Interferon gamma receptor 2 also known as IFN-γR2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
which in humans is encoded by the ''IFNGR2''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
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
Interferon gamma receptor 1 (IFNGR1) also known as CD119 (Cluster of Differentiation 119), is a protein that in humans is encoded by the ''IFNGR1'' gene.
Function
The gene ''IFNGR1'' encodes IFN-γR1, which is the ligand-binding chain (alpha) o ...
) and two IFN-γR2 chains.
Clinical significance
Defects in ''IFNGR2'' are a cause of
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
mendelian susceptibility to
mycobacterial
''Mycobacterium'' is a genus of over 190 species in the phylum Actinomycetota, assigned its own family, Mycobacteriaceae. This genus includes pathogens known to cause serious diseases in mammals, including tuberculosis ('' M. tuberculosis'') and ...
disease (MSMD), also known as familial disseminated atypical mycobacterial infection.
All known mutations in ''IFNGR2'' are collected in the ''IFNGR2'' mutation database.
References
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