Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1376
Gene name Gene Name - the full gene name approved by the HGNC.	Carnitine palmitoyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CPT2
Synonyms (NCBI Gene) Gene synonyms aliases	CPT1, CPTASE, IIAE4
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p32.3
Summary Summary of gene provided in NCBI Entrez 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 a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1799821	G>A	Benign, risk-factor	Coding sequence variant, missense variant
rs2229291	T>G	Likely-benign, benign, risk-factor	Coding sequence variant, missense variant
rs17848485	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs28936375	C>A	Pathogenic	Coding sequence variant, missense variant
rs28936376	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28936673	A>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs28936674	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs74315293	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315294	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315295	T>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315296	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315297	T>C	Uncertain-significance, benign, pathogenic, other	Missense variant, coding sequence variant
rs74315298	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315299	G>T	Pathogenic	Stop gained, coding sequence variant
rs74315300	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121918528	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs144658100	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147276580	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147953465	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148035648	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148110518	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs186044004	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs192779168	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199673903	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs201065226	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs368311455	C>T	Pathogenic	Missense variant, coding sequence variant
rs397509431	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs515726173	GAACCCTGCAAAAAGTGACACTATC>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe indel
rs515726174	T>C	Pathogenic	Coding sequence variant, missense variant
rs515726175	A>G	Pathogenic	Coding sequence variant, missense variant
rs515726176	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs515726177	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs515726178	C>-	Pathogenic	Coding sequence variant, stop gained
rs515726179	AGGCCTTAGAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503887	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs749895856	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs754363068	->GC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs754386565	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755395180	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755830520	T>A,C,G	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs756931329	A>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs760255368	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs761438840	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs762366252	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764849762	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs767004984	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771214714	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs786204647	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs917744011	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517473	T>G	Likely-pathogenic	Splice donor variant, intron variant
rs1057517477	CTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517492	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057517493	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517494	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517507	AGAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517510	->GGGAGCCCCCAGTCGGCCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517515	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517517	C>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1057517525	C>TA	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1057517729	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1131691330	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1131691925	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1187631754	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1195259425	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1229197873	C>-,CCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1238901632	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1317793581	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1469108369	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553168850	CCTCAGCGCCGGCTCCGGGCCCGGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169106	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169598	TTAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169629	->GTAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169666	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169716	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169720	AATA>TTG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169726	AC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169771	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553169787	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169813	->C	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553169973	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553170005	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553170029	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553170033	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557713988	G>A	Pathogenic	Splice acceptor variant
rs1557718075	CACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1557719455	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572385947	CA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1572385973	TGGTTGA>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT025385	hsa-miR-34a-5p	Proteomics	21566225
MIRT043910	hsa-miR-378a-3p	CLASH	23622248
MIRT440883	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT440883	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT907797	hsa-miR-129-5p	CLIP-seq
MIRT907798	hsa-miR-3672	CLIP-seq
MIRT907799	hsa-miR-4438	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT907801	hsa-miR-5095	CLIP-seq
MIRT907802	hsa-miR-720	CLIP-seq
MIRT1969097	hsa-miR-21	CLIP-seq
MIRT1969098	hsa-miR-2682	CLIP-seq
MIRT1969099	hsa-miR-3135	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT1969103	hsa-miR-449c	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT1969105	hsa-miR-4698	CLIP-seq
MIRT1969106	hsa-miR-4716-5p	CLIP-seq
MIRT1969107	hsa-miR-4731-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT1969108	hsa-miR-4781-3p	CLIP-seq
MIRT1969109	hsa-miR-590-5p	CLIP-seq
MIRT1969110	hsa-miR-940	CLIP-seq
MIRT2205091	hsa-miR-197	CLIP-seq
MIRT2205092	hsa-miR-3149	CLIP-seq
MIRT2205093	hsa-miR-3187-3p	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT2205094	hsa-miR-371-5p	CLIP-seq
MIRT2205095	hsa-miR-371b-5p	CLIP-seq
MIRT2205096	hsa-miR-411	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT2205097	hsa-miR-4435	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT2205098	hsa-miR-4701-5p	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT1969106	hsa-miR-4716-5p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT1969108	hsa-miR-4781-3p	CLIP-seq
MIRT2205102	hsa-miR-5096	CLIP-seq
MIRT2205103	hsa-miR-548s	CLIP-seq
MIRT2205104	hsa-miR-588	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq
MIRT2205106	hsa-miR-624	CLIP-seq
MIRT2447563	hsa-miR-4720-3p	CLIP-seq
MIRT2447564	hsa-miR-4804-3p	CLIP-seq
MIRT2447565	hsa-miR-544	CLIP-seq
MIRT2508431	hsa-miR-1343	CLIP-seq
MIRT2205092	hsa-miR-3149	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2508432	hsa-miR-4772-3p	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT2508433	hsa-miR-498	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq
MIRT2508431	hsa-miR-1343	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	20538056
GO:0001701	Process	In utero embryonic development	IEA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	EXP	7711730, 20538056
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IBA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IDA	20538056
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IEA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	NAS	1988962
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	1988962
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	20538056
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006853	Process	Carnitine shuttle	IEA
GO:0006853	Process	Carnitine shuttle	TAS
GO:0008458	Function	Carnitine O-octanoyltransferase activity	IEA
GO:0009437	Process	Carnitine metabolic process	IDA	20538056
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IDA	20538056
GO:0016746	Function	Acyltransferase activity	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	25578732

MIM	HGNC	e!Ensembl
600650	2330	ENSG00000157184

Protein

UniProt ID

P23786

Protein name

Carnitine O-palmitoyltransferase 2, mitochondrial (EC 2.3.1.21) (Carnitine palmitoyltransferase II) (CPT II)

Protein function

Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00755	Carn_acyltransf	49 → 648	Choline/Carnitine o-acyltransferase	Family

Sequence

MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDT
IRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMY
LSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNP
AKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWA
ELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLII
AKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT
DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHG
QLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLG
GFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS

Sequence length

658

Interactions

View interactions

	KEGG		Reactome
	Fatty acid degradation Fatty acid metabolism PPAR signaling pathway Thermogenesis Diabetic cardiomyopathy		PPARA activates gene expression Carnitine metabolism

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Carnitine Palmitoyl Transferase Deficiency	carnitine palmitoyl transferase ii deficiency, severe infantile form, carnitine palmitoyl transferase ii deficiency, myopathic form, Carnitine palmitoyltransferase II deficiency, carnitine palmitoyl transferase ii deficiency, neonatal form	rs1317793581, rs28936375, rs917744011, rs1057517515, rs727503887, rs201065226, rs1572385973, rs74315295, rs1057517525, rs767004984, rs1057517494, rs751557097, rs121918528, rs1553170029, rs1057517477 View all (62 more)	N/A
Encephalopathy	Encephalopathy, acute, infection-induced, susceptibility to, 4	rs1553169787, rs751557097, rs1553170029, rs1057517477, rs1057517515, rs368311455, rs1553169629, rs201966320, rs1057517729, rs752468216, rs762366252, rs28936674, rs1131691330, rs1187631754, rs1645359135, rs1553169720 View all (1 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Microcephaly	microcephaly	N/A	N/A	ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Kidney Injury	Associate	27034144, 31085678, 31770251
Adenocarcinoma of Lung	Associate	34229638
Amino Acid Metabolism Inborn Errors	Associate	28779239
Brain Diseases Metabolic	Associate	25781464
Carnitine palmitoyl transferase 2 deficiency	Associate	27034144, 30149802, 35572607
Carnitine palmitoyl transferase 2 deficiency	Inhibit	32129275, 35572607
Carnitine Palmitoyltransferase II Deficiency Infantile	Associate	25781464, 27629963, 30262761, 31770251, 34063237, 38168614
Carnitine Palmitoyltransferase II Deficiency Infantile	Stimulate	31085678
Carnitine Palmitoyltransferase II Deficiency Infantile	Inhibit	31770251
Chanarin Dorfman Syndrome	Associate	29271911, 30912279, 40225143
Colonic Neoplasms	Associate	36177002, 38179743
Colorectal Neoplasms	Associate	31893510, 32953885, 34740325, 37926998, 38186579
Colorectal Neoplasms	Inhibit	36195841
Death Sudden	Associate	19904456
Fetal Growth Retardation	Associate	37764661
Fever	Associate	15811315, 21816645
Glioblastoma	Associate	36838582
Guillain Barre Syndrome	Associate	34763483
Heart Diseases	Associate	26913919
Heart Failure	Associate	37950149
Hyper IgM Immunodeficiency Syndrome Type 1	Associate	35572607
Inflammation	Inhibit	23928362
Influenza Human	Associate	15811315, 21816645
Kidney Diseases	Associate	27034144
Kozlowski Tsuruta Taki syndrome	Associate	29271911
Liver Diseases	Associate	39840890
Mitochondrial Diseases	Associate	21378393
Mitral Valve Insufficiency	Associate	27250500
Muscular Diseases	Associate	29271911, 35572607
Myalgia	Associate	19904456, 27034144
Myoglobinuria	Associate	27034144
Neoplasms	Associate	36142793, 36177002, 36195841, 37543674
Neoplasms	Inhibit	37926998
Obesity	Associate	33185172, 36371454
Prader Willi Syndrome	Associate	30793526
Pre Eclampsia	Associate	37764661
Pulmonary Edema	Associate	33166306
Rhabdomyolysis	Associate	19904456, 31085678, 31770251, 32978841
Schmid Fraccaro syndrome	Associate	26913919
Smooth Muscle Tumor	Associate	33833033
Status Asthmaticus	Associate	33833033
Urinary Bladder Neoplasms	Associate	27189278
VLCAD deficiency	Associate	21378393

CPT2 (carnitine palmitoyltransferase 2)