Interferon gamma receptor 2: Difference between revisions
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'''Interferon gamma receptor 2''' also known as | '''Interferon gamma receptor 2''' also known as IFN-γR2 is a [[protein]] which in humans is encoded by the ''IFNGR2'' [[gene]].<ref name="pmid3136170">{{cite journal |vauthors=Luster AD, Weinshank RL, Feinman R, Ravetch JV | title = Molecular and biochemical characterization of a novel gamma-interferon-inducible protein | journal = J. Biol. Chem. | volume = 263 | issue = 24 | pages = 12036–43 |date=August 1988 | pmid = 3136170 | doi = | url = http://www.jbc.org/cgi/reprint/263/24/12036 | issn = }}</ref> | ||
== Function == | == Function == | ||
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the [[interferon-gamma receptor|gamma interferon receptor]]. Human interferon-gamma receptor is a | This gene (''IFNGR2'') encodes the non-ligand-binding beta chain of the [[interferon-gamma receptor|gamma interferon receptor]]. Human interferon-gamma receptor is a multimer of two IFN-γR1 chains (encoded by [[interferon gamma receptor 1|IFNGR1]]) and two IFN-γR2 chains.<ref name="entrez">{{cite web | title = Entrez Gene: IFNGR2 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3460 | accessdate = }}</ref> | ||
== Clinical significance == | == Clinical significance == | ||
Defects in IFNGR2 are a cause of [[Dominance (genetics)#Autosomal recessive allele|autosomal recessive]] mendelian susceptibility to [[mycobacterium|mycobacterial]] disease (MSMD), also known as familial disseminated atypical mycobacterial infection.<ref name="pmid19084105">{{cite journal |vauthors=Al-Muhsen S, Casanova JL | title = The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases | journal = J. Allergy Clin. Immunol. | volume = 122 | issue = 6 | pages = 1043–51; quiz 1052–3 |date=December 2008 | pmid = 19084105 | doi = 10.1016/j.jaci.2008.10.037 | url = | issn = }}</ref> | Defects in ''IFNGR2'' are a cause of [[Dominance (genetics)#Autosomal recessive allele|autosomal recessive]] mendelian susceptibility to [[mycobacterium|mycobacterial]] disease (MSMD), also known as familial disseminated atypical mycobacterial infection.<ref name="pmid19084105">{{cite journal |vauthors=Al-Muhsen S, Casanova JL | title = The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases | journal = J. Allergy Clin. Immunol. | volume = 122 | issue = 6 | pages = 1043–51; quiz 1052–3 |date=December 2008 | pmid = 19084105 | doi = 10.1016/j.jaci.2008.10.037 | url = | issn = }}</ref> | ||
All known mutations in ''IFNGR2'' are collected in the ''IFNGR2'' mutation database <ref>https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=IFNGR2</ref>. | |||
== References == | == References == | ||
Latest revision as of 09:08, 9 January 2019
| 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
- ↑ 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.
- ↑ "Entrez Gene: IFNGR2".
- ↑ 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.
- ↑ 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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