Detailed description page of humcfs

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Humcfs_255 details
Primary information
Humcfs IdHumcfs_255
chromosome_numberchromosome1
nameFRA1B
chrlocation50700001-61300000
cytoband1p32
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000157184
gene_nameCPT2
havana_transcript_idOTTHUMT00000489827
gene_location53196792-53214178
gene_orientation+
exon_idENSE00003798715, ENSE00003680217, ENSE00001064632, ENSE00003800748, ENSE00003801032
exon_number5
gene_descriptioncarnitine palmitoyltransferase 2
disease_descriptionENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4,Myoglobinuria,Metabolic Syndrome X,Generalized glycogen storage disease of infants,Kidney Failure, Acute,CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL,Myopathy,Obesity,melanoma,Malignant neoplasm of prostate,Glycogen storage disease type II,Encephalopathies,CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET,Lipoidosis,Prostate carcinoma,Left Ventricular Hypertrophy,Brain Diseases, Metabolic,Hypoglycemia,Myalgia,CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE,Lipid Metabolism Disorders,Encephalitis,Multiple Acyl Coenzyme A Dehydrogenase Deficiency,Kidney Failure, Chronic,Influenza,Glycogen Storage Disease Type V,Brain Edema,Cardiomyopathy, Dilated,Acute encephalopathy,Cardiomyopathies,Mitochondrial Diseases,Rhabdomyolysis,Carnitine palmitoyl transferase 2 deficiency
miRNA_location59733269-59733291
miRNA_strand-
miRNA_idMIMAT0019816
miRNA_namehsa-miR-4711-5p
miRNA_derived MI0017345
TechniqueFISH
PMID18008369
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