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FLASH GENE
Symbol CST6 contributors: mct/np - updated : 05-11-2007
HGNC name cystatin E/M
HGNC id 2478
Location 11q13.2      Physical location : 65.779.461 - 65.780.975
Synonym name
  • cystatin-6
  • cystatin-E
  • cysteine proteinase inhibitor
    • Synonym symbol(s) A17F1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 1.00 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    regionally located clustered in a space of 900kb
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 627 16.5 149 - Rivenbark (2007)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Endocrinethyroid    
    Lymphoid/Immunelymph node    
    Reproductivefemale systemplacenta  highly
     female systembreast   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    Visualepithelial cell
    cell lineage
    cell lines
    fluid/secretion found at high levels in saliva, tears, seminal plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • cystatin superfamily
  • type 2 cystatin family
    • CATEGORY enzyme , secretory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • cysteine proteinase inhibitor acting as an acyl acceptor but not as an acyl donor
  • playing a role in the modulation of genes, particularly, genes that are highly relevant to breast cancer progression
  • cervical cancer suppressor gene (Veena 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • inhibited by CST3 in retinal pigment epithelium
  • substrate for transglutaminases
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    in metastatic mamary epithelial tumors cells
    tumoral     --low  
    in cervical cancer (promoter is silenced by hypermethylation and/or histone deacetylation) (Veena 2008)
    tumoral     --low  
    by hypermethylation in renal cell carcinoma (Morris 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS