AOPEP (aminopeptidase O (putative))

2017-10-01  

Identity

HGNC
AOPEP
LOCATION
9q22.32
LOCUSID
84909
ALIAS
AP-O,APO,C90RF3,C9orf3,ONPEP

Other Information

Locus ID:

NCBI: 84909
HGNC: 1361
Ensembl: ENSG00000148120

Variants:

dbSNP: 84909
ClinVar: 84909
TCGA: ENSG00000148120
COSMIC: AOPEP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148120ENST00000277198Q8N6M6
ENSG00000148120ENST00000297979Q8N6M6
ENSG00000148120ENST00000375315Q8N6M6
ENSG00000148120ENST00000424143A0A0A0MSU0
ENSG00000148120ENST00000427193X6RBX4
ENSG00000148120ENST00000428313A0A0A0MST7
ENSG00000148120ENST00000445181H0Y7M4
ENSG00000148120ENST00000451893H0Y7A8
ENSG00000148120ENST00000478473H0YCM2

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Metabolism of Angiotensinogen to AngiotensinsREACTOMER-HSA-2022377

References

Pubmed IDYearTitleCitations
369330312023Mutation screening of AOPEP variants in a large dystonia cohort.1
369330312023Mutation screening of AOPEP variants in a large dystonia cohort.1
345963012022Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.4
353063302022AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.3
345963012022Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.4
353063302022AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.3
346808772021Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings.5
346808772021Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings.5
329993962020An association study of C9orf3, a novel component of the renin-angiotensin system, and hypertension in diabetes.3
329993962020An association study of C9orf3, a novel component of the renin-angiotensin system, and hypertension in diabetes.3
280778012017Human papillomavirus type 16 E6 suppresses microRNA-23b expression in human cervical cancer cells through DNA methylation of the host gene C9orf3.21
280778012017Human papillomavirus type 16 E6 suppresses microRNA-23b expression in human cervical cancer cells through DNA methylation of the host gene C9orf3.21
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

AOPEP (aminopeptidase O (putative))

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57065