Interferon gamma receptor 2
Interferon gamma receptor 2 also known as IFN-γR2 is a protein which in humans is encoded by the IFNGR2 gene.[1]
| interferon gamma receptor 2 (interferon gamma transducer 1) | |
|---|---|
| Identifiers | |
| Symbol | IFNGR2 |
| Alt. symbols | IFNGT1 |
| NCBI gene | 3460 |
| HGNC | 5440 |
| OMIM | 147569 |
| RefSeq | NM_005534 |
| UniProt | P38484 |
| Other data | |
| Locus | Chr. 21 q22.1 |
Function
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.[2]
Clinical significance
Defects 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].
References
- 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. PMID 3136170.
- "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.
- https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=IFNGR2
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