• Gene id: 1376

Gene Summary

• Gene Symbol: CPT2   Gene   UCSC   Ensembl
• Aliases: CPT1, CPTASE, IIAE4
• Gene name: carnitine palmitoyltransferase 2
• Alternate names: carnitine O-palmitoyltransferase 2, mitochondrial, CPT II, carnitine palmitoyltransferase II, testicular secretory protein Li 13,
• Gene location: 1p32.3 (53196823: 53214196)     Exons: 5     NC_000001.11
• Gene summary(Entrez): 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 a
• OMIM: 600650

Protein Summary

• Protein general information: P23786  
  • Name: Carnitine O palmitoyltransferase 2, mitochondrial (EC 2.3.1.21) (Carnitine palmitoyltransferase II) (CPT II)
  • Length: 658  
  • Mass: 73777
• Sequence:

  MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDG
  QFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLT
  RATNMTVSAIRFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTR
  LPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWA
  ELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWG
  DGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQR
  GGKEFLKKQKLSPDAVAQLAFQMAFLRQYGQTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSA
  GELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLG
  GFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS

• Structural information:
  • Interpro: IPR000542  IPR039551  IPR042232  IPR042231  
  • Prosite: PS00439 PS00440
  • STRING: ENSP00000360541
• Other Databases: GeneCards:  CPT2  Malacards:  CPT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004095	carnitine O-palmitoyltransferase activity	IBA	molecular function
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004095	carnitine O-palmitoyltransferase activity	IEA	molecular function
GO:0004095	carnitine O-palmitoyltransferase activity	EXP	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006853	carnitine shuttle	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0004095	carnitine O-palmitoyltransferase activity	NAS	molecular function
GO:0005743	mitochondrial inner membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa00071	Fatty acid degradation

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Carnitine palmitoyltransferase II deficiency	KEGG:H01982
Secondary hyperammonemia	KEGG:H01400
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Carnitine palmitoyltransferase II deficiency	KEGG:H01982
Muscular disease	PMID:10873395
Lipid metabolism disorder	PMID:1528846
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq