Interferon gamma receptor 2

interferon gamma receptor 2 (interferon gamma transducer 1)
Identifiers
Symbol	IFNGR2
Alt. symbols	IFNGT1
Entrez	3460
HUGO	5440
OMIM	147569
RefSeq	NM_005534
UniProt	P38484
Other data
Locus	Chr. 21 q22.1

Interferon gamma receptor 2 also known as IFNGR2 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 heterodimer of IFNGR1 and IFNGR2.^[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]

References

1. 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.
2. "Entrez Gene: IFNGR2".
3. 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.

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