LongevityMap Gene
Gene details
- HGNC symbol
- HLA-DQB1
- Aliases
- IDDM1; CELIAC1; HLA-DQB
- Common name
- major histocompatibility complex, class II, DQ beta 1
- Description
- HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays 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). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
- Cytogenetic Location
- 6p21.32
- UCSC Genome Browser
- View 6p21.32 on the UCSC genome browser
- OMIM
- 604305
- Ensembl
- ENSG00000179344
- UniProt/Swiss-Prot
- DQB1_HUMAN
- Entrez Gene
- 3119
- UniGene
- 409934
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- mhc2dab
- Danio rerio
- si:dkey-33b17.3
- Danio rerio
- mhc2dbb
- Danio rerio
- mhc2dab
- Danio rerio
- zgc:103700
- Danio rerio
- si:zfos-2070c2.3
- Danio rerio
- zgc:103700
- Danio rerio
- mhc2dab
- Danio rerio
- si:ch73-158p21.3
- Danio rerio
- si:busm1-228j01.4
- Danio rerio
- si:busm1-194e12.12
- Danio rerio
- si:busm1-104n07.3
- Danio rerio
- si:busm1-228j01.6
- Danio rerio
- si:busm1-228j01.4
- Danio rerio
- mhc2dab
Studies (3)
Significant/Non-significant: 1/2
Study 1
- Longevity Association
- Non-significant
- Population
- Italian (Sardinia)
- Study Design
- 129 centenarians and 154 sexagenarians randomly selected from the inhabitants of the same province were examined. In addition, 24 85-year-old sibs of centenarians were enrolled.
- Conclusions
- Sib pair analysis showed nonsignificant differences between the observed and expected percentage of DQB1* allele sharing.
- Indentifier
- HLA-DQB1
- Reference
Study 2
- Longevity Association
- Significant
- Population
- Japanese (Okinawa)
- Study Design
- Polymorphisms in HLA class II alleles of Okinawan centenarians were analyzed
- Conclusions
- DQB105 and DQB103 alleles were significantly more frequent in the centenarians
- Indentifier
- DQB105
- Reference
Study 3
- Longevity Association
- Non-significant
- Population
- Bulgarian
- Study Design
- 5 alleles were examined in 17 unrelated elderly (age 65-90 years; 6 males and 11 females), 23 family members (age 18-57 years; 9 males and 14 females, and a control group with 105 randomly selected, matched for geographical distribution healthy controls aged 25-53 years (40 male and 65 female)
- Conclusions
- The most frequent DQB1 alleles in elderly Bulgarians were DQB103 and DQB105, though differences were not statistically significant after correcting for multiple testing
- Indentifier
- DQB105
- Reference