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)

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

  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 18.0918
    Cell Significance Index: -12.1400
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 13.7017
    Cell Significance Index: 103.9000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 7.6933
    Cell Significance Index: 348.7100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.5886
    Cell Significance Index: -17.6500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 5.4319
    Cell Significance Index: 282.1700
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 5.1084
    Cell Significance Index: 19.5600
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 4.8257
    Cell Significance Index: 12.7300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 4.6366
    Cell Significance Index: 76.4100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 3.1444
    Cell Significance Index: 90.6000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 3.1288
    Cell Significance Index: 2825.0900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.7724
    Cell Significance Index: 25.5300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.6730
    Cell Significance Index: 57.9100
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 2.5337
    Cell Significance Index: 8.7000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.4481
    Cell Significance Index: 398.1600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 2.1530
    Cell Significance Index: 32.2600
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 1.9801
    Cell Significance Index: 21.4600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.8208
    Cell Significance Index: 361.3500
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 1.7891
    Cell Significance Index: 1.2800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.5291
    Cell Significance Index: 105.7500
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.4577
    Cell Significance Index: 16.9500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 1.4121
    Cell Significance Index: 21.2800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.3811
    Cell Significance Index: 23.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1988
    Cell Significance Index: 216.1200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.1917
    Cell Significance Index: 17.5900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.8342
    Cell Significance Index: 59.0000
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.7574
    Cell Significance Index: 5.3300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.6783
    Cell Significance Index: 21.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5497
    Cell Significance Index: 67.5900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3449
    Cell Significance Index: 12.1200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3309
    Cell Significance Index: 24.6600
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.3160
    Cell Significance Index: 1.8200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2912
    Cell Significance Index: 7.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2287
    Cell Significance Index: 4.8700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2179
    Cell Significance Index: 41.4700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1619
    Cell Significance Index: 16.0200
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.1114
    Cell Significance Index: 0.8100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1102
    Cell Significance Index: 48.7100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0710
    Cell Significance Index: 0.7400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0665
    Cell Significance Index: 7.7500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0561
    Cell Significance Index: 35.0100
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.0425
    Cell Significance Index: 0.1600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0310
    Cell Significance Index: 0.4800
  • Cell Name: urothelial cell (CL0000731)
    Fold Change: 0.0258
    Cell Significance Index: 0.1800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0068
    Cell Significance Index: 0.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0034
    Cell Significance Index: 0.1000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0005
    Cell Significance Index: -0.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0047
    Cell Significance Index: -3.5000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0053
    Cell Significance Index: -0.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0054
    Cell Significance Index: -0.9200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0054
    Cell Significance Index: -10.1100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0075
    Cell Significance Index: -4.2200
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: -0.0097
    Cell Significance Index: -0.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0130
    Cell Significance Index: -0.6600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0134
    Cell Significance Index: -10.1600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0134
    Cell Significance Index: -24.7300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0163
    Cell Significance Index: -25.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0185
    Cell Significance Index: -25.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0188
    Cell Significance Index: -10.2500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0215
    Cell Significance Index: -15.7300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0215
    Cell Significance Index: -4.5200
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.0274
    Cell Significance Index: -0.1700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0277
    Cell Significance Index: -17.5700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0308
    Cell Significance Index: -11.0500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0399
    Cell Significance Index: -18.1300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0431
    Cell Significance Index: -0.7300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0548
    Cell Significance Index: -10.9900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0579
    Cell Significance Index: -16.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0596
    Cell Significance Index: -8.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0610
    Cell Significance Index: -6.9900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0642
    Cell Significance Index: -7.3300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0906
    Cell Significance Index: -1.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0916
    Cell Significance Index: -12.5800
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0918
    Cell Significance Index: -0.9500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0977
    Cell Significance Index: -9.9900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1145
    Cell Significance Index: -7.0200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1449
    Cell Significance Index: -18.7200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1697
    Cell Significance Index: -11.4100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1738
    Cell Significance Index: -13.3400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1774
    Cell Significance Index: -11.1800
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.1825
    Cell Significance Index: -1.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1828
    Cell Significance Index: -4.8800
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: -0.1879
    Cell Significance Index: -1.6400
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: -0.1976
    Cell Significance Index: -1.1600
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.2096
    Cell Significance Index: -2.8700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2222
    Cell Significance Index: -4.6500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2269
    Cell Significance Index: -17.9700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2306
    Cell Significance Index: -4.5000
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.2438
    Cell Significance Index: -3.1600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2782
    Cell Significance Index: -17.1000
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.2858
    Cell Significance Index: -3.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2918
    Cell Significance Index: -15.2000
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.2929
    Cell Significance Index: -3.1300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2962
    Cell Significance Index: -13.1000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2971
    Cell Significance Index: -7.9600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2983
    Cell Significance Index: -10.4500
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.2999
    Cell Significance Index: -3.1200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3052
    Cell Significance Index: -17.1300
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.3144
    Cell Significance Index: -4.3600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3294
    Cell Significance Index: -15.3600
  • Cell Name: group 3 innate lymphoid cell, human (CL0001078)
    Fold Change: -0.3394
    Cell Significance Index: -3.1800

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 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 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 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 3 RefSeq 3 Rhea 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 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.