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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] See more...
Aliases for CPT2 Gene
Aliases for CPT2 Gene
External Ids for CPT2 Gene
- HGNC: 2330
- Entrez Gene: 1376
- Ensembl: ENSG00000157184
- OMIM: 600650
- UniProtKB: P23786
Previous HGNC Symbols for CPT2 Gene
- CPT1
Previous GeneCards Identifiers for CPT2 Gene
- GC01P053297
- GC01P052551
- GC01P053020
- GC01P053032
- GC01P053374
- GC01P053434
- GC01P053662
- GC01P051777
Summaries for CPT2 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 are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
GeneCards Summary for CPT2 Gene
CPT2 (Carnitine Palmitoyltransferase 2) is a Protein Coding gene. Diseases associated with CPT2 include Carnitine Palmitoyltransferase Ii Deficiency, Infantile and Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial LC-Fatty Acid Beta-Oxidation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CRAT.
Additional gene information for CPT2 Gene
- Monarch Initiative
- Search for CPT2 at DataMed
- Search for CPT2 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPT2 Gene
Genomics for CPT2 Gene
GeneHancer (GH) Regulatory Elements for CPT2 Gene
Promoters and enhancers for CPT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CPT2 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPT2
- Top Transcription factor binding sites by QIAGEN in the CPT2 gene promoter:
-
- AP-1
- AREB6
- c-Fos
- c-Jun
- FosB
- HTF
- Lhx3a
- LHX3b
- POU2F1
- POU2F1a
Genomic Locations for CPT2 Gene
Genomic Locations for CPT2 Gene
- chr1:53,196,429-53,214,197
- (GRCh38/hg38)
- Size:
- 17,769 bases
- Orientation:
- Plus strand
- chr1:53,662,101-53,679,869
- (GRCh37/hg19)
- Size:
- 17,769 bases
- Orientation:
- Plus strand
Genomic View for CPT2 Gene
Genes around CPT2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p32.3 by HGNC
- 1p32.3 by Entrez Gene
- 1p32.3 by Ensembl
CPT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CPT2 Gene
Proteins for CPT2 Gene
-
Protein details for CPT2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P23786-CPT2_HUMAN
- Recommended name:
- Carnitine O-palmitoyltransferase 2, mitochondrial
- Protein Accession:
- P23786
- B2R6S0
- Q5SW68
- Q9BQ26
Protein attributes for CPT2 Gene
- Size:
- 658 amino acids
- Molecular mass:
- 73777 Da
- Quaternary structure:
- No Data Available
Protein Expression for CPT2 Gene
Selected DME Specific Peptides for CPT2 Gene
- P23786:
-
- LGGFAPVV
- WIGCNVSSY
- FHLNPAKSDT
- AQLAFQM
- ATYESCSTAAFKHGRTET
- PWFDMYL
- FQMAFLRQYG
- KVDSAVFCLCLDDFP
- VNAYPLDMSQYFRLFN
- DRHLFAL
- SIVPTMHYQDSLPRLPIPKLEDT
- QAHLKYIL
- NKHTSYIS
- FDVLDQDGNIV
- VLNFNPF
- RWFDKSF
- RATNMTVSA
Post-translational modifications for CPT2 Gene
Other Protein References for CPT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CPT2 Antibody
- Creative Diagnostics Anti-CPT2 monoclonal antibody, clone 2D3BF7
- Creative Biolabs Recombinant Mouse Anti-Human CPT2 Antibody
- GeneTex Anti-CPT2 antibody [N1C1] and Anti-CPT2 antibody
-
Custom Antibody ServicesOriGene Antibodies for CPT2
- Novus Biologicals Antibodies for CPT2
-
Abcam antibodies for CPT2
- Invitrogen Antibodies for CPT2 (AFLGC-CPT2)
-
Boster Bio Antibodies for CPT2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CPT2
- Sino Biological Antibodies for CPT2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CPT2
- Origene Custom Protein Services for CPT2
-
Abcam proteins for CPT2
Assay Products
- Aviva Systems Biology CPT2 ELISA Kit (Human) (OKCD00869)
- antibodies-online: Show 8 available CPT2 Elisa Kits ranked by validation data
- Compare Top CPT2 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for CPT2
Domains & Families for CPT2 Gene
Gene Families for CPT2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CPT2 Gene
- Blocks:
-
- Acyltransferase ChoActase/COT/CPT
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CPT2 Gene
- GenScript: Design optimal peptide antigens:
-
- Carnitine palmitoyltransferase II (CPT2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P23786- Family:
-
- Belongs to the carnitine/choline acetyltransferase family.
Function for CPT2 Gene
Molecular function for CPT2 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(R)-carnitine + hexadecanoyl-CoA = CoA + O-hexadecanoyl-(R)-carnitine; Xref=Rhea:RHEA:12661, ChEBI:CHEBI:16347, ChEBI:CHEBI:17490, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379; EC=2.3.1.21;.
- GENATLAS Biochemistry:
- carnitine palmitoyltransferase of the inner mitochondrial membrane 2,liver isoform,malonyl CoA insensitive,converting palmitoylcarnitine into palmitoyl-CoA (palmitoyl-CoA shuttle system)
Enzyme Numbers (IUBMB) for CPT2 Gene
Phenotypes From GWAS Catalog for CPT2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004095 | carnitine O-palmitoyltransferase activity | EXP,NAS | 1988962 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
Phenotypes for CPT2 Gene
- MGI mutant phenotypes for CPT2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CPT2:
Animal Models for CPT2 Gene
- MGI Knock Outs for CPT2:
-
- Cpt2 Cpt2<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CPT2 - Select products 50% OFF >
- * CPT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CPT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CPT2
- genomics-online: gRNA clones - Search for available CPT2 gRNA products
- Overview of 134 available CPT2 gene related products
-
Recommended
-
Santa Cruz Biotechnology (SCBT) CRISPR for CPT2
miRNA for CPT2 Gene
- miRTarBase miRNAs that target CPT2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CPT2
- Browse OriGene Inhibitory RNA Products For CPT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPT2
- genomics-online: shRNA clones - Search for available CPT2 shRNA products
- Overview of 134 available CPT2 gene related products
-
Recommended
Clone Products
- Applied Biological Materials (abm): Clones for CPT2 - Select products 50% OFF >
- * CPT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CPT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CPT2
- genomics-online: cdna clones - Search for available CPT2 CDNA products
- Overview of 134 available CPT2 gene related products
-
Recommended
- orf clones - Search for available CPT2 ORF products
- Overview of 134 available CPT2 gene related products
-
Recommended
Cell Line Products
-
Horizon Cell Lines for CPT2
No data available for Transcription Factor Targets and HOMER Transcription for CPT2 Gene
Localization for CPT2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CPT2 Gene
- Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| peroxisome | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (4)
- Nucleoli (1)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for CPT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 2 | Fatty Acyl-CoA Biosynthesis | ||
| 3 | AMPK Enzyme Complex Pathway |
AMPK Enzyme Complex Pathway
-
|
|
| 4 | Metabolism |
.40
|
|
| 5 | Mitochondrial LC-Fatty Acid Beta-Oxidation | ||
Pathways by source for CPT2 Gene
4 BioSystems pathways for CPT2 Gene
4 KEGG pathways for CPT2 Gene
1 Qiagen pathway for CPT2 Gene
- AMPK Enzyme Complex Pathway
UniProtKB/Swiss-Prot P23786-CPT2_HUMAN
- Pathway: Lipid metabolism; fatty acid beta-oxidation.
Interacting Proteins for CPT2 Gene
GPS-Prot Interaction Network for CPT2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006635 | fatty acid beta-oxidation | IBA,IEA | -- |
| GO:0006853 | carnitine shuttle | TAS | -- |
No data available for SIGNOR curated interactions for CPT2 Gene
Drugs & Compounds for CPT2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Perhexiline | Approved, Investigational | Pharma | Target, inhibitor | 8 | ||
| L-Carnitine | Approved, Investigational | Pharma | Target | 0 | ||
| Glycerol | Approved, Investigational | Pharma | 208 | |||
| lauric acid | Approved, Experimental | Pharma | Agonist | 0 | ||
| Capric acid | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 4,8 Dimethylnonanoyl carnitine |
|
|
||||
| Caproic acid |
|
142-62-1 |
|
|||
| hexadecanoyl-CoA |
|
|
||||
| L-Palmitoylcarnitine |
|
2364-67-2 |
|
|||
| Palmityl-CoA |
|
1763-10-6 |
|
(1) ApexBio Compounds for CPT2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Etomoxir | (CPT)-1 and DGAT activity inhibitor | 124083-20-1 |
Transcripts for CPT2 Gene
mRNA/cDNA for CPT2 Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000371486 2699 bps (ENST00000371486.4)
- ENST00000468572 772 bps (ENST00000468572.2)
- ENST00000635862 2319 bps (ENST00000635862.1)
- ENST00000635888 2889 bps (ENST00000635888.1)
- ENST00000636239 2579 bps (ENST00000636239.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CPT2 - Select products 50% OFF >
- * CPT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CPT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CPT2
- genomics-online: gRNA clones - Search for available CPT2 gRNA products
- Overview of 134 available CPT2 gene related products
-
Recommended
-
Santa Cruz Biotechnology (SCBT) CRISPR for CPT2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CPT2
- Browse OriGene Inhibitory RNA Products For CPT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPT2
- genomics-online: shRNA clones - Search for available CPT2 shRNA products
- Overview of 134 available CPT2 gene related products
-
Recommended
Clone Products
- Applied Biological Materials (abm): Clones for CPT2 - Select products 50% OFF >
- * CPT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CPT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CPT2
- genomics-online: cdna clones - Search for available CPT2 CDNA products
- Overview of 134 available CPT2 gene related products
-
Recommended
- orf clones - Search for available CPT2 ORF products
- Overview of 134 available CPT2 gene related products
-
Recommended
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||
| SP2: | |||||||||||||||||
| SP3: | - | - |
Relevant External Links for CPT2 Gene
- GeneLoc Exon Structure for
- CPT2
Expression for CPT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Brain (Nervous System)
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for CPT2 Gene
This gene is overexpressed in Liver (x5.0).
This gene is overexpressed in Liver (7.4) and Nasal epithelium (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPT2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPT2
SOURCE GeneReport for Unigene cluster for CPT2 Gene:
Hs.713535Evidence on tissue expression from TISSUES for CPT2 Gene
- Liver(4.6)
- Skin(4.3)
- Muscle(2.8)
- Nervous system(2.6)
- Heart(2.3)
- Blood(2.1)
- Kidney(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CPT2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- ear
- eye
- face
- forehead
- head
- mouth
- nose
- outer ear
- skull
Thorax:
- breast
- diaphragm
- esophagus
- heart
- heart valve
- lung
Abdomen:
- adrenal gland
- biliary tract
- kidney
- liver
- stomach
Pelvis:
- ureter
- urinary bladder
- uterus
Limb:
- arm
- digit
- elbow
- finger
- foot
- hand
- knee
- lower limb
- nail
- toe
- upper limb
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for CPT2
-
OriGene qPCR primer pairs and template standards for CPT2
- genomics-online: primer clones - Search for available CPT2 Primer products
- Overview of 134 available CPT2 gene related products
-
Recommended
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for CPT2 Gene
Orthologs for CPT2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CPT2 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CPT2 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CPT2 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cpt2 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cpt2 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CPT2 31 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CPT2 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CPT2 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CPT2 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cpt2 30 |
|
||
| MGC76152 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | cg2107-prov 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cpt2 31 30 |
|
OneToOne | |
| -- 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008907 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG2107 31 32 30 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | cpt-2 31 30 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AER224W 30 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YAT1 33 31 30 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C04169g 30 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU01611 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for CPT2 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for CPT2 Gene
- ENSEMBL:
- Gene Tree for CPT2 (if available)
- TreeFam:
- Gene Tree for CPT2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CPT2: view image
Paralogs for CPT2 Gene
Variants for CPT2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPT2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 633182 | Likely Pathogenic: Carnitine palmitoyltransferase II deficiency | 53,211,240(+) | GCA/G | FRAMESHIFT_VARIANT | |
| 638340 | Uncertain Significance: Carnitine palmitoyltransferase II deficiency | 53,210,173(+) | C/T | MISSENSE_VARIANT | |
| 639194 | Uncertain Significance: Carnitine palmitoyltransferase II deficiency | 53,210,524(+) | C/T | MISSENSE_VARIANT | |
| 640019 | Uncertain Significance: Carnitine palmitoyltransferase II deficiency | 53,202,333(+) | C/G | MISSENSE_VARIANT | |
| 641699 | Uncertain Significance: Carnitine palmitoyltransferase II deficiency | 53,210,601(+) | T/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2422213 | CNV | duplication | 17116639 |
| nsv1001535 | CNV | gain | 25217958 |
| nsv829871 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.08;
87.64% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CPT2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT2 Gene
Disorders for CPT2 Gene
(38) MalaCards diseases for CPT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| carnitine palmitoyltransferase ii deficiency, infantile |
|
|
| carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced |
|
|
| carnitine palmitoyltransferase ii deficiency, lethal neonatal |
|
|
| encephalopathy, acute, infection-induced 4 |
|
|
| arthritis |
|
|
Search CPT2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CPT2_HUMAN- 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. {ECO:0000269 PubMed:10090476, ECO:0000269 PubMed:11477613, ECO:0000269 PubMed:14605500, ECO:0000269 PubMed:14615409, ECO:0000269 PubMed:1528846, ECO:0000269 PubMed:15489334, ECO:0000269 PubMed:15622536, ECO:0000269 PubMed:7711730, ECO:0000269 PubMed:8358442, ECO:0000269 PubMed:8651281, ECO:0000269 PubMed:9600456, ECO:0000269 PubMed:9758712, ECO:0000269 Ref.13, ECO:0000269 Ref.17}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:1528846, ECO:0000269 PubMed:8651281}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:11477613}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:15811315, ECO:0000269 PubMed:21697855}. Note=Disease susceptibility is associated with variations 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 (PubMed:21697855). {ECO:0000269 PubMed:21697855}.
Genatlas disease for CPT2 Gene
non ketotic hypoglycemia,liver failure,cardiomyopathy,peripheral myopathy in infant with severe outcome,and,in adult,myopathy with cramps,stiffness and myoglobinuria triggered by exercice,fasting and other metabolic stresses
Additional Disease Information for CPT2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for CPT2 Gene
- Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. (PMID: 18306170) Yao D … Kido H (Human mutation 2008) 3 4 23 54
- Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (PMID: 15622536) Ørngreen MC … Vissing J (Annals of neurology 2005) 3 4 23 54
- Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (PMID: 14615409) Sigauke E … Bennett MJ (Laboratory investigation; a journal of technical methods and pathology 2003) 3 4 23 54
- Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PMID: 14605500) Olpin SE … Pollitt RJ (Journal of inherited metabolic disease 2003) 3 4 23 54
- Antenatal presentation of carnitine palmitoyltransferase II deficiency. (PMID: 11477613) Elpeleg ON … Nadjari M (American journal of medical genetics 2001) 3 4 23 54
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