Interferon gamma receptor 2 also known as IFN-γR2 is a protein which in humans is encoded by the IFNGR2 gene.[5]

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.[6]

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.[7] All known mutations in IFNGR2 are collected in the IFNGR2 mutation database.[8]

References

  1. ^ a b c ENSG00000262795 GRCh38: Ensembl release 89: ENSG00000159128, ENSG00000262795 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022965 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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]
  6. ^ "Entrez Gene: IFNGR2".
  7. ^ 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.
  8. ^ "All genes - Global Variome shared LOVD".

This article incorporates text from the United States National Library of Medicine, which is in the public domain.