ATG16L1 (autophagy related 16 like 1)

2012-09-01  

Identity

HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
APG16L,ATG16A,ATG16L,IBD10,WDR30
FUSION GENES

Other Information

Locus ID:

NCBI: 55054
MIM: 610767
HGNC: 21498
Ensembl: ENSG00000085978

Variants:

dbSNP: 55054
ClinVar: 55054
TCGA: ENSG00000085978
COSMIC: ATG16L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000085978ENST00000347464Q676U5
ENSG00000085978ENST00000373525Q676U5
ENSG00000085978ENST00000392017Q676U5
ENSG00000085978ENST00000392018E7EVC7
ENSG00000085978ENST00000392020Q676U5
ENSG00000085978ENST00000392020A0A024R494
ENSG00000085978ENST00000392021F8WAF9
ENSG00000085978ENST00000417017C9J1B2
ENSG00000085978ENST00000419681C9JAY7
ENSG00000085978ENST00000431917C9J8C6
ENSG00000085978ENST00000444735C9JK97

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
Autophagy - animalKEGGhsa04140
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852
Autophagy - otherKEGGko04136
Autophagy - otherKEGGhsa04136

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10004adalimumabChemicalClinicalAnnotationassociatedPD25712183
PA443815Crohn DiseaseDiseaseClinicalAnnotationassociatedPD25712183

References

Pubmed IDYearTitleCitations
172006692007A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.575
172006692007A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.575
188499662008A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells.566
198984712010Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry.463
206398722010Plasma membrane contributes to the formation of pre-autophagosomal structures.330
208392412011Disease phenotype and genotype are associated with shifts in intestinal-associated microbiota in inflammatory bowel diseases.197
206371992010ATG16L1 and NOD2 interact in an autophagy-dependent antibacterial pathway implicated in Crohn's disease pathogenesis.140
184384062008Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.134
188528892008Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant.132
245531402014A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3.132

Citation

Dessen P

ATG16L1 (autophagy related 16 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52882/atg16l1