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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

which in humans is encoded by the ''IFNGR2''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

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.

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 Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

mendelian susceptibility to mycobacterial 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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