HLA-DR51
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HLA-DR51
HLA-DR51 is a HLA-DR serotype that recognizes the antigens encoded by the minor DR locus HLA-DRB5. DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been recognized as having distinct evolution, having diverged from DRB1 approximately 4 million years ago. DRB5 locus is only apparent in a small subset of DR haplotypes, and most individuals lack DRB5. Alleles DRB5* is subdivided into two allele groups, DRB5*01 and DRB5*02. B5*01 encodes 14 alleles and 11 isoforms. B5*02 encoded 4 alleles that can generate 4 isoforms. Only 3 of these have been surveyed by serotyping. There are numerous null genes at this locus. DRB5*01 allele group * 14 Alleles: 11 proteins, 2 Nulls * DR51 Serotype: *0101, *0102 * Serotype unknown: *0103 to *0107, *0109, *0110 to *0113 * Nulls: *0108N, *0110N DRB5*02 allele group * 4 Alleles: 4 proteins * DR51 Serotype: *0202, * Serotype unknown: *0203 to *0205 Associated diseases DR51 serotype is positively associated with The following HLA-DRB ...
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HLA-DR
HLA-DR is an MHC class II cell surface receptor encoded by the human leukocyte antigen complex on chromosome 6 region 6p21.31. The complex of HLA-DR (Human Leukocyte Antigen – DR isotype) and peptide, generally between 9 and 30 amino acids in length, constitutes a ligand for the T-cell receptor (TCR). HLA (human leukocyte antigens) were originally defined as cell surface antigens that mediate graft-versus-host disease. Identification of these antigens has led to greater success and longevity in organ transplant. Antigens most responsible for graft loss are HLA-DR (first six months), HLA-B (first two years), and HLA-A (long-term survival). Good matching of these antigens between host and donor is most critical for achieving graft survival. HLA-DR is also involved in several autoimmune conditions, disease susceptibility and disease resistance. It is also closely linked to HLA-DQ and this linkage often makes it difficult to resolve the more causative factor in disease. HLA-DR mol ...
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HLA-DR2
HLA-DR2 (DR2) of the HLA- DR serotype system, is a broad antigen serotype that is now preferentially covered by HLA-DR15 and HLA-DR16 serotype group. This serotype primarily recognizes gene products of the HLA-DRB1*15 and HLA-DRB1*16 allele groups. Serology Disease associations DR2 serotypes are associated with Goodpasture syndrome, systemic lupus erythematosus, multiple sclerosis, and narcolepsy, tuberculoid leprosy (multi-drug-resistant tuberculosis or leprosy), ulcerative colitis(Japanese), primary biliary cirrhosis and autoimmune hepatitis. DR2 is also found in all patients that test positive for anti-anti-Asn-RNA-synthetase and chronic interstitial lung disease. Genetic linkage DR2 is linked to the HLA-DR51 HLA-DR51 is a HLA-DR serotype that recognizes the antigens encoded by the minor DR locus HLA-DRB5. DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been recognized as having distinct evolution, having diverged from DRB1 approximate .... Reference ...
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HLA-DR15
HLA-DR15 (DR15) is a HLA- DR serotype that recognizes the DRB1*1501 to *1505 and *1507 gene products. DR15 is found at high levels from Ireland to Central Asia. DR15 is part of the older HLA-DR2 serotype group which also contains the similar HLA-DR16 antigens. Serology Serotypes are unknown for the following alleles: DRB1*1506, *1508 to *1516, *1518 to *1522. DRB1*1517N is a null. Alleles Disease associations DR15 is positively associated Goodpasture syndrome, early age onset multiple sclerosis, pernicious anaemia, sarcoidosis, hypocretin deficiency associated narcolepsy and a predisposition for postmenopausal osteoporosis. DRB1*1501 is positively associated with Goodpasture syndrome, juvenile rheumatoid arthritis, allergic bronchopulmonary aspergillosis, multiple sclerosis, systemic lupus erythematosus, cervical cancer (human papillomavirus infection), Sjögren syndrome associated with systemic lupus erythematosus, and intermediate uveitis. DRB1*1502 is associated ...
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HLA-DR16
HLA-DR16(DR16) is a HLA- DR serotype that recognizes the DRB1*1601, *1602 and *1604 gene products. DR16 is found in the Mediterranean at modest frequencies. DR16 is part of the older HLA-DR2 serotype group which also contains the similar HLA-DR15 antigens. Alleles Disease associations DR16 is associated with Chaga's cardiomyopathy, rheumatic heart disease, coronary artery ectasia, and chronic discoid lupus erythematosus. DRB1*1601 is associated with tuberculosis risk DRB1*1602: Juvenile rheumatoid arthritis, rheumatic heart disease,Takayasu arteritis
(SSc) & anti-DNA topoisomerase I (anti-topo I) antibody,
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Human Genome Organisation
The Human Genome Organisation (HUGO) is a non-profit organization founded in 1988. HUGO represents an international coordinating scientific body in response to initiatives such as the Human Genome Project. HUGO has four active committees, including the HUGO Gene Nomenclature Committee (HGNC), and the HUGO Committee on Ethics, Law and Society (CELS). History HUGO was established at the first meeting on genome mapping and sequencing at Cold Spring Harbor in 1988. The idea of starting the organization stemmed from South African biologist Sydney Brenner, who is best known for his significant contributions to work on the genetic code and other areas of molecular biology, as well as winning the 2002 Nobel Prize in Physiology or Medicine. A Founding Council was elected at the meeting with a total of 42 scientists from 17 different countries, with Victor A. McKusick serving as founding President. In 2016, HUGO was located at the EWHA Womans University in Seoul, South Korea. In 2020, the H ...
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European Bioinformatics Institute
The European Bioinformatics Institute (EMBL-EBI) is an Intergovernmental Organization (IGO) which, as part of the European Molecular Biology Laboratory (EMBL) family, focuses on research and services in bioinformatics. It is located on the Wellcome Genome Campus in Hinxton near Cambridge, and employs over 600 full-time equivalent (FTE) staff. Institute leaders such as Rolf Apweiler, Alex Bateman, Ewan Birney, and Guy Cochrane, an adviser on the National Genomics Data Center Scientific Advisory Board, serve as part of the international research network of the BIG Data Center at the Beijing Institute of Genomics. Additionally, the EMBL-EBI hosts training programs that teach scientists the fundamentals of the work with biological data and promote the plethora of bioinformatic tools available for their research, both EMBL-EBI and non-EMBL-EBI-based. Bioinformatic services One of the roles of the EMBL-EBI is to index and maintain biological data in a set of databases, including E ...
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Locus (genetics)
In genetics, a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association mapping, also known as "linkage disequilibrium mapping", is a method of ma ...
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Chromosome 6 (human)
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the major histocompatibility complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation. Genes The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins among other functions. Number of genes In 2003, the entirety of chromosome 6 was manually annotated for proteins, resulting in the identification of 1,557 genes, and 633 pseudogenes. The following are some of the newer gene count estimates. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varie ...
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HLA-DRB5
HLA class II histocompatibility antigen, DRB5 beta chain is a protein that in humans is encoded by the ''HLA-DRB5'' gene. Function The protein encoded by this gene belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), 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). Gene structure and polymorphisms The beta chain is approximately 26-28 kDa. It is encoded by 6 exons, exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described a ...
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