag-recog
 IPR000353 MHC_II_b_N
 IPR013783 Ig-like_fold
 IPR014745 MHC_II_a/b_N
 IPR003597 Ig_C1-set

Graphical View of Domain Structure for InterPro Entry P05538

ProtoNet protein and cluster: P05538

3 Blocks protein domains:
IPB000353 Class II histocompatibility antigen
IPB001003 MHC Class II alpha chain
IPB003597 Immunoglobulin C-type


UniProtKB/Swiss-Prot: DQB2_HUMAN, P05538
Similarity: Belongs to the MHC class II family
Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


HLA-DQB2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: DQB2_HUMAN, P05538
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. The peptides presented by MHC class II molecules are generated mostly by degradation
of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
(class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the
regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
efficient peptide loading

     Genatlas biochemistry entry for HLA-DQB2:
HLA-DQ,beta chain-related,not known to be expressed

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0032395MHC class II receptor activity NAS2564844
     
HLA-DQB2 for ontologies           About GeneDecksing


Phenotypes:
     3 GenomeRNAi human phenotypes for HLA-DQB2:
 Decreased cell number and incr  Increased G1 DNA content  Increased gamma-H2AX phosphory 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for HLA-DQB2 
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Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQB2


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for HLA-DQB2 About   (see all 12)                                                                                              See pathways by source

SuperPathContained pathways About
1Translocation of ZAP-70 to Immunological synapse
Translocation of ZAP-70 to Immunological synapse0.85
PD-1 signaling0.77
Phosphorylation of CD3 and TCR zeta chains0.85
Generation of second messenger molecules0.64
2Interferon Signaling
Interferon Signaling0.61
Interferon gamma signaling0.41
Cytokine Signaling in Immune system0.61
3TCR signaling
TCR signaling0.75
Downstream TCR signaling0.75
4Immune System
Immune System0.56
Adaptive Immune System0.56
5Immune response ICOS pathway in T-helper cell
Immune response ICOS pathway in T-helper cell0.91

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

5/6 EMD Millipore Pathways for HLA-DQB2 (see all 6)
    Immune response Antigen presentation by MHC class II
G-protein signaling N-RAS regulation pathway
Immune response IL-22 signaling pathway
Immune response NFAT in immune response
Immune response ICOS pathway in T-helper cell


5/6 GeneGo (Thomson Reuters) Pathways for HLA-DQB2 (see all 6)
    Immune response Antigen presentation by MHC class II
Immune response ICOS pathway in T-helper cell
Immune response T cell receptor signaling pathway
Immune response IL-22 signaling pathway
G-protein signaling N-RAS regulation pathway

5/13        Reactome Pathways for HLA-DQB2 (see all 13)
    Interferon gamma signaling
Costimulation by the CD28 family
Cytokine Signaling in Immune system
Adaptive Immune System
Translocation of ZAP-70 to Immunological synapse



HLA-DQB2 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HLA-DQB2

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class II ----
GO:0006955immune response NAS2564844
GO:0019221cytokine-mediated signaling pathway TAS--
GO:0019882antigen processing and presentation ----
GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

HLA-DQB2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HLA-DQB2 (DQB2)

Search CenterWatch for drugs/clinical trials and news about HLA-DQB2 / DQB2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HLA-DQB2 gene (2 alternative transcripts): 
NM_001198858.1  NM_182549.1  

Unigene Cluster for HLA-DQB2:

Major histocompatibility complex, class II, DQ beta 2
Hs.731563  [show with all ESTs]
Unigene Representative Sequence: AK098007
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000411527 ENST00000435145(uc003obz.2) ENST00000437316(uc003oby.4)
ENST00000427449
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Additional mRNA sequence: 

AK098007.1 BC031995.1 M95729.1 

16 DOTS entries:

DT.121314578  DT.121314508  DT.95274661  DT.85104317  DT.92443956  DT.121314743  DT.87078525  DT.121314811 
DT.40250885  DT.87078313  DT.92404855  DT.121314814  DT.92443957  DT.121314570  DT.121314712  DT.95274643 

18 AceView cDNA sequences:

BG675599 BG680248 BC031995 BG545654 M95729 CD694814 BX092875 AK098007 
CA309454 NM_182549 BG538183 BI833727 CD709138 T96621 CD687717 CD684765 
BE046094 T96731 

GeneLoc Exon Structure


(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-DQB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACAAACAAAA
HLA-DQB2 Expression
About this image


See HLA-DQB2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HLA-DQB2

SOURCE GeneReport for Unigene cluster: Hs.731563

UniProtKB/Swiss-Prot: DQB2_HUMAN, P05538
Tissue specificity: Restricted to skin Langerhans cells (at protein level)

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQB2

(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-DQB2 gene from 3/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves BLB16
--
--
44(a)
36(a)
many ↔ many
many ↔ many
16(102122-103266)
AADN03010751.1(32-1186)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
34(a)
1 → many
GL343520.1(320149-320904)
zebrafish
(Danio rerio)
Actinopterygii mhc2dab6
si:zfos-2070c2.36
(see all 10)
si:zfos-2070c2.3
(see all 10)
27(a)
26(a)
(see all 10)
many ↔ many
many ↔ many
(see all 10)
8(37546100-37548453)
8(37510422-37511403)
        Species with no ortholog for HLA-DQB2

ENSEMBL Gene Tree for HLA-DQB2 (if available)
TreeFam Gene Tree for HLA-DQB2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for HLA-DQB2 gene
HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DRB12  HLA-DOB2  HLA-DMA2  
HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
18/112 SIMAP similar genes for HLA-DQB2 using alignment to 7 protein entries:     DQB2_HUMAN (see all proteins) (see all similar genes):
HLQ-DQB1    HLA-DQ-beta    HLA-DQB    HLA-DQ3    HLA-DQB1*06x    HLA DQB1
HLA DRB4    HLA-DQ    HLA-Dw12    HLA-DRB4*0102    HLA-DQB1    HLA-DQB3
HLA-DQB1/DRB1    HLA-DRB13    MHC Class II HLA DRB1    DQB1-02    HLA-DRB2    HLA-D8.2V

HLA-DQB2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/420 SNPs in HLA-DQB2 are shown (see all 420)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0694464
----see VAR_0694462 S G mis40--------
VAR_0694474
----see VAR_0694472 I V mis40--------
rs77700451,2
C,F,A--32723379(+) CTCATT/GGAATA 1 -- ds500110Minor allele frequency- G:0.48NA WA CSA EA 372
rs1813338291,2
--32723382(+) ATTGAA/GTATCT 1 -- ds50010--------
rs1441338341,2
C--32723456(+) GTCTAA/TCATTT 1 -- ds50010--------
rs1119752201,2
C--32723465(+) TTGGAG/ACCAAA 1 -- ds50011Minor allele frequency- A:0.50WA 2
rs77699591,2
C,F,A--32723486(+) TCATTC/GCTGGT 1 -- ds500112Minor allele frequency- G:0.48NA WA CSA EA 512
rs94618071,2
C,F--32723506(+) TTAAAA/GATAAA 1 -- ds50013Minor allele frequency- G:0.09WA NA EA 358
rs2000196451,2
C--32723517(+) AATTAG/TTCTTG 1 -- ds50010--------
rs77699741,2
C,F,A,H--32723518(+) ATTAGC/TCTTGA 1 -- ds500119Minor allele frequency- T:0.50NA NS EA CSA WA 1346

HapMap Linkage Disequilibrium report for HLA-DQB2 (32723875 - 32731330 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for HLA-DQB2:    About this table     
Variant IDTypeSubtypePubMed ID
esv2670072CNV Deletion23128226
dgv1113e199CNV Deletion23128226
dgv1046e201CNV Deletion23290073
nsv830632CNV Loss17160897
esv6650CNV Loss19470904
nsv885706CNV Gain21882294
nsv428142CNV Gain+Loss18775914
esv21985CNV Gain+Loss19812545
nsv511120CNV Complex20534489


Locus Specific Mutation Databases (LSDB): HLA-DQB2
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing HLA-DQB2
DNA2.0 Custom Variant and Variant Library Synthesis for HLA-DQB2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 615161    OMIM disorders: --

13 diseases for HLA-DQB2:    About MalaCards
chronic interstitial cystitis    spermatic cord torsion    coronary artery aneurysm    kawasaki disease
cystitis    systemic lupus erythematosus    hepatitis b    kaposi's sarcoma
lupus erythematosus    rheumatoid arthritis    arthritis    sarcoma
hepatitis


HLA-DQB2 for disorders           About GeneDecksing

Genetic Association Database (GAD): HLA-DQB2
Human Genome Epidemiology (HuGE) Navigator: HLA-DQB2 (7 documents)

Export disorders for HLA-DQB2 gene to outside databases

(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)
About This Section

PubMed articles for HLA-DQB2 gene, integrated from 9 sources (see all 71):
(articles sorted by number of sources associating them with HLA-DQB2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Remarkable sequence conservation of the HLA-DQB2 locus (DX beta) within the highly polymorphic DQ subregion of the human MHC. (PubMed id 2564844)1, 2, 3 Berdoz J.... Gorski J. (1989)
  2. HLA-DQA2 and HLA-DQB2 genes are specifically expressed in human Langerhans cells and encode a new HLA class II molecule. (PubMed id 22407913)1, 2 Lenormand C....Tourne S. (2012)
  3. A genome-wide association study identifies three new r isk loci for Kawasaki disease. (PubMed id 22446962)1, 4 Onouchi Y.... . (2012)
  4. A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population. (PubMed id 21750111)1, 4 Mbarek H....Matsuda K. (2011)
  5. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. (PubMed id 21408207)1, 4 Chung S.A....Criswell L.A. (2011)
  6. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Tevfik Dorak M. (2010)
  7. HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms. (PubMed id 19180512)1, 4 Lin Y.J....Tsai F.J. (2009)
  8. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (2009)
  9. Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences. (PubMed id 14730600)1, 4 Kochi Y....Yamamoto K. (2004)
  10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 3120 HGNC: 4945 AceView: HLA-DQB2 Ensembl:ENSG00000232629 euGenes: HUgn3120
ECgene: HLA-DQB2 H-InvDB: HLA-DQB2

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for HLA-DQB2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for HLA-DQB2 gene:
Search GeneIP for patents involving HLA-DQB2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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