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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]
HLA-DQB2 (Major Histocompatibility Complex, Class II, DQ Beta 2) is a Protein Coding gene. Diseases associated with HLA-DQB2 include Tomato Allergy. Among its related pathways are Th17 cell differentiation and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DQB1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032395 | MHC class II receptor activity | NAS | 2564844 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | TAS | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
2 | Immune response NFAT in immune response |
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
|
Immune response T cell receptor signaling pathway
.52
|
3 | TCR signaling (REACTOME) |
.83
|
|
4 | Interferon gamma signaling | ||
5 | G-protein signaling N-RAS regulation pathway |
G-protein signaling N-RAS regulation pathway
.52
|
Immune response Antigen presentation by MHC class II
.52
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
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 | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HLA-DQB2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DLA-DQBC1 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | BOLA-DQB 31 31 |
|
ManyToMany | |
Mouse (Mus musculus) |
Mammalia | H2-Ab1 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
785166 | Benign: not provided | 32,761,931(-) | G/A | INTRON_VARIANT | |
rs1049110 | - | p.Arg161Gln | |||
VAR_069446 | - | p.Ser232Gly | |||
VAR_069447 | - | p.Ile234Val |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
tomato allergy |
|
|