Interferon gamma receptor 2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
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[edit]

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[edit]

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[edit]

  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.