CPT2 Gene
protein-coding GIFtS: 67
GCID: GC01P053662
|
|
carnitine palmitoyltransferase 2(Previous name: carnitine palmitoyltransferase II )
(Previous symbol: CPT1)
| |
Aliases
for CPT2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Carnitine Palmitoyltransferase 21 2 | | CPT II2 3 | | Carnitine Palmitoyltransferase II1 2 3 | | EC 2.3.1.213 8 | | CPT11 2 3 | | IIAE42 | | CPTASE1 2 | | Carnitine O-Palmitoyltransferase 2, Mitochondrial2 |
Export aliases for CPT2 gene to outside databasesPrevious GC identifers: GC01P053297 GC01P052551 GC01P053020 GC01P053032 GC01P053374 GC01P053434 GC01P051777 |
Summaries
for CPT2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CPT2:
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 themitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders.(provided by RefSeq, Jul 2008)
Gene Wiki entry for CPT2 (Carnitine palmitoyltransferase II)
|
Genomic Views
for CPT2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CPT2 gene promoter:
c-Fos LHX3b/Lhx3b AP-1 HTF FosB AREB6 POU2F1 POU2F1a LHX3a/Lhx3a c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for CPT2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPT2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p32 Ensembl cytogenetic band: 1p32.3 HGNC cytogenetic band: 1p32CPT2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P053662: view genomic region
(about GC identifiers)
Start:
|
53,662,101 bp from pter |
End:
|
53,679,869 bp from pter |
Size:
|
17,769 bases |
Orientation:
|
plus strand |
|
Proteins
for CPT2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786 (See
protein sequence)Recommended Name: Carnitine O-palmitoyltransferase 2, mitochondrial precursor Size: 658 amino acids; 73777 Da
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Secondary accessions: B2R6S0 Q5SW68 Q9BQ26Explore the universe of human proteins at neXtProt for CPT2: NX_P23786
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P23786
4/17 DME Specific Peptides for CPT2 (P23786) (see all 17)
CPT2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000089.1
ENSEMBL proteins: ENSP00000360541 Reactome Protein details: P23786
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
CPT2 for ontologies About GeneDecksing
CPT2 Antibody Products:
Assay Products for CPT2: |
Protein
Domains /
Families
for CPT2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CPT2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P23786ProtoNet protein and cluster: P23786 1 Blocks protein family: IPB000542 Acyltransferase ChoActase/COT/CPT
UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786Similarity: Belongs to the carnitine/choline acetyltransferase family |
Function
for CPT2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786Catalytic activity: Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine Genatlas biochemistry entry for CPT2:carnitine palmitoyltransferase of the inner mitochondrial membrane 2,liver isoform,malonyl CoA insensitive,convertingpalmitoylcarnitine into palmitoyl-CoA (palmitoyl-CoA shuttle system)
Enzyme Number (IUBMB): EC 2.3.1.211 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CPT2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CPT2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CPT2 (NM_000098) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CPT2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004095 | carnitine O-palmitoyltransferase activity |
NAS | 1988962 |
CPT2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CPT2:
|
Pathways & Interactions
for CPT2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | | | 2 | Fatty Acid Beta Oxidation | | | 3 | Metabolism | | | 4 | mitochondrial L-carnitine shuttle pathway | | | 5 | Import of palmitoyl-CoA into the mitochondrial matrix | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CPT2
3  BioSystems Pathways for CPT2
5/7 
Reactome Pathways for CPT2 (see all 7)
2 
Kegg Pathways (Kegg details for CPT2):
UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786Pathway: Lipid metabolism; fatty acid beta-oxidation
CPT2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CPT2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/265 Interacting proteins for CPT2 (P237862, 3 ENSP000003605414) via UniProtKB, MINT, STRING, and/or I2D (see all 265)
About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006635 | fatty acid beta-oxidation |
NAS | -- | | GO:0006853 | carnitine shuttle |
TAS | -- | | GO:0044255 | cellular lipid metabolic process |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- | | GO:0046320 | regulation of fatty acid oxidation |
TAS | -- |
CPT2 for ontologies About GeneDecksing
|
Drugs & Compounds
for CPT2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CPT2 for compounds About GeneDecksing
 Browse Tocris compounds for CPT2
10/128 HMDB Compounds for CPT2 (see all 128) About this table
2 DrugBank Compounds for CPT2 About this table
10/29 Novoseek chemical compound relationships for CPT2 gene (see all 29) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| carnitine |
95.2 |
300 |
16636033 (4), 1999498 (3), 19335026 (3), 8201482 (3) (see all 99) |
| fatty acid |
75.1 |
35 |
14605500 (2), 10331465 (1), 15642848 (1), 16307905 (1) (see all 30) |
| s-adenosylmethionine |
74.4 |
18 |
7654220 (2), 10217622 (1), 18306170 (1), 14615409 (1) (see all 12) |
| oxfenicine |
71.5 |
2 |
11788422 (1), 17149674 (1) |
| acyl-coa |
70.2 |
13 |
16617370 (1), 18067086 (1), 9266372 (1), 10553013 (1) (see all 6) |
| pristanic acid |
69.9 |
2 |
9469587 (1) |
| etomoxir |
65.4 |
4 |
14634285 (1), 16545538 (1), 17149674 (1) |
| malonyl-coa |
60.5 |
10 |
15356215 (4), 10212840 (1) |
| palmitate |
51.5 |
8 |
11788422 (5), 18706397 (1), 17960559 (1) |
| lipid |
46.8 |
18 |
10331465 (1), 10398218 (1), 17828388 (1), 7711730 (1) (see all 14) |
Search CenterWatch for drugs/clinical trials and news about CPT2
|
Transcripts
for CPT2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CPT2 gene: NM_000098.2 Unigene Cluster for CPT2: Carnitine palmitoyltransferase 2 Hs.713535 [show with all ESTs]Unigene Representative Sequence: NM_0000982 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000371486(uc001cvb.4) ENST00000468572
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CPT2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CPT2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CPT2 (NM_000098) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CPT2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT2 |
Additional cDNA sequence: AK223052.1 AK312687.1 BC002445.2 BC005172.2 M58581.1 U09648.1 15 DOTS entries: DT.91759958 DT.95125466 DT.91759962 DT.100784735 DT.317688 DT.100743554 DT.100706716 DT.100784733 DT.101969476 DT.121327699 DT.99947606 DT.101956172 DT.303703 DT.317276 DT.91759963 24/138 AceView cDNA sequences (see all 138): BQ218031 AI494182 BQ223733 AA179663 CR598552 BQ890386 BM551811 CB960675 BI759433 BU553443 BF939459 AU127755 D19885 BQ887542 AA758131 BU167554 BU931477 AU121876 AI872000 BM457066 BG830129 M58581 BU552787 BU629852
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for CPT2 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | - | | | | | | | |
ECgene alternative splicing isoforms for CPT2
|
Expression
for CPT2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CPT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCCTATAAT
About this image
See CPT2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CPT2
SOURCE GeneReport for Unigene cluster: Hs.713535
SABiosciences Expression via Pathway-Focused PCR Arrays including CPT2 (see all 7):
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CPT2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CPT2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CPT2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CPT2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT2 |
Orthologs
for CPT2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for CPT2 gene from 7/28 species (see all 28) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CPT21 |
carnitine palmitoyltransferase 2 |
73.31(n)
76.58(a) |
|
424649 XM_001234342.1 XP_001234343.1 |
lizard
(Anolis carolinensis) |
Reptilia |
CPT26 |
-- |
73(a) |
1 ↔ 1 |
4(115022816-115033281) |
African clawed frog
(Xenopus laevis) |
Amphibia |
cg2107-prov2 |
carnitine palmitoyltransferase II |
73.64(n) |
|
BC045036.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
BQ616409.12 |
-- |
74.95(n) |
|
334779 BQ616409.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG21071 , 3 |
carnitine O-palmitoyltransferase3
CG21071 |
46(a)3
53.43(n)1
47.27(a)1 |
|
63A23
383551 NM_139499.21 NP_647756.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
cpt-21 |
Protein CPT-2 |
50.66(n)
46.38(a) |
|
178025 NM_001047512.1 NP_001040977.1 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
YAT1(YAR035W)4
YAT11 |
Outer mitochondrial carnitine acetyltransferase, minor more4
Yat1p1 |
45.35(n)1
35.7(a)1 |
|
1(190193-192256)4
8512851, 4 NP_009420.11, 4 |
ENSEMBL Gene Tree for CPT2 (if available)
TreeFam Gene Tree for CPT2 (if available) |
Paralogs
for CPT2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CPT2 gene
1 SIMAP similar gene for CPT2 using alignment to 1 protein entry: CPT2_HUMAN:CRAT
CPT2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for CPT2
PGOHUM00000244726
|
Genomic Variants
for CPT2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CPT2 (53662101 - 53679869 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CPT2
1 CNV: 5196
Human Gene Mutation Database (HGMD): CPT2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CPT2 |
|
Disorders
/ Diseases
for CPT2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CPT2 for disorders About GeneDecksing
OMIM gene information: 600650
OMIM disorders: 255110 600649 608836
UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786
Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110];also known as CPT-II deficiency or CPT2 deficiency. CPT2D is an autosomal recessive disorder characterized byrecurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered byprolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical,late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures inthese children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI) [MIM:600649].A disorder of mitochondrial long-chain fatty acid oxidation characterized by hepatic or hepato-cardio-muscularmanifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures,hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency lethal neonatal (CPT2D-LN)[MIM:608836]; also known as lethal neonatal CPT-II deficiency. It is a lethal neonatal form of CPT2D. This rarelypresentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variabilityof the disease is likely attributed to the variable residual enzymatic activity Defects in CPT2 are a cause of susceptibility to encephalopathy acute infection-induced type 4 (IIAE4)[MIM:614212]. A severe neurologic complication of an infection. It manifests within days in otherwise healthy childrenafter common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. Inaffected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading tocoma, 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.Note=Polymorphic variants in CPT2 can confer susceptibility to infection-induced encepalopathy. These variants do notcause classical carnitine palmitoyltransferase 2 deficiency, and patients harboring any of them are asymptomatic mostof the time. However, they are prone to viral infection (high fever)-related encephalopathy (PubMed:21697855)
20/43  diseases for CPT2 (see all 43): About MalaCardscpt ii deficiency, lethal neonatal carnitine-acylcarnitine translocase deficiency cpt ii deficiency cpt deficiency, hepatic, type ii
glycogen storage disease myopathy due to cpt ii deficiency cpt deficiency fatty acid oxidation disorders
dandy-walker syndrome myoglobinuria recurrent glycogen storage disease v carnitine deficiency
malignant hyperthermia malignant hyperthermia susceptibility febrile convulsions type 2 diabetes mellitus
congestive heart failure abetalipoproteinemia dilated cardiomyopathy insulin resistance
3 diseases from the University of Copenhagen DISEASES database for CPT2:Systemic primary carnitine deficiency disease Glycogen storage disease V Dandy-Walker syndrome 10/23 Novoseek disease relationships for CPT2 gene (see all 23) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| carnitine palmitoyltransferase ii deficiency |
99.1 |
63 |
16636033 (4), 1999498 (2), 8815169 (2), 18987586 (2) (see all 53) |
| myoglobinuria, recurrent |
86.6 |
5 |
15776096 (1), 8201482 (1), 8815169 (1), 16225172 (1) |
| rhabdomyolysis |
74.2 |
20 |
18471680 (4), 15754283 (3), 7593992 (1), 16636033 (1) (see all 12) |
| enzyme deficiency |
66.6 |
4 |
10217622 (1), 10451074 (1), 8795843 (1) |
| mcardles disease |
65.2 |
2 |
16540825 (1), 16671104 (1) |
| glycogen storage disease type iv |
63.7 |
1 |
10331465 (1) |
| myopathy |
59 |
9 |
10398218 (1), 18430572 (1), 10451074 (1), 10873395 (1) (see all 6) |
| hypoglycemia |
53.9 |
5 |
18471680 (3), 1999498 (1), 12410208 (1) |
| abetalipoproteinemia |
50.9 |
1 |
16297647 (1) |
| metabolic disorder |
45.5 |
2 |
17638024 (1), 17445541 (1) |
Genatlas disease: CPT2 non ketotic hypoglycemia,liver failure,cardiomyopathy,peripheral myopathy in infant with severe outcome,and,inadult,myopathy with cramps,stiffness and myoglobinuria triggered by exercice,fasting and other metabolic stresses
GeneTests: CPT2
Carnitine Palmitoyltransferase II Deficiency
Genetic Association Database (GAD): CPT2
Human Genome Epidemiology (HuGE) Navigator: CPT2 (12 documents)
Export disorders for CPT2 gene to outside databases
|
Publications
for CPT2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for CPT2 gene, integrated from 9 sources (see all 214):
(articles sorted by number of sources associating them with CPT2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. (PubMed id 9600456)1, 2, 9 Wataya K.... Narisawa K. (1998)
- Novel mutations associated with carnitine palmitoyltransferase II deficiency. (PubMed id 10090476)1, 2, 9 Taggart R.T.... Vladutiu G.D. (1999)
- Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PubMed id 14605500)1, 2, 9 Olpin S.E.... Pollitt R.J. (2003)
- Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. (PubMed id 7711730)1, 2, 9 Verderio E.... Taroni F. (1995)
- Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (PubMed id 15622536)1, 2, 9 Oerngreen M.C.... Vissing J. (2005)
- Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. (PubMed id 9758712)1, 2, 9 Yang B.-Z.... Roe C. (1998)
- Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (PubMed id 14615409)1, 2, 9 Sigauke E.... Bennett M.J. (2003)
- Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. (PubMed id 18306170)1, 2, 9 Yao D....Kido H. (2008)
- cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. (PubMed id 1988962)1, 2, 9 Finocchiaro G.... Didonato S. (1991)
- Antenatal presentation of carnitine palmitoyltransferase II deficiency. (PubMed id 11477613)1, 2, 9 Elpeleg O.N.... Nadjari M. (2001)
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External Searches for CPT2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing CPT2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing CPT2 gene
(According to HUGE)
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Specialized Databases showing CPT2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for CPT2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPT2 |
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| Patent Information for CPT2 gene:
Search GeneIP for patents involving CPT2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CPT2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CPT2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CPT2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CPT2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CPT2 | | OriGene 3'-UTR Clone for CPT2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CPT2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CPT2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for CPT2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CPT2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CPT2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPT2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CPT2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CPT2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CPT2 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT2 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT2 |
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