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3158 HMGCS2

3158

HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition 3-hydroxy-3-methylglutaryl-CoA synthase 2

研究结论

Date Results Publications
2021-03-13 13:26:00 Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review. 32259399
2020-07-11 11:46:00 HMGCS2 expression is significantly reduced in colorectal cancer compared with healthy control, which is inversely correlated with microvessel density in colorectal cancer by immunohistochemistry analysis. What is more, knockdown HMGCS2 expression in HT-29 cells significantly contributed endothelial cell tube formation 31355161
2020-06-06 12:17:00 The results identified HMGCS2 as a downstream target of Wnt/beta-catenin/PPARgamma signaling in intestinal epithelial cells. And, Wnt/beta-catenin/PPARgamma signaling regulates intestinal cell differentiation, at least in part, through regulation of ketogenesis. 31546785
2020-04-11 10:25:00 we screened 46,XY DSD patients with gonadal dysgenesis and identified two unrelated patients with a deletion and a deleterious missense variant in HMGCS2 respectively. However, both variants were heterozygous, suggesting that HMGCS2 might not be the causative gene 31910233
2020-01-18 11:32:00 that HMGCS2 may be capable of predicting the risk of biochemical recurrence in prostate cancer patients after radical prostatectomy 31176575

名称对应

Type IDs
Gene
UniProtKB-ID: HMCS2_HUMAN, A0A140VJL2_HUMAN
UniprotKB: P54868, A0A140VJL2
UniParc: UPI000000DA7A, UPI00019151D6, UPI00035082D6
EMBL: GU433940, CR456850, U81858, X83618, U81853, U81855, U81851, HM005401, AL589734, U12789, BC044217, CH471122, U81854, U81852, U81856, AK303777, U81859, U81857, U12788
Ensembl: ENSG00000134240
KO: hsa:3158
Nucleutide sequences
EMBL-CDS: EAW56709.1, AAA92673.1, ADD21696.1, AAH44217.1, CAA58593.1, AAB72036.1, BAH14049.1, CAG33131.1, AAA92674.1, AEE60999.1
Ensembl_TRS: ENST00000369406, ENST00000544913
Protein sequencees
Ensembl_PRO: ENSP00000439495, ENSP00000358414
RefSeq: XP_011539615.1, NP_001159579.1, NP_005509.1
Others
UniRef100: UniRef100_P54868
UniRef90: UniRef90_P54868
UniRef50: UniRef50_P54868
UniGene: Hs.59889
CCDS: CCDS53353.1, CCDS905.1

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