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Aliases for HLA-DQB2 Gene

Aliases for HLA-DQB2 Gene

  • Major Histocompatibility Complex, Class II, DQ Beta 2 2 3 5
  • HLA Class II Histocompatibility Antigen, DX Beta Chain 3 4
  • MHC Class II Antigen DQB2 3 4
  • HLA-DXB 3 4
  • DV19.1 (Major Histocompatibility Complex, Class II, DQ Beta 2 (HLA-DXB)) 3
  • HLA Class II Histocompatibility Antigen, DQ Beta 2 Chain 3
  • HLA-DQB1 3

External Ids for HLA-DQB2 Gene

Previous HGNC Symbols for HLA-DQB2 Gene

  • HLA-DXB

Previous GeneCards Identifiers for HLA-DQB2 Gene

  • GC06U990047
  • GC06M032721
  • GC06M032676
  • GC06M032077
  • GC06M032831
  • GC06M032725

Summaries for HLA-DQB2 Gene

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 Kleine-Levin Hibernation Syndrome and Recurrent Hypersomnia. Among its related pathways are Interferon gamma signaling and G-protein signaling N-RAS regulation pathway. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DQB1.

UniProtKB/Swiss-Prot for HLA-DQB2 Gene

  • 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 microenvironment 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DQB2 Gene

Genomics for HLA-DQB2 Gene

Regulatory Elements for HLA-DQB2 Gene

Enhancers for HLA-DQB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F032633 1.4 FANTOM5 Ensembl ENCODE 60.6 +126.5 126549 7.2 HDGF WRNIP1 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 TBX21 HLA-DQA1 HLA-DQB1 HLA-DQA2 HLA-DRB1 HLA-DQB2 HLA-DRB5 HLA-DRB6 CYP21A1P LOC102725019 MIR219A1
GH06F032765 0.8 FANTOM5 50.8 -1.6 -1588 0.2 HLA-DQB2 HLA-DQA2 LOC102725019 HLA-DQB1 HLA-DRB6 HLA-DPB1 HLA-DRA HLA-DRB1 HLA-DPA1 HLA-DQA1
GH06F032664 0.7 ENCODE 47.1 +96.5 96476 5.0 HDGF PKNOX1 WRNIP1 GLI4 ZNF2 GLIS2 ZNF143 NFYC ZSCAN16 GLIS1 HLA-DQA1 HLA-DQB1 HLA-DQB1-AS1 HLA-DQB2 HLA-DRB1 HLA-DQA2 HLA-DRB6 C4A LY6G5B VPS52
GH06F032660 0.7 ENCODE 45.5 +103.5 103480 1.5 TBP RAD51 SMAD5 POLR2A EBF1 CREM HLA-DQA1 HLA-DQB1 HLA-DQB2 HLA-DQA2 HLA-DQB1-AS1 CYP21A1P HLA-DRB6 GC06M032664
GH06F032641 0.2 Ensembl 40.4 +121.5 121496 2.1 HDGF PKNOX1 ATF1 BMI1 YY1 ZNF335 CBX5 SCRT2 ZNF143 ZNF207 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-DRB6 HLA-DQA2 HLA-DQB2 CYP21A1P HLA-DRB5 HLA-DQB1-AS1 GC06P032637
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HLA-DQB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HLA-DQB2 Gene

Chromosome:
6
Start:
32,756,094 bp from pter
End:
32,763,553 bp from pter
Size:
7,460 bases
Orientation:
Minus strand

Genomic View for HLA-DQB2 Gene

Genes around HLA-DQB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-DQB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-DQB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-DQB2 Gene

  • Protein details for HLA-DQB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05538-DQB2_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DQ beta 2 chain
    Protein Accession:
    P05538
    Secondary Accessions:
    • A6NIA5
    • Q29826
    • Q29870
    • Q29871
    • Q29872
    • Q29873
    • Q5SR06

    Protein attributes for HLA-DQB2 Gene

    Size:
    268 amino acids
    Molecular mass:
    30387 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAA60790.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for HLA-DQB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HLA-DQB2 Gene

Post-translational modifications for HLA-DQB2 Gene

  • Glycosylation at Asn 51
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-DQB2 Gene

No data available for DME Specific Peptides for HLA-DQB2 Gene

Domains & Families for HLA-DQB2 Gene

Graphical View of Domain Structure for InterPro Entry

P05538

UniProtKB/Swiss-Prot:

DQB2_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class II family.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DQB2: view

Function for HLA-DQB2 Gene

Molecular function for HLA-DQB2 Gene

GENATLAS Biochemistry:
HLA-DQ,beta chain-related,not known to be expressed
UniProtKB/Swiss-Prot 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 microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.

Gene Ontology (GO) - Molecular Function for HLA-DQB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032395 MHC class II receptor activity NAS 2564844
genes like me logo Genes that share ontologies with HLA-DQB2: view
genes like me logo Genes that share phenotypes with HLA-DQB2: view

Animal Model Products

miRNA for HLA-DQB2 Gene

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HLA-DQB2 Gene

Localization for HLA-DQB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DQB2 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HLA-DQB2 Gene COMPARTMENTS Subcellular localization image for HLA-DQB2 gene
Compartment Confidence
extracellular 3
plasma membrane 3
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for HLA-DQB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,TAS --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with HLA-DQB2: view

Pathways & Interactions for HLA-DQB2 Gene

genes like me logo Genes that share pathways with HLA-DQB2: view

Gene Ontology (GO) - Biological Process for HLA-DQB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA --
GO:0006955 immune response IEA,NAS 2564844
GO:0019882 antigen processing and presentation IEA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with HLA-DQB2: view

No data available for SIGNOR curated interactions for HLA-DQB2 Gene

Transcripts for HLA-DQB2 Gene

mRNA/cDNA for HLA-DQB2 Gene

Unigene Clusters for HLA-DQB2 Gene

Major histocompatibility complex, class II, DQ beta 2:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DQB2 Gene

No ASD Table

Relevant External Links for HLA-DQB2 Gene

GeneLoc Exon Structure for
HLA-DQB2
ECgene alternative splicing isoforms for
HLA-DQB2

Expression for HLA-DQB2 Gene

mRNA expression in normal human tissues for HLA-DQB2 Gene

mRNA differential expression in normal tissues according to GTEx for HLA-DQB2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x14.7) and Skin - Sun Exposed (Lower leg) (x12.9).

Protein differential expression in normal tissues from HIPED for HLA-DQB2 Gene

This gene is overexpressed in NK cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HLA-DQB2 Gene



Protein tissue co-expression partners for HLA-DQB2 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for HLA-DQB2 Gene:

Hs.731563

mRNA Expression by UniProt/SwissProt for HLA-DQB2 Gene:

P05538-DQB2_HUMAN
Tissue specificity: Restricted to skin Langerhans cells (at protein level).
genes like me logo Genes that share expression patterns with HLA-DQB2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HLA-DQB2 Gene

Orthologs for HLA-DQB2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for HLA-DQB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HLA-DQB2 35
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLA-DQBC1 35
  • 67 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BOLA-DQB 35 35
  • 61 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia H2-Ab1 35
  • 59 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 48 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 40 (a)
ManyToMany
Species where no ortholog for HLA-DQB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HLA-DQB2 Gene

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

Paralogs for HLA-DQB2 Gene

genes like me logo Genes that share paralogs with HLA-DQB2: view

Variants for HLA-DQB2 Gene

Sequence variations from dbSNP and Humsavar for HLA-DQB2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1023448 -- 32,760,414(-) CCACA(A/G)TTATG intron-variant
rs1023449 -- 32,760,128(-) GTCAA(G/T)TATTT intron-variant
rs10456071 -- 32,762,403(+) ATTCT(C/G/T)TTGGT intron-variant
rs1049110 -- 32,759,026(-) AGTCC(A/G)GTGGT reference, missense
rs10695453 -- 32,760,073(+) AGAAA(A/C)AAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HLA-DQB2 Gene

Variant ID Type Subtype PubMed ID
dgv10472n54 CNV loss 21841781
dgv10490n54 CNV loss 21841781
dgv10549n54 CNV loss 21841781
dgv10586n54 CNV loss 21841781
dgv1113e199 CNV deletion 23128226
dgv999e201 CNV deletion 23290073
esv21985 CNV gain+loss 19812545
esv2670072 CNV deletion 23128226
esv3433181 CNV duplication 20981092
esv6650 CNV loss 19470904
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv428142 CNV gain+loss 18775914
nsv511120 OTHER complex 20534489
nsv602240 CNV gain 21841781
nsv602758 CNV gain+loss 21841781
nsv830632 CNV loss 17160897
nsv970107 CNV duplication 23825009

Variation tolerance for HLA-DQB2 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLA-DQB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-DQB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DQB2 Gene

Disorders for HLA-DQB2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HLA-DQB2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kleine-levin hibernation syndrome
  • kleine-levin syndrome
recurrent hypersomnia
  • primary recurrent hypersomnia
geographic tongue
  • benign migratory glossitis
diabetes mellitus, insulin-dependent
  • diabetes, type 1
podoconiosis
  • podoconiosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HLA-DQB2

Genetic Association Database (GAD)
HLA-DQB2
Human Genome Epidemiology (HuGE) Navigator
HLA-DQB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLA-DQB2
genes like me logo Genes that share disorders with HLA-DQB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-DQB2 Gene

Publications for HLA-DQB2 Gene

  1. Remarkable sequence conservation of the HLA-DQB2 locus (DX beta) within the highly polymorphic DQ subregion of the human MHC. (PMID: 2564844) Berdoz J. … Gorski J. (Immunogenetics 1989) 2 3 4 64
  2. HLA-DQA2 and HLA-DQB2 genes are specifically expressed in human Langerhans cells and encode a new HLA class II molecule. (PMID: 22407913) Lenormand C. … Tourne S. (J. Immunol. 2012) 3 4 64
  3. A genome-wide association study identifies three new risk loci for Kawasaki disease. (PMID: 22446962) Onouchi Y. … . (Nat. Genet. 2012) 3 46 64
  4. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. (PMID: 21408207) Chung S.A. … Criswell L.A. (PLoS Genet. 2011) 3 46 64
  5. A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population. (PMID: 21750111) Mbarek H. … Matsuda K. (Hum. Mol. Genet. 2011) 3 46 64

Products for HLA-DQB2 Gene

Sources for HLA-DQB2 Gene

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