IFNGR1 interferon gamma receptor 1
Gene ID: 3459, updated on 10-Oct-2024Gene type: protein coding
Also known as: CD119; IFNGR; IMD27A; IMD27B
- See all available tests in GTR for this gene
- Go to complete Gene record for IFNGR1
- Go to Variation Viewer for IFNGR1 variants
Summary
This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | not available |
| Helicobacter pylori infection, susceptibility to | not available |
| Hepatitis B virus, susceptibility to | not available |
| Immunodeficiency 27A | not available |
| Mycobacterium tuberculosis, susceptibility to | not available |
Genomic context
- Location:
- 6q23.3
- Sequence:
- Chromosome: 6; NC_000006.12 (137197484..137219385, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IFNGR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IFNGR1 database
- IFNGR1base: Mutation registry for IFN-gamma 1-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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