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 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].

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.
  4. ↑ https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=IFNGR2

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


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