ATG16L1 (autophagy related 16 like 1)

2012-09-01  

Identity

HGNC
ATG16L1
LOCATION
2q37.1
LOCUSID
55054
ALIAS
APG16L,ATG16A,ATG16L,IBD10,WDR30
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10004adalimumabChemicalClinicalAnnotationassociatedPD25712183
PA443815Crohn DiseaseDiseaseClinicalAnnotationassociatedPD25712183

References

Pubmed IDYearTitleCitations
378375112024ATG16L1 rs2241880/T300A increases susceptibility to perianal Crohn's disease: An updated meta-analysis on inflammatory bowel disease risk and clinical outcomes.2
379911292024Association of ATG16L1 and ATG5 gene polymorphisms with susceptibility to hepatitis B virus infection and progression to HCC in central China.0
382272902024The V-ATPase-ATG16L1 axis recruits LRRK2 to facilitate the lysosomal stress response.2
382812932024Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer.0
385487222024Autophagy-enhancing ATG16L1 polymorphism is associated with improved clinical outcome and T-cell immunity in chronic HIV-1 infection.1
389940202024Lens autophagy protein ATG16L1: a potential target for cataract treatment.0
378375112024ATG16L1 rs2241880/T300A increases susceptibility to perianal Crohn's disease: An updated meta-analysis on inflammatory bowel disease risk and clinical outcomes.2
379911292024Association of ATG16L1 and ATG5 gene polymorphisms with susceptibility to hepatitis B virus infection and progression to HCC in central China.0
382272902024The V-ATPase-ATG16L1 axis recruits LRRK2 to facilitate the lysosomal stress response.2
382812932024Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer.0
385487222024Autophagy-enhancing ATG16L1 polymorphism is associated with improved clinical outcome and T-cell immunity in chronic HIV-1 infection.1
389940202024Lens autophagy protein ATG16L1: a potential target for cataract treatment.0
368048322023Association of PNPLA3 (rs738409) & TM6SF2 (rs58542926) and ATG16L1 (rs2241880) genetic variants with susceptibility to hepatocellular carcinoma in a group of Egyptian patients with HCV-induced liver cirrhosis.0
369584262023Detection of rare genetic variations in the promoter regions of the ATG16L gene in Parkinson's patients.1
373127432023Genetic Polymorphisms of NOD2 and ATG16L1 in Different Types of Digestive Tract Inflammation.0

Citation

Dessen P

ATG16L1 (autophagy related 16 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52882/js/_common.js