Interferon-Gamma Receptor 2

Alternative Names

  • IFNGR2
  • IFGR2
  • Interferon-Gamma Transducer 1
  • IFNGT1
  • Interferon-Gamma Receptor, Accessory Factor for
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OMIM Number

147569

NCBI Gene ID

3460

Uniprot ID

P38484

Length

34,635 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Interferon gamma receptor 2

Molecular Mass

37806 Da

Amino Acid Count

337

Genomic Location

chr21:33,402,882-33,437,516

Gene Map Locus
21q22.11

Description

This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005534.3:c.123C>GUnited Arab EmiratesNC_000021.9:g.33414937C>GNG_007570.2:g.34946C>G; NM_005534.3:c.123C>G; NP_005525.2:p.Tyr41Ter
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