CPT2

Protein identityUniProt · HPA

UniProt accession

P23786

Gene

CPT2

Ensembl

ENSG00000157184

Chromosome

1

Canonical length

658 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli,Mitochondria

OverviewNCBI Gene

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

658 residues, UniProt reviewed canonical sequence.

>P23786|CPT2
     1  MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP RLPIPKLEDT
    61  IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV ALDKQNKHTS YISGPWFDMY
   121  LSARDSVVLN FNPFMAFNPD PKSEYNDQLT RATNMTVSAI RFLKTLRAGL LEPEVFHLNP
   181  AKSDTITFKR LIRFVPSSLS WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA
   241  RHLLVLRKGN FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA
   301  ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR WFDKSFNLII
   361  AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ SQPATTDSTV TVQKLNFELT
   421  DALKTGITAA KEKFDATMKT LTIDCVQFQR GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG
   481  QTVATYESCS TAAFKHGRTE TIRPASVYTK RCSEAFVREP SRHSAGELQQ MMVECSKYHG
   541  QLTKEAAMGQ GFDRHLFALR HLAAAKGIIL PELYLDPAYG QINHNVLSTS TLSSPAVNLG
   601  GFAPVVSDGF GVGYAVHDNW IGCNVSSYPG RNAREFLQCV EKALEDMFDA LEGKSIKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CPT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

85 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CPT2.

Disease | AllUniProt

Conditions CPT2 is implicated in, by any mechanism.

• Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) MIM:255110
• Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI) MIM:600649
• Carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2DLN) MIM:608836
• Encephalopathy, acute, infection-induced, 4 (IIAE4) MIM:614212

Disease | GeneticClinVar

226 pathogenic / likely-pathogenic of 1,151 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Carnitine palmitoyltransferase II deficiency
• Carnitine palmitoyl transferase II deficiency, severe infantile form
• Encephalopathy, acute, infection-induced, susceptibility to, 4
• Carnitine palmitoyl transferase II deficiency, myopathic form
• Carnitine palmitoyl transferase II deficiency, neonatal form

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.17

gnomAD pLI

0

gnomAD missense Z

0.4

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carnitine metabolic process
• carnitine shuttle
• fatty acid beta-oxidation
• in utero embryonic development
• long-chain fatty acid metabolic process
• positive regulation of cold-induced thermogenesis

Molecular functions

• acyltransferase activity
• carnitine O-octanoyltransferase activity
• carnitine O-palmitoyltransferase activity

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion
• nucleolus
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Acyltransferase ChoActase/COT/CPT
• Chloramphenicol acetyltransferase-like domain superfamily
• Choline/Carnitine o-acyltransferase, domain 1 and 2
• Choline/Carnitine o-acyltransferase, domain 2
• Carnitine o-acyltransferase, N-terminal
• Choline/Carnitine o-acyltransferase

KeywordsUniProt

• Acetylation
• Acyltransferase
• Fatty acid metabolism
• Lipid metabolism
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Transferase
• Transit peptide
• Transport

InteractionsUniProt · HPA

Protein binding partners of CPT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MCUR1