Community hub
0 subscribers8 pages, 0 posts
Recent from talks
All channels
Be the first to start a discussion here.
Be the first to start a discussion here.
Be the first to start a discussion here.
Be the first to start a discussion here.
Contribute something
Welcome to the community hub built to collect knowledge and have discussions related to Interferon gamma receptor 2.
Nothing was collected or created yet.
Interferon gamma receptor 2
View on Wikipediafrom Wikipedia
| IFNGR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | IFNGR2, AF-1, IFGR2, IFNGT1, IMD28, interferon gamma receptor 2 (interferon gamma transducer 1), interferon gamma receptor 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 147569; MGI: 107654; HomoloGene: 4041; GeneCards: IFNGR2; OMA:IFNGR2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Interferon gamma receptor 2 also known as IFN-γR2 is a protein which in humans is encoded by the IFNGR2 gene.[5]
Function
[edit]This 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.[6]
Clinical significance
[edit]Defects in IFNGR2 are a cause of autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection.[7] All known mutations in IFNGR2 are collected in the IFNGR2 mutation database.[8]
References
[edit]- ^ a b c ENSG00000262795 GRCh38: Ensembl release 89: ENSG00000159128, ENSG00000262795 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022965 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Luster AD, Weinshank RL, Feinman R, Ravetch JV (August 1988). "Molecular and biochemical characterization of a novel gamma-interferon-inducible protein". J. Biol. Chem. 263 (24): 12036–43. doi:10.1016/S0021-9258(18)37889-X. PMID 3136170.[permanent dead link]
- ^ "Entrez Gene: IFNGR2".
- ^ Al-Muhsen S, Casanova JL (December 2008). "The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases". J. Allergy Clin. Immunol. 122 (6): 1043–51, quiz 1052–3. doi:10.1016/j.jaci.2008.10.037. PMID 19084105.
- ^ "All genes - Global Variome shared LOVD".
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 | This article on a gene on human chromosome 21 is a stub. You can help Wikipedia by adding missing information. |