Details for: CPT2

Gene ID: 1376

Symbol: CPT2

Ensembl ID: ENSG00000157184

Description: carnitine palmitoyltransferase 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.82
    Marker Score: 3177
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.52
    Marker Score: 5990
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71763
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47988
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 485
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.94
    Marker Score: 14721
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2717
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4975
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.87
    Marker Score: 1253
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5257
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.86
    Marker Score: 1076.5
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.78
    Marker Score: 2461
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.77
    Marker Score: 3715
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.74
    Marker Score: 1506
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 557
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 288
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.72
    Marker Score: 358
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.72
    Marker Score: 1512
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.71
    Marker Score: 709
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2861
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 615
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.66
    Marker Score: 3968
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.65
    Marker Score: 4146
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.64
    Marker Score: 412
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.64
    Marker Score: 1513
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.61
    Marker Score: 491
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.59
    Marker Score: 563
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.59
    Marker Score: 489
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.58
    Marker Score: 848
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.57
    Marker Score: 133
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.56
    Marker Score: 162
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.56
    Marker Score: 4806
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.55
    Marker Score: 19140
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.54
    Marker Score: 1281
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.54
    Marker Score: 573
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.53
    Marker Score: 1426
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.53
    Marker Score: 360
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.53
    Marker Score: 487
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.53
    Marker Score: 568
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.53
    Marker Score: 873
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.52
    Marker Score: 538
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.5
    Marker Score: 337
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5
    Marker Score: 1142
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.5
    Marker Score: 3253
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.5
    Marker Score: 299
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.49
    Marker Score: 272
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.49
    Marker Score: 2097
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.48
    Marker Score: 109
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.48
    Marker Score: 128
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.48
    Marker Score: 208
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.47
    Marker Score: 1073
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.46
    Marker Score: 1648
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.46
    Marker Score: 3411
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.45
    Marker Score: 217
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.45
    Marker Score: 476
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.45
    Marker Score: 304
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.44
    Marker Score: 924
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.44
    Marker Score: 292
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.44
    Marker Score: 2821
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.44
    Marker Score: 298
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.44
    Marker Score: 304
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.43
    Marker Score: 163
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.43
    Marker Score: 181
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.43
    Marker Score: 11014
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.43
    Marker Score: 138
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.43
    Marker Score: 1080
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.42
    Marker Score: 103
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.42
    Marker Score: 175
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.42
    Marker Score: 559
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.42
    Marker Score: 281
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.42
    Marker Score: 169
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.42
    Marker Score: 294
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.42
    Marker Score: 1705
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.42
    Marker Score: 194
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.41
    Marker Score: 155
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.41
    Marker Score: 105
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.41
    Marker Score: 395
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.41
    Marker Score: 118
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.4
    Marker Score: 168
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.4
    Marker Score: 638
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.4
    Marker Score: 233
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.4
    Marker Score: 148
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.39
    Marker Score: 1352
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.39
    Marker Score: 116
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.39
    Marker Score: 619
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.38
    Marker Score: 6831
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.38
    Marker Score: 2333
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.38
    Marker Score: 589
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.38
    Marker Score: 286
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.38
    Marker Score: 208
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.38
    Marker Score: 325
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.37
    Marker Score: 117

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Other Information

## Summary The CPT2 gene is a carnitine palmitoyltransferase that is involved in the carnitine metabolic process. Carnitine is an important molecule that is involved in energy production, and its levels can be affected by a number of factors, including diet, exercise, and genetics. ## Key characteristics * The CPT2 gene is located on chromosome 15q26.1. * It is a single-exon gene that encodes a protein that is 544 amino acids long. * The protein is expressed in a variety of cell types, including germ cell, placental villous trophoblast, cerebral cortex GABAergic interneuron, forebrain radial glial cell, absorptive cell, intestinal crypt stem cell of colon, tuft cell of colon, cardiac muscle myoblast, and BEST4+ intestinal epithelial cell. * The protein is a key enzyme in the carnitine metabolic process, which is responsible for the transfer of carnitine between the mitochondria and the cytoplasm. ## Pathways and functions * The CPT2 gene is involved in a number of metabolic pathways, including the carnitine metabolic process, the fatty acid beta-oxidation pathway, and the metabolism of lipids. * In the carnitine metabolic process, CPT2 is responsible for the transfer of carnitine from the mitochondria to the cytoplasm. This process is essential for the production of ATP, which is the energy currency of cells. * CPT2 is also involved in the regulation of lipid metabolism. It is a key regulator of fatty acid uptake into cells, and it is also involved in the production of ketone bodies, which are molecules that can be used as an alternative energy source during periods of fasting. ## Clinical significance Mutations in the CPT2 gene have been linked to a number of human diseases, including hyperlipidemia, obesity, and type 2 diabetes. These diseases are characterized by high levels of cholesterol and triglycerides in the blood, and they are also associated with insulin resistance. CPT2 is a promising target for the treatment of these diseases, as it is a key enzyme in the carnitine metabolic process.

Genular Protein ID: 3740570257

Symbol: CPT2_HUMAN

Name: Carnitine palmitoyltransferase II

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1988962

Title: cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.

PubMed ID: 1988962

DOI: 10.1073/pnas.88.2.661

PubMed ID: 1961767

Title:

PubMed ID: 1961767

DOI: 10.1073/pnas.88.23.10981

PubMed ID: 7711730

Title: Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

PubMed ID: 7711730

DOI: 10.1093/hmg/4.1.19

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: 2174799

Title: Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver.

PubMed ID: 2174799

DOI: 10.1016/0014-5793(90)81354-q

PubMed ID: 20538056

Title: Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.

PubMed ID: 20538056

DOI: 10.1016/j.bbadis.2010.06.002

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 1528846

Title: Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

PubMed ID: 1528846

DOI: 10.1073/pnas.89.18.8429

PubMed ID: 8358442

Title: Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

PubMed ID: 8358442

DOI: 10.1038/ng0793-314

PubMed ID: 8651281

Title: Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

PubMed ID: 8651281

PubMed ID: 9600456

Title: Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

PubMed ID: 9600456

DOI: 10.1002/(sici)1098-1004(1998)11:5<377::aid-humu5>3.0.co;2-e

PubMed ID: 9758712

Title: Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

PubMed ID: 9758712

DOI: 10.1006/mgme.1998.2711

PubMed ID: 10090476

Title: Novel mutations associated with carnitine palmitoyltransferase II deficiency.

PubMed ID: 10090476

DOI: 10.1002/(sici)1098-1004(1999)13:3<210::aid-humu5>3.0.co;2-0

PubMed ID: 11477613

Title: Antenatal presentation of carnitine palmitoyltransferase II deficiency.

PubMed ID: 11477613

DOI: 10.1002/ajmg.1457

PubMed ID: 14605500

Title: Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

PubMed ID: 14605500

DOI: 10.1023/a:1025947930752

PubMed ID: 14615409

Title: Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

PubMed ID: 14615409

DOI: 10.1097/01.lab.0000098428.51765.83

PubMed ID: 15622536

Title: Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

PubMed ID: 15622536

DOI: 10.1002/ana.20320

PubMed ID: 15811315

Title: Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.

PubMed ID: 15811315

DOI: 10.1016/j.febslet.2005.02.050

PubMed ID: 17488105

Title: Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data.

PubMed ID: 17488105

DOI: 10.1021/pr0700908

PubMed ID: 18306170

Title: Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.

PubMed ID: 18306170

DOI: 10.1002/humu.20717

PubMed ID: 21697855

Title: Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.

PubMed ID: 21697855

DOI: 10.1038/jhg.2011.63

PubMed ID: 24780397

Title: Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency.

PubMed ID: 24780397

DOI: 10.1016/j.bbrc.2014.04.084

Sequence Information:

  • Length: 658
  • Mass: 73777
  • Checksum: 6444B75ACD57140F
  • Sequence:
  • MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP RLPIPKLEDT 
    IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV ALDKQNKHTS YISGPWFDMY 
    LSARDSVVLN FNPFMAFNPD PKSEYNDQLT RATNMTVSAI RFLKTLRAGL LEPEVFHLNP 
    AKSDTITFKR LIRFVPSSLS WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA 
    RHLLVLRKGN FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA 
    ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR WFDKSFNLII 
    AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ SQPATTDSTV TVQKLNFELT 
    DALKTGITAA KEKFDATMKT LTIDCVQFQR GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG 
    QTVATYESCS TAAFKHGRTE TIRPASVYTK RCSEAFVREP SRHSAGELQQ MMVECSKYHG 
    QLTKEAAMGQ GFDRHLFALR HLAAAKGIIL PELYLDPAYG QINHNVLSTS TLSSPAVNLG 
    GFAPVVSDGF GVGYAVHDNW IGCNVSSYPG RNAREFLQCV EKALEDMFDA LEGKSIKS

Genular Protein ID: 1419027865

Symbol: A0A1B0GTB8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16710414

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

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 635
  • Mass: 71182
  • Checksum: 6EA1E31090044BF8
  • Sequence:
  • MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP RLPIPKLEDT 
    IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV ALDKQNKHTS YISGPWFDMY 
    LSARDSVVLN FNPFMAFNPD PKSEYNDQLT RATNMTVSAI RFLKTLRAGL LEPEVFHLNP 
    AKSDTITFKR LIRFVPSSLS WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA 
    RHLLVLRKGN FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA 
    ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR WFDKSFNLII 
    AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ SQPATTDSTV TVQKLNFELT 
    DALKTGITAA KEKFDATMKT LTIDCVQFQR GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG 
    QTVATYESCS TAAFKHGRTE TIRPASVYTK RCSEAFVREP SRHSAGQGFD RHLFALRHLA 
    AAKGIILPEL YLDPAYGQIN HNVLSTSTLS SPAVNLGGFA PVVSDGFGVG YAVHDNWIGC 
    NVSSYPGRNA REFLQCVEKA LEDMFDALEG KSIKS

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. For the full schema, download it here.