Interferon gamma receptor 2
| IFNGR2 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt |
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| RefSeq (mRNA) | |||||||||
| RefSeq (protein) |
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| Location (UCSC) | Chr 21: 33.4 – 33.48 Mb | Chr 16: 91.34 – 91.36 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| 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.
- PMID 3136170.[permanent dead link]
- ^ "Entrez Gene: IFNGR2".
- 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.