CPT2 (carnitine palmitoyltransferase 2)

2008-05-01  

Identity

HGNC
CPT2
LOCATION
1p32.3
LOCUSID
1376
ALIAS
CPT1,CPTASE,IIAE4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1376
MIM: 600650
HGNC: 2330
Ensembl: ENSG00000157184

Variants:

dbSNP: 1376
ClinVar: 1376
TCGA: ENSG00000157184
COSMIC: CPT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157184ENST00000371486P23786
ENSG00000157184ENST00000371486A0A140VK13
ENSG00000157184ENST00000635862A0A1B0GWC0
ENSG00000157184ENST00000635888A0A1B0GUB8
ENSG00000157184ENST00000636239A0A1B0GUD9
ENSG00000157184ENST00000636867A0A1B0GTB8
ENSG00000157184ENST00000636891A0A1B0GV75
ENSG00000157184ENST00000636935A0A1B0GTM0
ENSG00000157184ENST00000637252A0A1B0GVF3
ENSG00000157184ENST00000638135A0A1B0GTL9

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
PPAR signaling pathwayKEGGko03320
Fatty acid degradationKEGGhsa00071
PPAR signaling pathwayKEGGhsa03320
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Import of palmitoyl-CoA into the mitochondrial matrixREACTOMER-HSA-200425
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383954222024Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.0
384284072024GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription.0
383954222024Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.0
384284072024GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription.0
379269982023SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer.0
379501492023Role of PPAR-related genes in chronic heart failure: evidence from large populations.0
379269982023SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer.0
379501492023Role of PPAR-related genes in chronic heart failure: evidence from large populations.0
351086392022Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer.16
361958412022Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer.3
351086392022Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer.16
361958412022Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer.3
328481042021Kinetics of Serum Carnitine Fractions in Patients with Chronic Kidney Disease Not on Dialysis.1
332070792021HRD1 inhibits fatty acid oxidation and tumorigenesis by ubiquitinating CPT2 in triple-negative breast cancer.14
340208662021Successful orthotopic heart transplantation in CPTII deficiency.0

Citation

Dessen P

CPT2 (carnitine palmitoyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50150/cpt2-(carnitine-palmitoyltransferase-2)