| 词条 | Interferon gamma receptor 2 |
| 释义 |
| Name = interferon gamma receptor 2 (interferon gamma transducer 1) | caption = | image = | width = | HGNCid = 5440 | Symbol = IFNGR2 | AltSymbols = IFNGT1 | EntrezGene = 3460 | OMIM = 147569 | RefSeq = NM_005534 | UniProt = P38484 | PDB = | ECnumber = | Chromosome = 21 | Arm = q | Band = 22.1 | LocusSupplementaryData = }}Interferon gamma receptor 2 also known as IFN-γR2 is a protein which in humans is encoded by the IFNGR2 gene.[1] FunctionThis gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a multimer of two IFN-γR1 chains (encoded by IFNGR1) and two IFN-γR2 chains.[2] Clinical significanceDefects in IFNGR2 are a cause of autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection.[3] All known mutations in IFNGR2 are collected in the IFNGR2 mutation database [4]. References1. ^{{cite journal |vauthors=Luster AD, Weinshank RL, Feinman R, Ravetch JV | title = Molecular and biochemical characterization of a novel gamma-interferon-inducible protein | journal = J. Biol. Chem. | volume = 263 | issue = 24 | pages = 12036–43 |date=August 1988 | pmid = 3136170 | doi = | url = http://www.jbc.org/cgi/reprint/263/24/12036 | issn = }} {{NLM content}}{{Cytokine receptors}}{{Cytokine receptor modulators}}{{gene-21-stub}}2. ^{{cite web | title = Entrez Gene: IFNGR2 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3460 | accessdate = }} 3. ^{{cite journal |vauthors=Al-Muhsen S, Casanova JL | title = The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases | journal = J. Allergy Clin. Immunol. | volume = 122 | issue = 6 | pages = 1043–51; quiz 1052–3 |date=December 2008 | pmid = 19084105 | doi = 10.1016/j.jaci.2008.10.037 | url = | issn = }} 4. ^https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=IFNGR2 |
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