CPT2

Summary

CPT2 (carnitine palmitoyltransferase 2, HGNC:2330) is a protein-coding gene on chromosome 1p32.3, encoding Carnitine O-palmitoyltransferase 2, mitochondrial (P23786). Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites.

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.

Source: NCBI Gene 1376 — RefSeq curated summary.

At a glance

• Gene–disease (curated): carnitine palmitoyltransferase II deficiency (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 15
• Clinical variants (ClinVar): 1,162 total — 96 pathogenic, 79 likely-pathogenic
• Phenotypes (HPO): 125
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000098

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2330
Approved symbol	CPT2
Name	carnitine palmitoyltransferase 2
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Aliases	CPTASE
Ensembl gene	ENSG00000157184
Ensembl biotype	protein_coding
OMIM	600650
Entrez	1376

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 9 protein_coding, 3 retained_intron, 3 nonsense_mediated_decay

ENST00000371486, ENST00000468572, ENST00000635862, ENST00000635888, ENST00000636239, ENST00000636673, ENST00000636867, ENST00000636891, ENST00000636935, ENST00000637252, ENST00000637726, ENST00000638135, ENST00000873097, ENST00000873098, ENST00000948452

RefSeq mRNA: 2 — MANE Select: NM_000098 NM_000098, NM_001330589

CCDS: CCDS575, CCDS81326

Canonical transcript exons

ENST00000371486 — 5 exons

Exon	Start	End
ENSE00001064632	53202323	53202429
ENSE00001064633	53210015	53211319
ENSE00001411904	53213264	53214197
ENSE00001455338	53196824	53197095
ENSE00003680217	53200719	53200799

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 94.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.1584 / max 169.8402, expressed in 1816 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2913	22.9173	1816
2912	0.2412	92

Top tissues by expression

272 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	94.47	gold quality
jejunal mucosa	UBERON:0000399	94.18	gold quality
right lobe of liver	UBERON:0001114	93.37	gold quality
esophagus squamous epithelium	UBERON:0006920	92.90	gold quality
liver	UBERON:0002107	92.22	gold quality
rectum	UBERON:0001052	91.68	gold quality
gingival epithelium	UBERON:0001949	90.40	gold quality
epithelium of esophagus	UBERON:0001976	90.20	gold quality
right adrenal gland	UBERON:0001233	90.14	gold quality
palpebral conjunctiva	UBERON:0001812	90.09	gold quality
right adrenal gland cortex	UBERON:0035827	89.96	gold quality
adrenal tissue	UBERON:0018303	89.49	gold quality
duodenum	UBERON:0002114	88.90	gold quality
germinal epithelium of ovary	UBERON:0001304	88.76	gold quality
colonic mucosa	UBERON:0000317	88.68	gold quality
epithelium of nasopharynx	UBERON:0001951	88.62	silver quality
secondary oocyte	CL:0000655	88.53	gold quality
left adrenal gland	UBERON:0001234	88.40	gold quality
transverse colon	UBERON:0001157	88.33	gold quality
nephron tubule	UBERON:0001231	88.19	gold quality
heart left ventricle	UBERON:0002084	87.90	gold quality
adult mammalian kidney	UBERON:0000082	87.83	gold quality
mucosa of sigmoid colon	UBERON:0004993	87.77	gold quality
adrenal gland	UBERON:0002369	87.63	gold quality
cardiac ventricle	UBERON:0002082	87.48	gold quality
left adrenal gland cortex	UBERON:0035825	87.38	gold quality
tibia	UBERON:0000979	87.28	gold quality
gastrocnemius	UBERON:0001388	87.12	gold quality
amniotic fluid	UBERON:0000173	87.02	gold quality
adrenal cortex	UBERON:0001235	86.88	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.05
E-GEOD-99795	no	172.75
E-HCAD-6	no	84.78

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, NR2F1

miRNA regulators (miRDB)

27 targeting CPT2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-938	97.41	68.28	656
HSA-MIR-4435	95.90	65.47	1201
HSA-MIR-554	95.20	66.98	341
HSA-MIR-5588-3P	94.96	65.59	500

Literature-anchored findings (GeneRIF, showing 40)

• Human CPT1A, CPT1B, CPT2, CROT and CRAT are known to encode active carnitine acyltransferases. Earlier pfam annotations refer to the non-existing compound CARNITATE. In 2000 this has been changed to CARNITINE. (PMID:11001805)
• New allele (515del14)leads to a frameshift that results in a stop codon 15 codons upstream. (PMID:11855939)
• genetic CPT II deficiency is characterized by insulin resistance, which is not explained by increased intramyomellular lipids. Homozygote. (PMID:11994355)
• 5’-flanking region of this gene is transcriptionally active and binds PPARalpha , we characterized the peroxisome proliferator-responsive element in the proximal promoter of the CPT II gene, which appears to be a novel PPRE. (PMID:12408750)
• 3 described mutations (S113L, P50H, & F448L) & two novel mutations (M214T & Y479F)OF cpt2 were modeled. A structure could be identified anchoring the protein in the membrane. Only Y479F is located within this region. (PMID:12707442)
• Very high activity of CPT2 and VCLAD, involved in the metabolism of long-chain fatty acids. Fatty acid oxidation may play role in energy generation in placenta, and deficiency in may result in placental dysfunction and gestational complications. (PMID:12971426)
• These results indicate that mutation of CPT II patient not to increase fatty acid oxidation during exercise. And also suggest that single CPT2 gene mutations may exert a dominant-negative effect on the tetrameric CPT II protein. (PMID:15622536)
• The phenotype of muscle CPT II deficiency might be influenced by the underlying mutation,analysis of S113L ,P50H and Q413fs-F448L mutations (PMID:15642848)
• A novel variant of CPT II was found in a patient with rhabdomyolysis & acute renal failure: a deletion of cytosine & thymine at codon 408, resulting in a stop signal at 420, & an Arg631Cys mutation. The frame shift at 408 has never been described before. (PMID:15754283)
• A patient had an episode of acute renal failure with myoglobinuria, myalgias, and weakness. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. (PMID:16168441)
• In conclusion, the findings from this study indicate that exercise training alters the localization of FAT/CD36 and increases its association with CPT I, which may help augment fat oxidation. (PMID:16670153)
• Within the CPT2 gene there were identified 16 novel deasese-causing mutations. (PMID:16996287)
• acute overexpression of CPT I in muscle leads to a repartitioning of FAs away from esterification and toward oxidation and highlight the importance of CPT I in regulating muscle fatty acid metabolism. (PMID:17179390)
• Our data evidenced that R631C mutation is not exclusively detected in the infantile form but it may be present in a wider spectrum of CPT2 phenotypes. These findings suggest that other modulators may influence clinical severity of CPT2 deficiency. (PMID:17651973)
• We report a Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation causing myalgia and rhabdomyolysis. (PMID:17709715)
• our data expand the spectrum of CPT II mutations and help to evaluate possible correlations between genotypes and phenotypes (PMID:17936304)
• It was not possible to repair the CPT-2 gene under a variety of conditions, this approach is of little value until cellular DNA repair mechanisms are much better understood. (PMID:18024217)
• unstable CPT II variants with decreased enzymatic activity may bring mitochondrial fuel utilization below the phenotypic threshold during high fever, and thus may play an important role in development of brain edema of influenza-associated encephalopathy (PMID:18306170)
• study identified p.F383Y mutations in 6 of 7 Japanese patients with CPT II deficiency & 2 novel variants of the coding gene: p.Y408fsX420 & p.V605L; data suggest that the p.F383Y mutation is significant in Japanese patients with CPT II deficiency (PMID:18363739)
• Two mutations in the CPT2 gene were identified in lethal neonatal or severe infantile diseases. (PMID:18550408)
• The triheptanoin diet seems to be an effective therapy for adult-onset carnitine palmitoyltransferase II deficiency. (PMID:18645163)
• Patient with adult-onset carnitine palmitoyl transferase II deficiency was able to have a successful pregnancy outcomes after fertilization in vitro. (PMID:19362304)
• Case Report: Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. (PMID:19762733)
• We found a high frequency of the common p.Ser113Leu mutation, the recurrence of the rare p.Arg631Cys mutation , and identified four novel mutations, in patients with muscle type CPT II deficiency. (PMID:20810031)
• Results revealed that having at least one carnitine palmitoyl transferase II CIM allele is a risk factor for the onset of acute encephalopathy, regardless of its antecedent infections. (PMID:20934285)
• Analyzed potential rhabdomyolysis-susceptibility genes (RYR 1, CPT II, VLCAD and CYP 2D6) from autopsy samples of methamphetamine abusers; no obvious relationship between the genetic mutations observed in this study and rhabdomyolysis was seen. (PMID:20952238)
• the thermolabile F352C CPT II variant, found only in Japanese, might be one of the predisposing factors to trigger the pathomechanism of acute encephalopathy in the Japanese population (PMID:21277129)
• A homozygous mutation (c.534_558del25bpinsT) of CPT2 in a case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life. (PMID:21641254)
• Data demonstrated the thermolabile CPT-II variants in demonstrated the thermolabile CPT-II variants in patients with viral infection-associated encephalopathy in Chinese population. (PMID:21697855)
• Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency (PMID:21913903)
• CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders. (PMID:23322164)
• The present study shows that screening for second mutations in patients that are heterozygote for the common p.S113L is justified although rare symptomatic heterozygotes. (PMID:23475205)
• The homozygous genotype (AA) of CPT2 variant V368I had significantly less blood carnitine in acute myocardial infarction patients. (PMID:23566841)
• The F352C CPT2 variant might be a genetic risk factor for sudden unexpected death in infancy (PMID:23969168)
• The data indicate that within the muscle form of CPT II deficiency, the various genotypes have only marginal influence on the clinical and biochemical phenotype. (PMID:24398345)
• L-carnitine deficiency participates in the pathogenesis of endometrial cancer by means of a mechanism which is unrelated with obesity and increased amount of fat in human body. (PMID:25335471)
• The rs2229291 and rs1799821 variants in CPT II gene might be one of the predisposing factors of acute encephalitis. (PMID:25361188)
• CPT II deficiency induces an energy crisis of the fatty acid metabolic pathway. (PMID:25781464)
• CPT2 is active inside the mitochondrial matrix to recover acyl-CoA from a process generally known as the carnitine shuttle. This protein is expressed in a constitutive way in all cells and tissues. (PMID:26041663)
• polymorphism may be associated with severity of EV71 infection (PMID:26874509)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cpt2	ENSDARG00000038618
mus_musculus	Cpt2	ENSMUSG00000028607
rattus_norvegicus	Cpt2	ENSRNOG00000012443
drosophila_melanogaster	CPT2	FBGN0035383
caenorhabditis_elegans		WBGENE00011122

Paralogs (6): CROT (ENSG00000005469), CHAT (ENSG00000070748), CRAT (ENSG00000095321), CPT1A (ENSG00000110090), CPT1C (ENSG00000169169), CPT1B (ENSG00000205560)

Protein

Protein identifiers

Carnitine O-palmitoyltransferase 2, mitochondrial — P23786 (reviewed: P23786)

Alternative names: Carnitine palmitoyltransferase II

All UniProt accessions (10): P23786, A0A140VK13, A0A1B0GTB8, A0A1B0GTL9, A0A1B0GTM0, A0A1B0GUB8, A0A1B0GUD9, A0A1B0GV75, A0A1B0GVF3, A0A1B0GWC0

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites. Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters.

Subcellular location. Mitochondrion inner membrane.

Disease relevance. Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) [MIM:255110] An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death. The disease is caused by variants affecting the gene represented in this entry. Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI) [MIM:600649] An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry. Carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2DLN) [MIM:608836] An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive. The disease is caused by variants affecting the gene represented in this entry. Encephalopathy, acute, infection-induced, 4 (IIAE4) [MIM:614212] A severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder. Disease susceptibility is associated with variants affecting the gene represented in this entry. CPT2 polymorphic variants do not cause classical carnitine palmitoyltransferase 2 deficiency, and patients harboring any of them are asymptomatic most of the time. However, they are prone to viral infection (high fever)-related encephalopathy.

Activity regulation. Inhibited by trans-2-hexadecanoyl-CoA.

Pathway. Lipid metabolism; fatty acid beta-oxidation.

Similarity. Belongs to the carnitine/choline acetyltransferase family.

RefSeq proteins (2): NP_000089, NP_001317518 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000542	Carn_acyl_trans	Family
IPR023213	CAT-like_dom_sf	Homologous_superfamily
IPR039551	Cho/carn_acyl_trans_1_2	Domain
IPR042231	Cho/carn_acyl_trans_2	Homologous_superfamily
IPR042572	Carn_acyl_trans_N	Homologous_superfamily

Pfam: PF00755

Enzyme classification (BRENDA):

• EC 2.3.1.21 — carnitine O-palmitoyltransferase (BRENDA: 24 organisms, 112 substrates, 138 inhibitors, 206 Km, 16 kcat entries)

Substrate kinetics (BRENDA)

15 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-CARNITINE	0.0017–127	100
PALMITOYL-COA	0.0008–25.35	67
BUTYRYL-COA	0.0051–0.03	2
DECANOYL-COA	0.0009–0.017	2
HEXANOYL-COA	0.0018–0.152	2
L-PALMITOYLCARNITINE	0.123–0.14	2
LAUROYL-COA	0.011–0.013	2
MYRISTOYL-COA	0.0012–0.031	2
OCTANOYL-COA	0.0085–0.023	2
STEAROYL-COA	0.0017–0.018	2
ACETYL-COA	0.022	1
COA	0.0055	1
DODECANOYL-COA	0.004	1
L-OCTANOYLCARNITINE	1.139	1
TRANS-2-HEXADECENOYL-COA	0.0081	1

Catalyzed reactions (Rhea), 11 shown:

• (R)-carnitine + hexadecanoyl-CoA = O-hexadecanoyl-(R)-carnitine + CoA (RHEA:12661)
• octanoyl-CoA + (R)-carnitine = O-octanoyl-(R)-carnitine + CoA (RHEA:17177)
• dodecanoyl-CoA + (R)-carnitine = O-dodecanoyl-R-carnitine + CoA (RHEA:40279)
• decanoyl-CoA + (R)-carnitine = O-decanoyl-(R)-carnitine + CoA (RHEA:44828)
• tetradecanoyl-CoA + (R)-carnitine = O-tetradecanoyl-(R)-carnitine + CoA (RHEA:44832)
• (R)-carnitine + octadecanoyl-CoA = O-octadecanoyl-(R)-carnitine + CoA (RHEA:44840)
• eicosanoyl-CoA + (R)-carnitine = O-eicosanoyl-(R)-carnitine + CoA (RHEA:44844)
• (9Z)-tetradecenoyl-CoA + (R)-carnitine = O-(9Z)-tetradecenoyl-(R)-carnitine + CoA (RHEA:44848)
• (5Z)-tetradecenoyl-CoA + (R)-carnitine = O-(5Z)-tetradecenoyl-(R)-carnitine + CoA (RHEA:44852)
• (R)-carnitine + (9Z)-octadecenoyl-CoA = O-(9Z)-octadecenoyl-(R)-carnitine + CoA (RHEA:44856)
• 4,8-dimethylnonanoyl-CoA + (R)-carnitine = O-4,8-dimethylnonanoyl-(R)-carnitine + CoA (RHEA:44860)

UniProt features (48 total): sequence variant 26, modified residue 12, binding site 4, topological domain 2, transit peptide 1, chain 1, intramembrane region 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P23786-F1	94.52	0.93

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 372 (proton acceptor)

Ligand- & substrate-binding residues (4): 452–464; 486; 488; 499

Post-translational modifications (12): 69, 79, 85, 239, 239, 305, 424, 439, 510, 510, 544, 544

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1989781	PPARA activates gene expression
R-HSA-200425	Carnitine shuttle

MSigDB gene sets: 439 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, BLALOCK_ALZHEIMERS_DISEASE_UP, GROSS_HYPOXIA_VIA_ELK3_UP, KEGG_PPAR_SIGNALING_PATHWAY, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS

GO Biological Process (8): long-chain fatty acid metabolic process (GO:0001676), in utero embryonic development (GO:0001701), fatty acid beta-oxidation (GO:0006635), carnitine shuttle (GO:0006853), carnitine metabolic process (GO:0009437), positive regulation of cold-induced thermogenesis (GO:0120162), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)

GO Molecular Function (5): carnitine O-palmitoyltransferase activity (GO:0004095), carnitine O-octanoyltransferase activity (GO:0008458), acyltransferase activity (GO:0016746), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (6): nucleoplasm (GO:0005654), nucleolus (GO:0005730), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Regulation of lipid metabolism by PPARalpha	1
Fatty acid metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
carnitine O-acyltransferase activity	2
nuclear lumen	2
cellular anatomical structure	2
fatty acid metabolic process	1
chordate embryonic development	1
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
long-chain fatty acid transport	1
intracellular lipid transport	1
fatty acid transmembrane transport	1
mitochondrial transmembrane transport	1
amino-acid betaine metabolic process	1
positive regulation of multicellular organismal process	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
O-palmitoyltransferase activity	1
transferase activity	1
binding	1
catalytic activity	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2142 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CPT2	SLC25A20	O43772	993
CPT2	ACADVL	P49748	935
CPT2	AASDH	Q4L235	921
CPT2	ACADS	P16219	899
CPT2	ACADL	P28330	809
CPT2	ACOX1	Q15067	789
CPT2	ACADM	P11310	783
CPT2	HADHA	P40939	764
CPT2	ACAA2	P42765	734
CPT2	PPARA	Q07869	727
CPT2	HADHB	P55084	682
CPT2	ACSL1	P33121	661
CPT2	FASN	P49327	656
CPT2	CD36	P16671	626
CPT2	HADH	Q16836	619

IntAct

72 interactions, top by confidence:

A	B	Type	Score
NDUFS3	NDUFS8	psi-mi:“MI:0914”(association)	0.730
NDUFA13	NDUFS8	psi-mi:“MI:0914”(association)	0.640
MCL1	PRKAB2	psi-mi:“MI:0914”(association)	0.640
MCUR1	CPT2	psi-mi:“MI:0915”(physical association)	0.590
CPT2	CYSRT1	psi-mi:“MI:0915”(physical association)	0.560
CPT2	OTX1	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	CPT2	psi-mi:“MI:0915”(physical association)	0.560
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
MRM3	NDUFS6	psi-mi:“MI:0914”(association)	0.530
GNAS	CPT2	psi-mi:“MI:0914”(association)	0.530
ATP5F1D	NDUFB5	psi-mi:“MI:0914”(association)	0.530
FAHD1	CLUH	psi-mi:“MI:0914”(association)	0.530
GPT2	CLPX	psi-mi:“MI:0914”(association)	0.530
SLC25A35	CPT2	psi-mi:“MI:0915”(physical association)	0.400
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ATP5F1D		psi-mi:“MI:0914”(association)	0.350
FAHD1	CLUH	psi-mi:“MI:0914”(association)	0.350
TMEM70	FDXR	psi-mi:“MI:0914”(association)	0.350
ARHGEF26	CPT2	psi-mi:“MI:0914”(association)	0.350
NMES1	NDUFS8	psi-mi:“MI:0914”(association)	0.350
MAIP1	TIMM44	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350

BioGRID (89): CPT2 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), CPT2 (Co-fractionation), CPT2 (Co-fractionation), CPT2 (Co-fractionation), CPT2 (Co-fractionation), CPT2 (Co-fractionation), CPT2 (Co-fractionation), CPT2 (Co-fractionation)

ESM2 similar proteins: A2RTX5, A2Z8S0, B2ZGJ1, F1LN46, O19094, P07668, P11035, P11466, P13222, P17569, P18886, P23786, P28329, P32198, P32738, P32756, P32796, P36859, P43155, P47934, P49696, P50416, P52825, P52826, P56523, P80235, P97742, Q03059, Q0V9S0, Q2KJB7, Q58DK1, Q5U3U3, Q60HG9, Q63704, Q68Y62, Q6P4X5, Q704S8, Q75G68, Q7ZXE1, Q80VY9

Diamond homologs: O19094, P11466, P18886, P23786, P43155, P47934, P52825, P80235, Q2KJB7, Q5U3U3, Q60HG9, Q6P4X5, Q704S8, Q7ZXE1, Q9UKG9, P32738, Q03059, Q58DK1, Q63704, B2ZGJ1, P07668, P13222, P28329, P32198, P32756, P32796, P50416, P52826, P97742, Q68Y62, Q90YJ9, Q924X2, Q92523, Q9DC50, Q00614, Q8HY46, Q8TCG5, F1LN46, Q8BGD5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SYVN1	“down-regulates quantity”	CPT2	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Complex I biogenesis	6	21.6×	5e-05
Respiratory electron transport	6	12.4×	4e-04
Mitochondrial protein degradation	5	12.4×	2e-03
Aerobic respiration and respiratory electron transport	6	11.6×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial respiratory chain complex I assembly	5	34.8×	3e-05
mitochondrial electron transport, NADH to ubiquinone	5	30.4×	5e-05
proton motive force-driven mitochondrial ATP synthesis	6	26.8×	2e-05
aerobic respiration	6	25.2×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

1162 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	96
Likely pathogenic	79
Uncertain significance	404
Likely benign	415
Benign	14

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	Pathogenic
1051185	NM_000098.3(CPT2):c.188G>T (p.Arg63Ile)	Pathogenic
1072348	NM_000098.3(CPT2):c.164_165del (p.Pro55fs)	Pathogenic
1073053	NM_000098.3(CPT2):c.1402C>T (p.Gln468Ter)	Pathogenic
1073732	NM_000098.3(CPT2):c.1394_1403del (p.Ala465fs)	Pathogenic
1075002	NM_000098.3(CPT2):c.603G>A (p.Trp201Ter)	Pathogenic
1076105	NM_000098.3(CPT2):c.745G>T (p.Gly249Ter)	Pathogenic
1076747	NC_000001.10:g.(?53662606)(53668111_?)del	Pathogenic
1322159	NM_000098.3(CPT2):c.202C>T (p.Gln68Ter)	Pathogenic
1358726	NM_000098.3(CPT2):c.451C>T (p.Arg151Trp)	Pathogenic
1367294	NM_000098.3(CPT2):c.135C>G (p.Tyr45Ter)	Pathogenic
1368422	NM_000098.3(CPT2):c.989del (p.Phe330fs)	Pathogenic
1373083	NM_000098.3(CPT2):c.320_321del (p.Lys107fs)	Pathogenic
1387016	NM_000098.3(CPT2):c.238del (p.Thr80fs)	Pathogenic
1397459	NM_000098.3(CPT2):c.747_748insTT (p.Asn250fs)	Pathogenic
1400802	NM_000098.3(CPT2):c.1293_1296del (p.Glu432fs)	Pathogenic
1441122	NM_000098.3(CPT2):c.721A>T (p.Arg241Ter)	Pathogenic
1451959	NM_000098.3(CPT2):c.1886del (p.Pro629fs)	Pathogenic
1452037	NM_000098.3(CPT2):c.522del (p.Val175fs)	Pathogenic
1454008	NM_000098.3(CPT2):c.1552_1553del (p.Arg518fs)	Pathogenic
1454984	NM_000098.3(CPT2):c.798dup (p.Ser267fs)	Pathogenic
1455105	NM_000098.3(CPT2):c.1798G>A (p.Gly600Arg)	Pathogenic
1455265	NM_000098.3(CPT2):c.1927del (p.Ala643fs)	Pathogenic
1458619	NM_000098.3(CPT2):c.39_46dup (p.Val16fs)	Pathogenic
1460313	NM_000098.3(CPT2):c.1087dup (p.Asp363fs)	Pathogenic
1685671	NM_000098.3(CPT2):c.534_539del (p.Leu178_Pro180delinsPhe)	Pathogenic
1697214	NM_000098.3(CPT2):c.1711C>A (p.Pro571Thr)	Pathogenic
2004652	NM_000098.3(CPT2):c.913_1172del (p.Lys305fs)	Pathogenic
2021599	NM_000098.3(CPT2):c.556_557del (p.Ile186fs)	Pathogenic
2058325	NM_000098.3(CPT2):c.1802dup (p.Phe602fs)	Pathogenic

SpliceAI

1041 predictions. Top by Δscore:

Variant	Effect	Δscore
1:53202320:TA:T	acceptor_loss	1.0000
1:53202321:A:AG	acceptor_gain	1.0000
1:53202321:A:T	acceptor_loss	1.0000
1:53202322:G:A	acceptor_loss	1.0000
1:53202322:G:GG	acceptor_gain	1.0000
1:53202419:C:G	donor_gain	1.0000
1:53202427:CGGG:C	donor_loss	1.0000
1:53202428:GG:G	donor_gain	1.0000
1:53202428:GGGTA:G	donor_loss	1.0000
1:53202429:GG:G	donor_gain	1.0000
1:53202429:GGTA:G	donor_loss	1.0000
1:53202430:G:GA	donor_loss	1.0000
1:53202431:TAG:T	donor_loss	1.0000
1:53211307:G:GT	donor_gain	1.0000
1:53213261:CA:C	acceptor_loss	1.0000
1:53213262:A:AC	acceptor_loss	1.0000
1:53213262:A:AG	acceptor_gain	1.0000
1:53213263:G:GG	acceptor_gain	1.0000
1:53213263:G:GT	acceptor_loss	1.0000
1:53213263:GGCCA:G	acceptor_gain	1.0000
1:53197091:CCCAG:C	donor_loss	0.9900
1:53197092:CCAG:C	donor_loss	0.9900
1:53197096:G:C	donor_loss	0.9900
1:53197097:T:A	donor_loss	0.9900
1:53200717:A:AG	acceptor_gain	0.9900
1:53200718:G:GG	acceptor_gain	0.9900
1:53202311:T:A	acceptor_gain	0.9900
1:53202314:AT:A	acceptor_gain	0.9900
1:53202321:AG:A	acceptor_gain	0.9900
1:53202322:GG:G	acceptor_gain	0.9900

AlphaMissense

4353 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:53202417:A:C	S110R	0.999
1:53202419:C:A	S110R	0.999
1:53202419:C:G	S110R	0.999
1:53210800:G:C	D376H	0.999
1:53210801:A:T	D376V	0.999
1:53210804:G:A	G377D	0.999
1:53211142:A:C	S490R	0.999
1:53211144:C:A	S490R	0.999
1:53211144:C:G	S490R	0.999
1:53213422:T:C	F602L	0.999
1:53213424:T:A	F602L	0.999
1:53213424:T:G	F602L	0.999
1:53210794:T:A	W374R	0.998
1:53210794:T:C	W374R	0.998
1:53210801:A:C	D376A	0.998
1:53211154:T:C	F494L	0.998
1:53211156:C:A	F494L	0.998
1:53211156:C:G	F494L	0.998
1:53211164:G:A	G497D	0.998
1:53211166:C:A	R498S	0.998
1:53211167:G:C	R498P	0.998
1:53213386:A:C	S590R	0.998
1:53213388:C:A	S590R	0.998
1:53213388:C:G	S590R	0.998
1:53210020:T:A	W116R	0.997
1:53210020:T:C	W116R	0.997
1:53210801:A:G	D376G	0.997
1:53211135:G:C	E487D	0.997
1:53211135:G:T	E487D	0.997
1:53211141:T:G	C489W	0.997

dbSNP variants (sampled 300 via entrez): RS1000064972 (1:53212162 T>C), RS1000301069 (1:53202057 T>C), RS1000396444 (1:53201688 C>T), RS1000628611 (1:53200051 A>G), RS1000843413 (1:53204560 G>A), RS1000863975 (1:53208400 T>C), RS1001073972 (1:53197832 C>T), RS1001180569 (1:53205511 A>G), RS1001245151 (1:53206761 C>A), RS1001275193 (1:53211549 G>A), RS1001275574 (1:53212205 C>T), RS1001848667 (1:53203188 TG>T), RS1001964371 (1:53196248 T>C), RS1002311505 (1:53198368 A>C,T), RS1002548202 (1:53213671 G>A)

Disease associations

OMIM: gene MIM:600650 | disease phenotypes: MIM:255110, MIM:600649, MIM:608836, MIM:614212

GenCC curated gene-disease

Disease	Classification	Inheritance
carnitine palmitoyltransferase II deficiency	Definitive	Autosomal recessive
carnitine palmitoyl transferase II deficiency, neonatal form	Strong	Autosomal recessive
carnitine palmitoyl transferase II deficiency, myopathic form	Supportive	Autosomal recessive
carnitine palmitoyl transferase II deficiency, severe infantile form	Supportive	Autosomal recessive
encephalopathy, acute, infection-induced, susceptibility to, 4	Limited	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
carnitine palmitoyltransferase II deficiency	Definitive	AR

Mondo (9): carnitine palmitoyltransferase II deficiency (MONDO:0015515), carnitine palmitoyl transferase II deficiency, myopathic form (MONDO:0009704), carnitine palmitoyl transferase II deficiency, severe infantile form (MONDO:0010914), carnitine palmitoyl transferase II deficiency, neonatal form (MONDO:0012136), encephalopathy, acute, infection-induced, susceptibility to, 4 (MONDO:0013633), flatfoot (MONDO:0005293), myopathy (MONDO:0005336), microcephaly (MONDO:0001149), congenital nervous system disorder (MONDO:0002320)

Orphanet (6): Carnitine palmitoyltransferase II deficiency (Orphanet:157), Carnitine palmitoyl transferase II deficiency, myopathic form (Orphanet:228302), Carnitine palmitoyl transferase II deficiency, severe infantile form (Orphanet:228305), Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308), Acute necrotizing encephalopathy of childhood (Orphanet:263524), Lateral facial cleft (Orphanet:141269)

HPO phenotypes

125 total (30 of 125 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000073	Ureteral duplication
HP:0000083	Renal insufficiency
HP:0000105	Enlarged kidney
HP:0000110	Renal dysplasia
HP:0000113	Polycystic kidney dysplasia
HP:0000126	Hydronephrosis
HP:0000189	Narrow palate
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000396	Overfolded helix
HP:0000414	Bulbous nose
HP:0000518	Cataract
HP:0000800	Cystic renal dysplasia
HP:0001182	Tapered finger
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001259	Coma
HP:0001274	Agenesis of corpus callosum
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001302	Pachygyria
HP:0001305	Dandy-Walker malformation

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST006951_29	Feeling hurt	8.000000e-09
GCST009698_115	Metabolite levels	2.000000e-09
GCST009698_117	Metabolite levels	2.000000e-18
GCST009735_23	Urinary metabolite modules (eigenmetabolites) in chronic kidney disease	2.000000e-10
GCST010696_8	Cortical thickness (min-P)	3.000000e-08
GCST010697_47	Cortical surface area (min-P)	7.000000e-14
GCST010698_52	Subcortical volume (min-P)	2.000000e-10
GCST010699_95	Brain morphology (min-P)	3.000000e-12
GCST010700_60	Cortical thickness (MOSTest)	1.000000e-09
GCST010701_101	Cortical surface area (MOSTest)	2.000000e-12
GCST010702_171	Subcortical volume (MOSTest)	3.000000e-16
GCST010703_172	Brain morphology (MOSTest)	4.000000e-11
GCST012020_32	Serum metabolite levels	1.000000e-11
GCST012020_68	Serum metabolite levels	9.000000e-12
GCST012020_69	Serum metabolite levels	4.000000e-12

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0009599	feeling emotionally hurt measurement
EFO:0005059	acylcarnitine measurement
EFO:0005116	urinary metabolite measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D005413	Flatfoot	C05.330.488.655.250; C05.330.495.681.250; C05.660.585.512.380.813.250; C16.131.621.585.512.500.681.250
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
C563462	Carnitine Palmitoyltransferase II Deficiency, Infantile (supp.)
C563461	Carnitine Palmitoyltransferase II Deficiency, Late-Onset (supp.)
C563463	Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (supp.)
C535589	Carnitine palmitoyl transferase 2 deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3238 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 5,105 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL75880	PERHEXILINE	4	5,064
CHEMBL1231506	TEGLICAR	2	41

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Carnitine palmitoyltransferases

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
compound 16 [PMID: 17585909]	Inhibition	6.68	pIC50
teglicar	Inhibition	6.62	pIC50

ChEMBL bioactivities

121 potent at pChembl≥5 of 278 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.85	IC50	140	nM	PALMITOYLAMINOCARNITINE
6.80	IC50	160	nM	TEGLICAR
6.80	Ki	160	nM	HEMIACYLCARNITINIUM
6.71	IC50	193.4	nM	CHEMBL3431801
6.54	IC50	285.7	nM	CHEMBL3431602
6.51	IC50	311.6	nM	CHEMBL3431916
6.49	IC50	325.7	nM	CHEMBL3431605
6.41	IC50	387.6	nM	CHEMBL3431735
6.34	IC50	452.8	nM	CHEMBL3431499
6.33	IC50	468.2	nM	CHEMBL3431736
6.33	IC50	472.5	nM	CHEMBL3431739
6.31	IC50	489.2	nM	CHEMBL3431802
6.29	IC50	507.2	nM	CHEMBL3431799
6.27	IC50	536.6	nM	CHEMBL3431478
6.27	IC50	540.3	nM	CHEMBL3431800
6.26	IC50	553.9	nM	CHEMBL3431915
6.26	IC50	544.5	nM	CHEMBL3431777
6.26	IC50	550.5	nM	CHEMBL3431803
6.24	IC50	579.4	nM	CHEMBL3431909
6.24	IC50	578.2	nM	CHEMBL3431914
6.23	IC50	591.1	nM	CHEMBL3431606
6.23	IC50	583.5	nM	CHEMBL3431898
6.23	IC50	585.9	nM	CHEMBL3431778
6.21	IC50	616.2	nM	CHEMBL3431462
6.20	IC50	634	nM	CHEMBL3431730
6.19	IC50	642.1	nM	CHEMBL3431737
6.17	IC50	672.1	nM	CHEMBL3431900
6.16	IC50	685.8	nM	CHEMBL3431899
6.16	IC50	698.3	nM	CHEMBL3431498
6.16	IC50	686.3	nM	CHEMBL3431850
6.15	IC50	701.2	nM	CHEMBL3431738
6.13	IC50	740	nM	CHEMBL2216779
6.13	IC50	739.5	nM	CHEMBL2216779
6.11	IC50	782.3	nM	CHEMBL3431894
6.01	IC50	966.3	nM	CHEMBL3431549
6.01	IC50	983	nM	CHEMBL3431731
5.99	IC50	1029	nM	CHEMBL3431774
5.97	IC50	1069	nM	CHEMBL3431628
5.90	IC50	1270	nM	CHEMBL3431811
5.87	IC50	1353	nM	CHEMBL3431720
5.87	IC50	1359	nM	CHEMBL3431843
5.86	IC50	1373	nM	CHEMBL3431548
5.84	IC50	1441	nM	CHEMBL3431929
5.82	IC50	1529	nM	CHEMBL3431912
5.82	IC50	1500	nM	CHEMBL3431642
5.81	IC50	1557	nM	CHEMBL3431775
5.80	IC50	1576	nM	CHEMBL3431793
5.79	IC50	1625	nM	CHEMBL3431733
5.76	IC50	1717	nM	CHEMBL3431913
5.74	IC50	1821	nM	CHEMBL3431520

PubChem BioAssay actives

28 with measured affinity, of 66 total; 25 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
[(6aR)-7-methyl-6,6a,8,9-tetrahydro-4H-indolo[4,3-fg]quinolin-9-yl]-[(2R,4R)-2,4-dimethylazetidin-1-yl]methanone	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.0060	uM
[(6aR)-7-methyl-6,6a,8,9-tetrahydro-4H-indolo[4,3-fg]quinolin-9-yl]-[(2S,4R)-2,4-dimethylazetidin-1-yl]methanone	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.0080	uM
(6aR,9R)-N,N-diethyl-7-methyl-6,6a,8,9-tetrahydro-4H-indolo[4,3-fg]quinoline-9-carboxamide	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.0270	uM
3-[2-(dimethylamino)ethyl]-1H-indol-4-ol	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.1012	uM
3-[(6aR,9S)-7-methyl-6,6a,8,9-tetrahydro-4H-indolo[4,3-fg]quinolin-9-yl]-1,1-diethylurea	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.1357	uM
(3R)-3-(hexadecanoylamino)-4-(trimethylazaniumyl)butanoate	719674: Inhibition of human CPT2	ic50	0.1400	uM
2-[(2R,6S)-6-hydroxy-4,4-dimethyl-6-pentadecylmorpholin-4-ium-2-yl]acetate	719712: Competitive inhibition of CPT2	ki	0.1600	uM
(3R)-3-(tetradecylcarbamoylamino)-4-(trimethylazaniumyl)butanoate	719674: Inhibition of human CPT2	ic50	0.1600	uM
2-(5-methoxy-1H-indol-3-yl)-N,N-dimethylethanamine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.4976	uM
1-(4-ethylsulfanyl-2,5-dimethoxyphenyl)propan-2-amine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.6183	uM
4-[[1-(5-chloro-2-methoxyphenyl)sulfonyl-2,3-dihydroindole-6-carbonyl]amino]benzoic acid	719674: Inhibition of human CPT2	ic50	0.7400	uM
1-(4-bromo-2,5-dimethoxyphenyl)propan-2-amine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.8082	uM
2-(6-fluoro-1H-indol-3-yl)-N,N-dimethylethanamine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	0.8668	uM
1-(4-ethylsulfanyl-2,5-dimethoxyphenyl)butan-2-amine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	1.2730	uM
2-(4-ethyl-2,5-dimethoxyphenyl)ethanamine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	1.3450	uM
N-[2-(1H-indol-3-yl)ethyl]-N-propylpropan-1-amine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	1.3610	uM
2-(4-ethylsulfanyl-2,5-dimethoxyphenyl)ethanamine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	1.8350	uM
N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-N-methylpropan-2-amine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	2.4700	uM
2-[4-[[1-(2-methoxy-5-methylphenyl)sulfonyl-3,4-dihydro-2H-quinoline-7-carbonyl]amino]phenyl]acetic acid	719674: Inhibition of human CPT2	ic50	2.8000	uM
N-[2-(1H-indol-3-yl)ethyl]-N-propan-2-ylpropan-2-amine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	3.3210	uM
(3R)-3-amino-4-(trimethylazaniumyl)butanoate	719674: Inhibition of human CPT2	ic50	3.9000	uM
2-[5-(2-naphthalen-2-yloxyethoxy)thiophen-2-yl]-2-oxoacetic acid	719674: Inhibition of human CPT2	ic50	4.7000	uM
2-phenoxy-1-[(2R)-2-(4-pyridin-2-yl-1,3-thiazol-2-yl)piperidin-1-yl]ethanone	719674: Inhibition of human CPT2	ic50	4.8000	uM
(3R)-3-[4-(3-hexoxyphenoxy)butylcarbamoylamino]-4-(trimethylazaniumyl)butanoate	719674: Inhibition of human CPT2	ic50	5.4000	uM
2-(4-bromo-2,5-dimethoxyphenyl)ethanamine	2060761: Ray2010 Assay 74 from Article : “Psychedelics and the human receptorome.”	ki	7.1160	uM

CTD chemical–gene interactions

105 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
perfluorooctanoic acid	increases expression	4
bisphenol A	decreases expression, increases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Bezafibrate	increases reaction, affects cotreatment, increases activity, increases abundance, increases expression	3
Oleic Acid	affects cotreatment, decreases expression, decreases reaction, increases expression	3
tris(1,3-dichloro-2-propyl)phosphate	increases expression, decreases expression	2
(+)-JQ1 compound	increases expression	2
Leflunomide	decreases expression	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Cisplatin	decreases expression, increases expression	2
Estradiol	affects cotreatment, decreases expression	2
Methyl Methanesulfonate	decreases expression, increases expression	2
Fenofibrate	increases expression, affects cotreatment	2
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	decreases expression	2
Palmitic Acid	affects cotreatment, decreases expression, decreases reaction	2
Particulate Matter	affects cotreatment, increases abundance, increases expression	2
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
quinone	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	increases expression	1
beta-thujone	affects cotreatment, increases expression	1
pirinixic acid	increases expression	1
tributyl phosphate	increases expression	1
tris(2,3-dibromopropyl)phosphate	increases expression	1
spathulenol	affects cotreatment, increases expression	1
tris(2-butoxyethyl) phosphate	decreases expression	1
linalool	affects cotreatment, increases expression	1

ChEMBL screening assays

12 unique, capped per target: 12 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2217026	Binding	Inhibition of human CPT2	Carnitine palmitoyltransferase (CPT) modulators: a medicinal chemistry perspective on 35 years of research. — J Med Chem

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1P6	Abcam HeLa CPT2 KO	Cancer cell line	Female
CVCL_L960	GM01763	Finite cell line	Male
CVCL_SJ68	HAP1 CPT2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

107 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02414087	PHASE4	UNKNOWN	Therapeutic Effects of Customized Insoles on Children With Flat Foot
NCT04564430	PHASE4	UNKNOWN	Clonidine for Tourniquet-related Pain in Children
NCT06211504	PHASE4	RECRUITING	Sinus Tarsi Implant as an Adjuvant Procedure to Medial Displacement Calcaneal Osteotomy in the Treatment of Mobile Adult Acquired Flatfoot Deformity
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT00983788	PHASE2	COMPLETED	Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects
NCT01379625	PHASE2	COMPLETED	Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder
NCT03918798	PHASE2	COMPLETED	The Efficacy and Safety of Chloroprocaine 1% and 2% in Pediatric Population
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT01494051	PHASE1/PHASE2	COMPLETED	High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT00527748	Not specified	TERMINATED	Foot and Ankle Range of Motion (Stretching) Apparatus
NCT01187693	Not specified	COMPLETED	The Outcome Effect of Shoe Lift for Individuals With Low Back Pain and Pronated Foot Due to Anatomical Leg Length Discrepancy
NCT01645267	Not specified	UNKNOWN	Calcaneal Neck Lengthening Osteotomy With Artificial Bone Graft
NCT02629731	Not specified	COMPLETED	Orthotic Dose Response Study
NCT02706327	Not specified	COMPLETED	Comparison of Two Different Insole Types in Painful Flexible Flatfoot
NCT02957812	Not specified	COMPLETED	The Effects of 12-week Custom-made Orthotic Intervention on the Structure and Function of the Foot of Healthy Young Adults During Gait Termination
NCT03039179	Not specified	COMPLETED	Polyurethane Foam on the Heel for Prevention in Children
NCT03040882	Not specified	COMPLETED	Cotton Sock in Pediatric Patients With Leg-foot Splint
NCT03151538	Not specified	COMPLETED	Effects on Pes Planus Exercise Training Mixed With Play on Pre-school Children
NCT03372642	Not specified	COMPLETED	Effectiveness of Subtalar Arthroereisis With Endorthesis for Pediatric Flexible Flat Foot
NCT03421665	Not specified	WITHDRAWN	Evaluation of the Titan 3-D™ Wedge System
NCT03812822	Not specified	COMPLETED	Describing the Effects of Insoles in Children With Increased Femoral Anteversion and Pes Planovalgus
NCT03843177	Not specified	COMPLETED	Association of Ingrown Toenails With Flat Foot, Hallux Abducto Valgus and Hallux Limitus
NCT04003870	Not specified	COMPLETED	Orthotics and Achilles Load in Runners
NCT04840017	Not specified	ENROLLING_BY_INVITATION	The Influence of Rehabilitation Program on Postural Control, Balance and Gait in Children With Flatfoot
NCT05018130	Not specified	UNKNOWN	Bio-Integrative Versus Metallic Screws for Calcaneus Osteotomies
NCT05128526	Not specified	COMPLETED	Short Foot Exercises With Respiratuar Exercises
NCT05381558	Not specified	UNKNOWN	Evaluation of the Role of Local Steroid Injection in Treatment of Idiopathic Spasmodic Flat Foot in Adolescent Patients
NCT05437042	Not specified	COMPLETED	Effect of Medial Wedge on Static Balance in Pronated Feet
NCT05616637	Not specified	COMPLETED	Investigation of Inter-rater and Test-retest Reliability of Y Balance Test in Individuals With Pes Planus
NCT05873166	Not specified	COMPLETED	Stabilometry After Pressure Release of the Flexor Digitorum Brevis Muscle Versus a Non-emission Laser: Clinical Trial
NCT05875415	Not specified	COMPLETED	Dynamic Plantar Pressures Changes After Dry Needling in Flexor Digitorum Brevis Versus Non Emission Laser
NCT05899855	Not specified	UNKNOWN	Foot Positions Affect Knee and Ankle Proprioception, Balance, Vertical Jump, and Muscle Activity in Individuals With Flexible and Rigid Flatfoot and Chronic Ankle Instability
NCT06037746	Not specified	COMPLETED	Immediate Effects of Myofascial Release Techniques on Balance in Young Adults With Pes Planus
NCT06045208	Not specified	COMPLETED	Foot and Lower Extremity Exercises in Adolescents With Pes Planovalgus
NCT06296524	Not specified	UNKNOWN	Effect of Footcore Exercises on Navicular Drop and Plantar Pressure Distribution in Asymptomatic Individual With Flatfoot
NCT06499545	Not specified	COMPLETED	Plantar Pressures After Pressure Release of the Flexor Digitorum Brevis Muscle Versus a Non-emission Laser.