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

HLA-DQB2 Gene

protein-coding   GIFtS: 48
GCID: GC06M032728

major histocompatibility complex, class II, DQ beta 2


(Previous symbol: HLA-DXB)
 Explore 11 diseases affiliated with
HLA-DQB2 via our new
 Human Malady Compendium 
Biological research products
for HLA-DQB2
    

(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 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   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:
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)

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


(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_167244.1  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-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-,ALT_REF_LOCI_4 32,800,729-32,808,187      Chr6-,ALT_REF_LOCI_5 32,672,481-32,679,939      Chr6-,ALT_REF_LOCI_6 32,652,598-32,695,637     
Chr6-,ALT_REF_LOCI_3 32,703,042-32,721,538      Chr6-,ALT_REF_LOCI_2 32,647,573-32,694,217      Chr6-,ALT_REF_LOCI_1 32,708,756-32,724,512     

(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: 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. In the endoplasmic
reticulum (ER) it 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
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
Caution: This gene appears not to be expressed
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

HLA-DQB2 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001185787.1  
ENSEMBL proteins: 
 ENSP00000396330   ENSP00000410512   ENSP00000390431   ENSP00000415997  
Reactome Protein details: P05538
Human Recombinant Protein Products: 
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OriGene Protein Over-expression Lysate (see all 2): HLA-DQB2
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Novus Biologicals HLA-DQB2 Protein
Novus Biologicals HLA-DQB2 Lysate
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins
Browse Proteins at Uscn

Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000139Golgi membrane TAS--
GO:0005765lysosomal membrane TAS--
GO:0005769early endosome ----
GO:0005771multivesicular body ----
GO:0005794Golgi apparatus ----


HLA-DQB2 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HLA-DQB2 for domains           About GeneDecksing

5/7 InterPro domains/families (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 families:
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


(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: 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

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

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0015643toxin binding ----
GO:0031625ubiquitin protein ligase binding ----
GO:0032395MHC class II receptor activity NAS2564844
GO:0042605peptide antigen binding ----
GO:0070491repressing transcription factor binding ----


HLA-DQB2 for ontologies           About GeneDecksing


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


(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 - 5/14 super-pathways (see all 14About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Transport of MHC II:Ii complex along Golgi to TGN
Transport of MHC II:Ii complex to plasma membrane1.00
Trafficking of nonameric complex in the endocytic pathway1.00
Transport of MHC II:Ii complex along Golgi to TGN1.00
Internalization of MHC II:Ii clathrin coated vesicle0.52
Insertion of MHC II:Ii complex in to the plasma membrane1.00
2Translocation of ZAP-70 to Immunological synapse
Translocation of ZAP-70 to Immunological synapse1.00
PD-1 signaling0.76
Phosphorylation of CD3 and TCR zeta chains0.85
Generation of second messenger molecules0.64
3Immune response_NFAT in immune response
Immune response_NFAT in immune response1.00
Immune response NFAT in immune response0.91
4Immune response_ICOS pathway in T-helper cell
Immune response_ICOS pathway in T-helper cell1.00
Immune response ICOS pathway in T-helper cell0.91
5Immune response_Antigen presentation by MHC class II
Immune response_Antigen presentation by MHC class II1.00
Immune response Antigen presentation by MHC class II0.76

Pathway sources
See GeneCards unified pathways
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

5/20        Reactome Pathways for HLA-DQB2 (see all 20)
    Internalization of MHC II:Ii clathrin coated vesicle
Costimulation by the CD28 family
Transport of MHC II:Ii complex along Golgi to TGN
Transport of MHC II:Ii complex to plasma membrane
Transport of antigen loaded MHC II molecules to surface



HLA-DQB2 for pathways           About GeneDecksing

Interactions:

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

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002344B cell affinity maturation ----
GO:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class II ----
GO:0002579positive regulation of antigen processing and presentation ----
GO:0002827positive regulation of T-helper 1 type immune response ----
GO:0006955immune response NAS2564844


HLA-DQB2 for ontologies           About GeneDecksing



(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
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HLA-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 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-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:
ENST00000437316(uc003oby.4) ENST00000435145(uc003obz.2) ENST00000411527
ENST00000427449

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Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HLA-DQB2
Clone
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Additional cDNA 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:

M95729 BG545654 BG680248 CD694814 BG675599 AK098007 CA309454 BX092875 
BC031995 NM_182549 BI833727 BG538183 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
CGAP TAG: ACAAACAAAA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene 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
    SABiosciences Custom PCR Arrays for HLA-DQB2
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-DQB2
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 2/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves --
E2JF30_CHICK6
(see all 3)
MHC class II beta chain
(see all 3)
46(a)
39(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
16(375632-376577)
16(69833-71353)
lizard
(Anolis carolinensis)
Reptilia HLA-DPB16
--
34(a)
1 → many
GL343520.1(320149-320904)


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)
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Paralogs for HLA-DQB2 gene
HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DOB2  HLA-DRB12  HLA-DMA2  
HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
18/114 SIMAP similar genes for HLA-DQB2 using alignment to 17 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-DQB1    HLA-Dw12    HLA-DRB4*0102    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, 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)
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10/381 NCBI SNPs in HLA-DQB2 are shown (see all 381    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
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
--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
rs1135023111,2
C,--32723563(+) CATCAG/CTCACT 1 -- ds50011Minor allele frequency- C:0.50WA 2
rs77699791,2
C,F,A,H,--32723572(+) CTATAA/GTTGTC 1 -- ds500124Minor allele frequency- G:0.43NS EA NA WA 2936

HapMap Linkage Disequilibrium report for HLA-DQB2 (32723875 - 32731330 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for HLA-DQB2
     4 CNVs: 69417 62501 64476 69419
Locus Specific Mutation Databases (LSDB): HLA-DQB2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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HLA-DQB2 for disorders           About GeneDecksing

11 diseases for HLA-DQB2:    About MalaCards
spermatic cord torsion    chronic interstitial cystitis    coronary artery aneurysm    systemic lupus erythematosus
lupus erythematosus    kawasaki disease    rheumatoid arthritis    hepatitis b
arthritis    hepatitis    immunodeficiency

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)
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PubMed articles for HLA-DQB2 gene, integrated from 9 sources (see all 66):
(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. 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)
  3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
  4. Absence of in vivo DNA-protein interactions in the DQA2 and DQB2 promoter regions. (PubMed id 11334674)1, 2 Indovina P....Mazzilli M.C. (2001)
  5. Evolutionary dynamics of non-coding sequences within the class II region of the human MHC. (PubMed id 8568858)1, 2 Beck S.... Trowsdale J. (1996)
  6. Class II genes of the human major histocompatibility complex. Comparisons of the DQ and DX alpha and beta genes. (PubMed id 3036828)1, 2 Jonsson A.-K.... Rask L. (1987)
  7. Gene organization of DC and DX subregions of the human major histocompatibility complex. (PubMed id 3858830)1, 2 Okada K.... Strominger J.L. (1985)
  8. HIV-1 Gag-virus-like particles induce natural killer c ell immune responses via activation and maturation of dendritic cells. (PubMed id 21778700)1 Chang M.O....Takaku H. (2012)
  9. 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 Lenormand C....Tourne S. (2012)
  10. A genome-wide association study identifies three new r isk loci for Kawasaki disease. (PubMed id 22446962)1 Onouchi Y.... . (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3120 HGNC: 4945 AceView: HLA-DQB2 Ensembl:ENSG00000232629 euGenes: HUgn3120
ECgene: HLA-DQB2 H-InvDB: HLA-DQB2

(According to HUGE)
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  --

(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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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.)
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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



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