Interferon gamma receptor 2

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)[1] Band 21q22.11 Start 33,403,413 bp[1] End 33,479,348 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 C3.3|16 53.07 cM Start 91,343,960 bp[2] End 91,362,511 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 3460 15980 Ensembl ENSG00000159128 ENSG00000262795 ENSMUSG00000022965 UniProt P38484 n/a RefSeq (mRNA) NM_005534 NM_001329128 NM_008338 RefSeq (protein) NP_001316057 NP_005525 n/a Location (UCSC) Chr 21: 33.4 – 33.48 Mb Chr 16: 91.34 – 91.36 Mb PubMed search [3] [4]
Wikidata
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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

1. ENSG00000262795 GRCh38: Ensembl release 89: ENSG00000159128, ENSG00000262795 – Ensembl, May 2017
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.
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]}
6. "Entrez Gene: IFNGR2".
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".

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