Interferon gamma receptor 2 explained

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

Notes and References

1. Luster AD, Weinshank RL, Feinman R, Ravetch JV . Molecular and biochemical characterization of a novel gamma-interferon-inducible protein . J. Biol. Chem. . 263 . 24 . 12036–43 . August 1988 . 10.1016/S0021-9258(18)37889-X . 3136170 . free .
2. Web site: Entrez Gene: IFNGR2 .
3. Al-Muhsen S, Casanova JL . The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases . J. Allergy Clin. Immunol. . 122 . 6 . 1043–51; quiz 1052–3 . December 2008 . 19084105 . 10.1016/j.jaci.2008.10.037 . free .
4. Web site: All genes - Global Variome shared LOVD.