Free for academic non-profit institutions. Other users need a Commercial license

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
  • Major Histocompatibility Complex, Class II, DQ Beta 1 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. Among its related pathways are Immune System and Interferon gamma signaling. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DMA.

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

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

Proteomics data for HLA-DQB2 Gene at MOPED

Post-translational modifications for HLA-DQB2 Gene

  • Glycosylation at Asn 51
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-DQB2 Gene

Antibody Products

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

Animal Model Products

CRISPR Products

miRNA for HLA-DQB2 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005765 lysosomal membrane TAS --
GO:0010008 endosome membrane IEA --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
GO:0030666 endocytic vesicle membrane TAS --
GO:0032588 trans-Golgi network membrane TAS --
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

Interacting Proteins for HLA-DQB2 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA --
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0019882 antigen processing and presentation IEA --
genes like me logo Genes that share ontologies with HLA-DQB2: view

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

Drugs & Compounds for HLA-DQB2 Gene

No Compound Related Data Available

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:

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



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

Protein tissue co-expression partners for HLA-DQB2 Gene

- Elite partner

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia BOLA-DQB 36
  • 61 (a)
ManyToMany
BOLA-DQB 36
  • 66 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 48 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia H2-Ab1 36
  • 59 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 40 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia HLA-DQB2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLA-DQBC1 36
  • 67 (a)
OneToMany
Species with no ortholog for HLA-DQB2:
  • 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
rs1049110 - 32,759,026(-) AGTCC(A/G)GTGGT reference, missense
VAR_069446 -
VAR_069447 -
rs3656 -- 32,756,266(-) TCCTG(C/T)ACTGA utr-variant-3-prime
rs762815 -- 32,761,865(-) GTGCG(C/G/T)GGTGT reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv428142 CNV Gain+Loss 18775914
esv21985 CNV Gain+Loss 19812545
nsv511120 CNV Complex 20534489
nsv830632 CNV Loss 17160897
dgv1046e201 CNV Deletion 23290073
dgv1113e199 CNV Deletion 23128226
esv6650 CNV Loss 19470904
esv2670072 CNV Deletion 23128226
nsv885706 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
HLA-DQB2

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

Disorders for HLA-DQB2 Gene

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

No disorders were found for HLA-DQB2 Gene.

No data available for MalaCards , 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The activity of Nef on HIV-1 infectivity. (PMID: 24904546) Basmaciogullari S. … Pizzato M. (Front Microbiol 2014) 3
  4. A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese. (PMID: 24940741) Chang S.W. … Tai D.I. (PLoS ONE 2014) 3
  5. Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. (PMID: 23349640) Vijai J. … Offit K. (PLoS Genet. 2013) 3

Products for HLA-DQB2 Gene

Sources for HLA-DQB2 Gene

Back to Top

Content