IRGM immunity related GTPase M
Gene ID: 345611, updated on 11-Apr-2024Gene type: protein coding
Also known as: IFI1; IBD19; IRGM1; LRG47; LRG-47
- See all available tests in GTR for this gene
- Go to complete Gene record for IRGM
- Go to Variation Viewer for IRGM variants
Summary
This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. GeneReviews: Not available | |
| Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Inflammatory bowel disease 19 | See labs |
| Mycobacterium tuberculosis, susceptibility to | See labs |
| Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. GeneReviews: Not available |
Genomic context
- Location:
- 5q33.1
- Sequence:
- Chromosome: 5; NC_000005.10 (150846521..150902402)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IRGM variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IRGM database
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.