Property Summary

NCBI Gene PubMed Count 23
PubMed Score 46.57
PubTator Score 63.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
nephrosclerosis -1.234 1.4e-02
psoriasis -2.200 2.4e-43
pancreatic ductal adenocarcinoma liver m... -3.075 4.2e-02
intraductal papillary-mucinous adenoma (... 2.800 1.6e-03
intraductal papillary-mucinous carcinoma... 2.400 8.0e-03
intraductal papillary-mucinous neoplasm ... 3.700 8.1e-04
colon cancer -4.100 4.0e-02
active Crohn's disease -3.262 1.8e-03
ulcerative colitis -6.000 7.6e-09
diabetes mellitus 1.200 7.5e-03
interstitial cystitis -4.300 1.2e-04
Breast cancer -2.700 1.1e-06

Protein-protein Interaction (2)

Gene RIF (14)

PMID Text
25929810 High expression of either HSD17B2 or HMGCS2 predicted poor susceptibility of rectal cancer to preoperative chemoradiotherapy.
25389781 FABP7 and HMGCS2 may have roles in apocrine differentiation categorizing apocrine carcinoma of the breast
23943793 In Fe-S cluster-deficient muscles, results show a dramatic up-regulation of the ketogenic enzyme HMGCS2 and the secreted protein FGF21 (fibroblast growth factor 21).
21952825 An alternative transcript of HMGCS2 carrying a deletion of exon 4, and two alternative transcripts of HMGCL with deletions of exons 5 and 6, and exons 5, 6 and 7, respectively, were detected.
21502324 Human HMGCS2 regulates mitochondrial fatty acid oxidation and FGF21 expression
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20549515 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20346956 The authors report high-resolution crystal structures of the human cytosolic (hHMGCS1) and mitochondrial (hHMGCS2) isoforms in binary product complexes.
19913121 Observational study of gene-disease association. (HuGE Navigator)
18660489 Observational study of gene-disease association. (HuGE Navigator)
18636124 Observational study of gene-disease association. (HuGE Navigator)
17387528 Observational study of gene-disease association. (HuGE Navigator)
16940161 Ketogenesis is an undesirable metabolic characteristic of the proliferating cell, which is down-regulated through c-Myc-mediated repression of the key metabolic gene HMGCS2.

AA Sequence

MQRLLTPVKRILQLTRAVQETSLTPARLLPVAHQRFSTASAVPLAKTDTWPKDVGILALEVYFPAQYVDQ      1 - 70
TDLEKYNNVEAGKYTVGLGQTRMGFCSVQEDINSLCLTVVQRLMERIQLPWDSVGRLEVGTETIIDKSKA     71 - 140
VKTVLMELFQDSGNTDIEGIDTTNACYGGTASLFNAANWMESSSWDGRYAMVVCGDIAVYPSGNARPTGG    141 - 210
AGAVAMLIGPKAPLALERGLRGTHMENVYDFYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKKIQNQ    211 - 280
WKQAGSDRPFTLDDLQYMIFHTPFCKMVQKSLARLMFNDFLSASSDTQTSLYKGLEAFGGLKLEDTYTNK    281 - 350
DLDKALLKASQDMFDKKTKASLYLSTHNGNMYTSSLYGCLASLLSHHSAQELAGSRIGAFSYGSGLAASF    351 - 420
FSFRVSQDAAPGSPLDKLVSSTSDLPKRLASRKCVSPEEFTEIMNQREQFYHKVNFSPPGDTNSLFPGTW    421 - 490
YLERVDEQHRRKYARRPV                                                        491 - 508
//

Text Mined References (26)

PMID Year Title
25929810 2015 The prognostic impact of lipid biosynthesis-associated markers, HSD17B2 and HMGCS2, in rectal cancer treated with neoadjuvant concurrent chemoradiotherapy.
25389781 2014 FABP7 and HMGCS2 are novel protein markers for apocrine differentiation categorizing apocrine carcinoma of the breast.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23943793 2014 Elevated FGF21 secretion, PGC-1? and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle.
21952825 2012 Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
21502324 2011 Human HMGCS2 regulates mitochondrial fatty acid oxidation and FGF21 expression in HepG2 cell line.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20549515 2010 Genome-wide searching of rare genetic variants in WTCCC data.
20346956 2010 Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
18636124 2008 Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
17387528 2007 Association study of cholesterol-related genes in Alzheimer's disease.
16940161 2006 Ketogenic HMGCS2 Is a c-Myc target gene expressed in differentiated cells of human colonic epithelium and down-regulated in colon cancer.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12647205 2003 Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11479731 2001 Genetic basis of mitochondrial HMG-CoA synthase deficiency.
11228257 2001 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.
9305755 1997 Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene.
7893153 1995 Molecular cloning and tissue expression of human mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.
7851882 1994 Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution.
6986618 1980 Physiological roles of ketone bodies as substrates and signals in mammalian tissues.