ATG9B (autophagy related 9B)

2017-04-01  

Identity

HGNC
LOCATION
7q36.1
LOCUSID
ALIAS
APG9L2,NOS3AS,SONE

Other Information

Locus ID:

NCBI: 285973
MIM: 612205
HGNC: 21899
Ensembl: ENSG00000181652

Variants:

dbSNP: 285973
ClinVar: 285973
TCGA: ENSG00000181652
COSMIC: ATG9B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181652ENST00000469530Q674R7
ENSG00000181652ENST00000605952Q674R7
ENSG00000181652ENST00000639579Q674R7

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
Autophagy - animalKEGGhsa04140
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137
Autophagy - otherKEGGko04136
Autophagy - otherKEGGhsa04136

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
191979482009Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability.63
157557352005Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast.44
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.26
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13
204069642010Risk of meningioma and common variation in genes related to innate immunity.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.5
272650292016Aberrant methylation of ATG2B, ATG4D, ATG9A and ATG9B CpG island promoter is associated with decreased mRNA expression in sporadic breast carcinoma.5

Citation

Dessen P

ATG9B (autophagy related 9B)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56748/atg9b-(autophagy-related-9b)