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50 ACO2

50

ACO2

aconitase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition aconitase 2

研究结论

Date Results Publications
2020-12-12 13:29:00 Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. 33028849
2020-09-19 16:31:00 ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas. 32249333
2020-07-18 11:56:00 This work identifies ACO2 as a relevant gene in cancer metabolic rewiring of MCF-7 cells, promoting a different utilisation of pyruvate and revealing the potential metabolic vulnerability of ACO2-associated malignancies. 31819175
2020-06-13 11:55:00 Study showed that the expression of ACO2 was significantly increased in prostate cancer (PC) tissues and identified a positive correlation between ACO2 expression and the malignancy of prostate cancer. ACO2 protein expression and activity was higher in paclitaxel-resistant PC3 cells than in PTX-sensitive DU145 cells. These results indicate that ACO2 plays an important role in the development and drug resistance of PC. 30972978
2020-05-30 10:04:00 The study provides the most extensive cohort of patients and further delineates the clinical, radiological, biochemical, and molecular features of ACO2 deficiency. 30689204

名称对应

Type IDs
Synonymous ACONM, HEL-S-284, ICRD, OCA8, OPA9
Gene
UniProtKB-ID: ACON_HUMAN
UniprotKB: Q99798
UniParc: UPI000003CA3B
EMBL: BC014092, U87933, U87930, U87931, U87938, U87936, U87926, U87935, BC026196, AL008582, U80040, U87934, AL023553, CR456365, U87937, U87929, CR536568, U87928, U87927, U87939, U87932
Ensembl: ENSG00000100412
KO: hsa:50
Nucleutide sequences
EMBL-CDS: AAH14092.1, AAC39921.1, AAB38416.1, CAG30251.1, AAH26196.1, CAG38805.1
Ensembl_TRS: ENST00000216254
Protein sequencees
Ensembl_PRO: ENSP00000216254
RefSeq: NP_001089.1, XP_016884301.1, XP_024308018.1
Others
UniRef100: UniRef100_Q99798
UniRef90: UniRef90_Q99798
UniRef50: UniRef50_Q99798
UniGene: Hs.643610
CCDS: CCDS14017.1

全选

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