IFNGR2

IFNGR2
Identifiers
Aliases	IFNGR2, AF-1, IFGR2, IFNGT1, IMD28, interferon gamma receptor 2 (interferon gamma transducer 1), interferon gamma receptor 2
External IDs	OMIM: 147569; MGI: 107654; HomoloGene: 4041; GeneCards: IFNGR2; OMA:IFNGR2 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	33,479,348 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	91,362,511 bp
RNA expression pattern
	Top expressed in
	monocyte; ; blood; ; granulocyte; ; placenta; ; tibial nerve; ; appendix; ; rectum; ; gallbladder; ; spleen; ; subcutaneous adipose tissue;
	Top expressed in
	interventricular septum; ; granulocyte; ; duodenum; ; cardiac muscles; ; myocardium of ventricle; ; right ventricle; ; temporal muscle; ; knee joint; ; muscle of thigh; ; triceps brachii muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	interferon-gamma receptor activity; interleukin-10 receptor activity; cytokine receptor activity;
Cellular component	integral component of plasma membrane; membrane; endoplasmic reticulum membrane; cytoplasmic vesicle; Golgi membrane; cytoplasmic vesicle membrane; cytoplasm; Golgi apparatus; integral component of membrane; plasma membrane; endoplasmic reticulum;
Biological process	response to virus; cell surface receptor signaling pathway; regulation of interferon-gamma-mediated signaling pathway; interferon-gamma-mediated signaling pathway; cytokine-mediated signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	3460
	15980
	ENSG00000159128; ENSG00000262795
	ENSMUSG00000022965
	P38484
	n/a
	NM_005534; NM_001329128
	NM_008338
	NP_001316057; NP_005525
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Interferon gamma receptor 2 also known as IFN-γR2 is a protein which in humans is encoded by the IFNGR2 gene.^[5]

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.^[6]

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.^[7] All known mutations in IFNGR2 are collected in the IFNGR2 mutation database.^[8]

References

^ ^a ^b ^c ENSG00000262795 GRCh38: Ensembl release 89: ENSG00000159128, ENSG00000262795 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022965 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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. doi:10.1016/S0021-9258(18)37889-X. PMID 3136170.^{[permanent dead link]}
^ "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.
^ "All genes - Global Variome shared LOVD".

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

This article on a gene on human chromosome 21 is a stub. You can help Wikipedia by expanding it.

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[refGRCh38Ensembl-1] ENSG00000262795 GRCh38: Ensembl release 89: ENSG00000159128, ENSG00000262795 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022965 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid3136170-5] 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. doi:10.1016/S0021-9258(18)37889-X. PMID 3136170.^{[permanent dead link]}

[entrez-6] "Entrez Gene: IFNGR2".

[pmid19084105-7] 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.

[8] "All genes - Global Variome shared LOVD".

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