Details for: HMGCS2

Gene ID: 3158

Symbol: HMGCS2

Ensembl ID: ENSG00000134240

Description: 3-hydroxy-3-methylglutaryl-CoA synthase 2

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 4
    Marker Score: 13,107
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.58
    Marker Score: 6,515
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.53
    Marker Score: 7,952
  • Cell Name: stem cell (CL0000034)
    Fold Change: 2.36
    Marker Score: 5,602
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.16
    Marker Score: 11,617
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 2.06
    Marker Score: 5,809
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.82
    Marker Score: 7,836
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.76
    Marker Score: 11,288
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.67
    Marker Score: 1,604
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.56
    Marker Score: 1,553
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.55
    Marker Score: 3,512
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.52
    Marker Score: 1,309
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.47
    Marker Score: 2,160
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.45
    Marker Score: 2,058
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.43
    Marker Score: 1,104
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.42
    Marker Score: 535
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.38
    Marker Score: 6,617
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.35
    Marker Score: 8,604
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.27
    Marker Score: 308
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.26
    Marker Score: 247
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.05
    Marker Score: 441
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251,798
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.01
    Marker Score: 687
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,815
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,040
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.96
    Marker Score: 277
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.96
    Marker Score: 1,590
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1,548
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,353
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,738
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.88
    Marker Score: 942
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: epithelial fate stem cell (CL0000036)
    Fold Change: 0.87
    Marker Score: 249
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 315
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.78
    Marker Score: 565
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.76
    Marker Score: 3,183
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.75
    Marker Score: 151
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.75
    Marker Score: 185
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 676
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 469
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.68
    Marker Score: 397
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.64
    Marker Score: 242
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.59
    Marker Score: 9,170
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.56
    Marker Score: 174
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.56
    Marker Score: 147
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 441
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.54
    Marker Score: 7,243
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.54
    Marker Score: 317
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.51
    Marker Score: 236
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.51
    Marker Score: 340
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.49
    Marker Score: 185
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.49
    Marker Score: 205
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.49
    Marker Score: 107
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.49
    Marker Score: 134
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.49
    Marker Score: 487
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.46
    Marker Score: 322
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 276
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.45
    Marker Score: 1,721
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.44
    Marker Score: 684
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.43
    Marker Score: 113
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.43
    Marker Score: 210
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.42
    Marker Score: 181
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.41
    Marker Score: 362
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.4
    Marker Score: 951
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.4
    Marker Score: 426
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.4
    Marker Score: 757
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.39
    Marker Score: 434
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.37
    Marker Score: 199
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.37
    Marker Score: 101
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.37
    Marker Score: 110
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.36
    Marker Score: 96
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.36
    Marker Score: 186
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.36
    Marker Score: 84
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.34
    Marker Score: 210
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.33
    Marker Score: 661
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.32
    Marker Score: 93
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.3
    Marker Score: 324
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.3
    Marker Score: 234
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.29
    Marker Score: 536
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.28
    Marker Score: 282
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.27
    Marker Score: 67
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 90
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.24
    Marker Score: 76
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.24
    Marker Score: 338
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.21
    Marker Score: 54
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.21
    Marker Score: 1,406
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.2
    Marker Score: 362
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.2
    Marker Score: 4,560
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.2
    Marker Score: 103
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.19
    Marker Score: 209
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.19
    Marker Score: 304
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.19
    Marker Score: 41
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.18
    Marker Score: 183

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HMGCS2 is a mitochondrial enzyme that catalyzes the condensation of acetoacetyl-CoA and acetyl-CoA to form 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA), a precursor to ketone bodies and cholesterol. The enzyme is highly expressed in various tissues, including the liver, kidney, colon, and intestine, where it plays a critical role in energy metabolism and lipid homeostasis. **Pathways and Functions:** HMGCS2 is involved in several key pathways, including: 1. **Ketone body biosynthesis:** HMGCS2 is essential for the production of ketone bodies, which serve as an alternative energy source for the brain and other tissues during periods of fasting or low glucose availability. 2. **Cholesterol biosynthesis:** HMGCS2 is also involved in the synthesis of cholesterol, which is essential for various cellular functions, including membrane structure and hormone production. 3. **Fatty acid biosynthesis:** HMGCS2 plays a role in the biosynthesis of fatty acids, which are essential for energy storage and lipid homeostasis. 4. **Mitochondrial function:** HMGCS2 is involved in the regulation of mitochondrial function and biogenesis, which is crucial for energy metabolism and cellular stress responses. **Clinical Significance:** Dysregulation of HMGCS2 has been implicated in various diseases, including: 1. **Diabetes:** Mutations in HMGCS2 have been associated with diabetes, highlighting the enzyme's role in glucose metabolism and energy homeostasis. 2. **Metabolic syndrome:** HMGCS2 has been shown to play a role in the development of metabolic syndrome, a cluster of conditions that increase the risk of developing type 2 diabetes and cardiovascular disease. 3. **Cancer:** HMGCS2 has been implicated in the development and progression of certain cancers, including breast and colon cancer. 4. **Neurological disorders:** HMGCS2 has been shown to play a role in the pathogenesis of neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, HMGCS2 is a critical enzyme involved in energy metabolism, lipid homeostasis, and cellular stress responses. Its dysregulation has been implicated in various diseases, highlighting the need for further research into the molecular mechanisms underlying HMGCS2 function and its role in human disease.

Genular Protein ID: 2924371138

Symbol: HMCS2_HUMAN

Name: Hydroxymethylglutaryl-CoA synthase, mitochondrial

UniProtKB Accession Codes:

P54868 B7Z8R3 D3Y5K6 Q5SZU2 Q6IBF4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 18 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 33 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7893153

Title: Molecular cloning and tissue expression of human mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.

PubMed ID: 7893153

DOI: 10.1006/abbi.1995.1178

PubMed ID: 9305755

Title: Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene.

PubMed ID: 9305755

DOI: 10.1016/s0378-1119(97)00067-x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7851882

Title: Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution.

PubMed ID: 7851882

DOI: 10.1006/geno.1994.1542

PubMed ID: 21952825

Title: Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

PubMed ID: 21952825

DOI: 10.1007/s11033-011-1270-8

PubMed ID: 16940161

Title: Ketogenic HMGCS2 Is a c-Myc target gene expressed in differentiated cells of human colonic epithelium and down-regulated in colon cancer.

PubMed ID: 16940161

DOI: 10.1158/1541-7786.mcr-05-0267

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 20346956

Title: Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.

PubMed ID: 20346956

DOI: 10.1016/j.jmb.2010.03.034

PubMed ID: 11479731

Title: Genetic basis of mitochondrial HMG-CoA synthase deficiency.

PubMed ID: 11479731

DOI: 10.1007/s004390100554

PubMed ID: 11228257

Title: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.

PubMed ID: 11228257

DOI: 10.1203/00006450-200103000-00005

PubMed ID: 12647205

Title: Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.

PubMed ID: 12647205

DOI: 10.1007/s00431-002-1110-x

PubMed ID: 16601895

Title: Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.

PubMed ID: 16601895

DOI: 10.1007/s10545-006-0214-2

PubMed ID: 23751782

Title: New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.

PubMed ID: 23751782

DOI: 10.1016/j.ejmg.2013.05.008

PubMed ID: 25511235

Title: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

PubMed ID: 25511235

DOI: 10.1007/s10545-014-9801-9

PubMed ID: 29597274

Title: Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

PubMed ID: 29597274

DOI: 10.3390/ijms19041010

Sequence Information:

  • Length: 508
  • Mass: 56635
  • Checksum: BD362D631F7C3C80
  • Sequence:
    • MQRLLTPVKR ILQLTRAVQE TSLTPARLLP VAHQRFSTAS AVPLAKTDTW PKDVGILALE 
VYFPAQYVDQ TDLEKYNNVE AGKYTVGLGQ TRMGFCSVQE DINSLCLTVV QRLMERIQLP 
WDSVGRLEVG TETIIDKSKA VKTVLMELFQ DSGNTDIEGI DTTNACYGGT ASLFNAANWM 
ESSSWDGRYA MVVCGDIAVY PSGNARPTGG AGAVAMLIGP KAPLALERGL RGTHMENVYD 
FYKPNLASEY PIVDGKLSIQ CYLRALDRCY TSYRKKIQNQ WKQAGSDRPF TLDDLQYMIF 
HTPFCKMVQK SLARLMFNDF LSASSDTQTS LYKGLEAFGG LKLEDTYTNK DLDKALLKAS 
QDMFDKKTKA SLYLSTHNGN MYTSSLYGCL ASLLSHHSAQ ELAGSRIGAF SYGSGLAASF 
FSFRVSQDAA PGSPLDKLVS STSDLPKRLA SRKCVSPEEF TEIMNQREQF YHKVNFSPPG 
DTNSLFPGTW YLERVDEQHR RKYARRPV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.