IFNGR2 interferon gamma receptor 2
Gene ID: 3460, updated on 18-Sep-2024Gene type: protein coding
Also known as: AF-1; IFGR2; IMD28; IFNGT1
- See all available tests in GTR for this gene
- Go to complete Gene record for IFNGR2
- Go to Variation Viewer for IFNGR2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. GeneReviews: Not available | |
| Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Immunodeficiency 28 | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 21q22.11
- Sequence:
- Chromosome: 21; NC_000021.9 (33402882..33437516)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IFNGR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IFNGR2 database
- IFNGR2base: Mutation registry for IFN-gamma 2-receptor deficiency
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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