| Tbio | HLA class I histocompatibility antigen, B-37 alpha chain |
Involved in the presentation of foreign antigens to the immune system.
HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Behcet's disease | 74 | 5.517 | 2.8 |
| Ankylosing spondylitis | 138 | 5.11 | 2.6 |
| Psoriatic arthritis | 85 | 3.595 | 1.8 |
| Juvenile rheumatoid arthritis | 105 | 0.0 | 5.0 |
| Rheumatoid Arthritis | 1171 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Congenital adrenal hyperplasia | 74 | 4.527 | 2.3 |
| Uveitis | 103 | 4.205 | 2.1 |
| psoriasis | 6685 | 4.167 | 2.1 |
| Hypersensitivity reaction type II disease | 235 | 3.874 | 1.9 |
| Acquired immunodeficiency syndrome | 164 | 3.746 | 1.9 |
| Cancer | 2346 | 3.73 | 1.9 |
| Arthritis | 248 | 3.531 | 1.8 |
| diabetes mellitus | 1663 | 3.308 | 1.7 |
| Retinal vasculitis | 36 | 3.14 | 1.6 |
| PMID | Text |
|---|---|
| 26967484 | HLA-B alleles are associated with dermatitis herpetiformis in Chinese population. |
| 26841353 | KIR-3DL2 binding to HLA-B27 licenses Th17 cell differentiation in spondyloarthritis. |
| 26819491 | HLA-B13:02, HLA-B38:02, HLA-B44:03, and HLA-B56:01 alleles were significantly increased in autistic subjects. HLA-B18:02 and HLA-B46:12 alleles were negatively associated with autism when compared to normal controls. |
| 26787826 | The results show that natural polymorphisms within HIV-1 Nef modulate its interaction with natural polymorphisms in the HLA cytoplasmic tails, thereby affecting the efficiency of HLA downregulation and consequent recognition by HIV-specific T cells. |
| 26758079 | All three B*35 subtypes showed a tapasin-independent mode of peptide acquisition. HLA-B*35-restricted peptides of low- and high-binding affinities were recovered in the presence and absence of tapasin |
| 26669670 | The HLA-B*35 antigen contributes to endoplasmic reticulum stress and inflammation in limited cutaneous systemic sclerosis patients. |
| 26640809 | The functional IL-6 polymorphism rs1800795 is associated with intermediate uveitis but not with HLAB27 acute anterior uveitis. |
| 26613595 | four amino-acid positions of HLA-B and -C account for most of the associations between ankylosing spondylitis and MHC in the Korean population |
| 26610302 | Study replicated the HLA-B*27 association with acute anterior uveitis , and confirmed that HLA-B*27 homozygosity further increases the risk of AAU almost twofold. |
| 26599303 | we found a significant association between carbimazole/methimazole-induced agranulocytosis and HLA-B*38:02:01 |
| More... |
MRVTAPRTLLLLLWGAVALTETWAGSHSMRYFHTSVSRPGRGEPRFISVGYVDDTQFVRFDSDAASPRTE 1 - 70 PRAPWIEQEGPEYWDRETQISKTNTQTYREDLRTLLRYYNQSEAGSHTIQRMSGCDVGPDGRLLRGYNQF 71 - 140 AYDGKDYIALNEDLSSWTAADTAAQITQRKWEAARVAEQDRAYLEGTCVEWLRRYLENGKETLQRADPPK 141 - 210 THVTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDRTFQKWAAVVVPSGEEQR 211 - 280 YTCHVQHEGLPKPLTLRWEPSSQSTIPIVGIVAGLAVLAVVVIGAVVATVMCRRKSSGGKGGSYSQAASS 281 - 350 DSAQGSDVSLTA 351 - 362 //
| PMID | Year | Title |
|---|---|---|
| 26967484 | 2016 | The HLA Alleles B*0801 and DRB1*0301 Are Associated with Dermatitis Herpetiformis in a Chinese Population. |
| 26841353 | 2016 | Activation-Induced Killer Cell Immunoglobulin-like Receptor 3DL2 Binding to HLA-B27 Licenses Pathogenic T Cell Differentiation in Spondyloarthritis. |
| 26819491 | 2015 | Significant Association of HLA-B Alleles and Genotypes in Thai Children with Autism Spectrum Disorders: A Case-Control Study. |
| 26787826 | 2016 | Relative Resistance of HLA-B to Downregulation by Naturally Occurring HIV-1 Nef Sequences. |
| 26758079 | 2016 | Understanding the obstacle of incompatibility at residue 156 within HLA-B*35 subtypes. |
| 26669670 | 2015 | The HLA-B*35 allele modulates ER stress, inflammation and proliferation in PBMCs from Limited Cutaneous Systemic Sclerosis patients. |
| 26640809 | 2015 | Analysis of a Functional IL-6 Gene Polymorphism in HLAB27 Associated and Intermediate Uveitis Gives New Insight in Disease Pathogenesis and Commonality with Other Autoimmune Diseases. |
| 26613595 | 2015 | An HLA-C amino-acid variant in addition to HLA-B*27 confers risk for ankylosing spondylitis in the Korean population. |
| 26610302 | The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis. | |
| 26599303 | 2016 | HLA-B*38:02:01 predicts carbimazole/methimazole-induced agranulocytosis. |
| More... |
