ATG16L1 autophagy related 16 like 1
Gene ID: 55054, updated on 7-Jul-2024Gene type: protein coding
Also known as: IBD10; WDR30; APG16L; ATG16A; ATG16L
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- Go to complete Gene record for ATG16L1
- Go to Variation Viewer for ATG16L1 variants
Summary
The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
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 | |
| A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. GeneReviews: Not available | |
| Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. GeneReviews: Not available | |
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. GeneReviews: Not available | |
| Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 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 10 | See labs |
Genomic context
- Location:
- 2q37.1
- Sequence:
- Chromosome: 2; NC_000002.12 (233251673..233295669)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATG16L1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ATG16L1 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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