CPT2 carnitine palmitoyltransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CPT2provided by HGNC
Official Full Name: carnitine palmitoyltransferase 2provided by HGNC
Primary source: HGNC:HGNC:2330
See related: Ensembl:ENSG00000157184 MIM:600650; AllianceGenome:HGNC:2330
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPT1; IIAE4; CPTASE
Summary: 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]
Expression: Ubiquitous expression in liver (RPKM 19.1), colon (RPKM 17.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (53196824..53214197)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (53078266..53095633)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (53662496..53679869)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription.
Title: GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription.
Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.
Title: Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.
SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer.
Title: SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer.
Role of PPAR-related genes in chronic heart failure: evidence from large populations.
Title: Role of PPAR-related genes in chronic heart failure: evidence from large populations.
Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer.
Title: Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer.
Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer.
Title: Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer.
Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Title: Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Kinetics of Serum Carnitine Fractions in Patients with Chronic Kidney Disease Not on Dialysis.
Title: Kinetics of Serum Carnitine Fractions in Patients with Chronic Kidney Disease Not on Dialysis.
HRD1 inhibits fatty acid oxidation and tumorigenesis by ubiquitinating CPT2 in triple-negative breast cancer.
Title: HRD1 inhibits fatty acid oxidation and tumorigenesis by ubiquitinating CPT2 in triple-negative breast cancer.
Successful orthotopic heart transplantation in CPTII deficiency.
Title: Successful orthotopic heart transplantation in CPTII deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Carnitine palmitoyl transferase II deficiency, myopathic form MedGen: C1833508 OMIM: 255110 GeneReviews: Carnitine Palmitoyltransferase II Deficiency	Compare labs
Carnitine palmitoyl transferase II deficiency, neonatal form MedGen: C1833518 OMIM: 608836 GeneReviews: Carnitine Palmitoyltransferase II Deficiency	Compare labs
Carnitine palmitoyl transferase II deficiency, severe infantile form MedGen: C1833511 OMIM: 600649 GeneReviews: Carnitine Palmitoyltransferase II Deficiency	Compare labs
Carnitine palmitoyltransferase II deficiency MedGen: C0342790 GeneReviews: Carnitine Palmitoyltransferase II Deficiency	Compare labs
Encephalopathy, acute, infection-induced, susceptibility to, 4 MedGen: C3280160 OMIM: 614212 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 envelope glycoprotein (gp160) contains two palmitoylated cysteine residues C764 and C837; removal of both palmitoylation sites results in the formation of virus with low levels of gp160 incorporation, as well as a decrease in viral infectivity	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99332 (e-PCR)
- UniSTS:84480

SHGC-153324 (e-PCR)
- UniSTS:177676

RH64517 (e-PCR)
- UniSTS:27149

SHGC-149721 (e-PCR)
- UniSTS:177178

SHGC-74836 (e-PCR)
- UniSTS:53363

D1S1890E (e-PCR)
- UniSTS:42356

G44359 (e-PCR)
- UniSTS:95146

SHGC-17418 (e-PCR)
- UniSTS:56561

GDB:196859 (e-PCR)
- UniSTS:155892

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables carnitine O-octanoyltransferase activity	IEA Inferred from Electronic Annotation more info
enables carnitine O-palmitoyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables carnitine O-palmitoyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carnitine O-palmitoyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables carnitine O-palmitoyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carnitine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in carnitine shuttle	TAS Traceable Author Statement more info
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: carnitine O-palmitoyltransferase 2, mitochondrial

Names: CPT II; carnitine palmitoyltransferase II; testicular secretory protein Li 13

NP_000089.1

EC 2.3.1.21

NP_001317518.1

EC 2.3.1.21

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008035.1 RefSeqGene

Range

5396..22769

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000098.3 → NP_000089.1 carnitine O-palmitoyltransferase 2, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_000089.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BU629852, U09648

Consensus CDS

CCDS575.1

UniProtKB/Swiss-Prot

B2R6S0, P23786, Q5SW68, Q9BQ26

UniProtKB/TrEMBL

A0A140VK13, A0A1B0GVF3

Related

ENSP00000360541.3, ENST00000371486.4

Conserved Domains (1) summary

pfam00755
Location:49 → 648

Carn_acyltransf; Choline/Carnitine o-acyltransferase
NM_001330589.2 → NP_001317518.1 carnitine O-palmitoyltransferase 2, mitochondrial isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL606760

Consensus CDS

CCDS81326.1

UniProtKB/TrEMBL

A0A1B0GTB8, A0A1B0GWC0

Related

ENSP00000489631.1, ENST00000636867.1

Conserved Domains (1) summary

pfam00755
Location:49 → 625

Carn_acyltransf; Choline/Carnitine o-acyltransferase