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FLASH GENE
Symbol PPT2 contributors: - updated : 23-06-2006
HGNC name palmitoyl-protein thioesterase 2
HGNC id 9326
Location 6p21.3      Physical location : 3.382.313 - 32.131.451
Synonym name
  • VE-statin 2
  • palmitoyl-protein hydrolase 2
  • lysosomal thioesterase PPT2
    • Synonym symbol(s) C6orf8, G14, NG3
    EC.number 3.1.2.22
    DNA
    TYPE functioning gene
    STRUCTURE 10.00 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1772 36 308 - Soymbo, Calero
    encoded by nine exons (1a to 9)
    - splicing 2000 - - placenta Soymbo
    some protein (exon 1a to 9)
    - splicing 2800 - - ubiquitous Soymbo
    overlapping with an homolog of latent transforming growth factor beta binding protein (LTBP)
    - splicing 7000 - - widely by different from the other forms Soymbo
    also including LBTP
    - splicing 1500 - - - Soymbo
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemovary  highly
    Skin/Tegumentskin   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY palmitoyl-protein thioesterase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • involved in the catabolism of lipid-modified proteins hydrolizing thioesters bonds that link fatty acids to cysteine residues in S-fatty acylated proteins
  • not complementing the PPT1 defect in infantile neuronal ceroid lipofuscinosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    knockout mice with neuronal ceroid lypofuscinosis