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FLASH GENE
Symbol CST3 contributors: mct - updated : 21-12-2011
HGNC name cystatin C (amyloid angiopathy and cerebral hemorrhage)
HGNC id 2475
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 818 - 146 - 2002 11879580
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth    
 salivary glandsubmandibular   
Lymphoid/Immunethymus   highly
Nervousbrain   highly
reproductiveepididymis   highly
Reproductivefemale systemovary  highly
 male systemseminal vesicles   
 male systemmale genital tractvas deferens  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelial    
Lymphoid    
cell lineage
cell lines
fluid/secretion highly in saliva, tears, seminal plasma, cerebrospinal fluid
at STAGE
PROTEIN
PHYSICAL PROPERTIES basic Hydrophobic
STRUCTURE
motifs/domains
  • two intramolecular disulfide bonds
  • hydrophobic 26AA leader sequence
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Cst3
    Homologene
    FAMILY cystatin family
    CATEGORY enzyme , regulatory , secretory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • inhibitor of several cysteine proteinases, such as cathepsins S, B, and K
  • inhibitor of cathepsin B, playing an important role of C in coronary artery disease
  • inhibitor of CST6 in retinal pigment epithelium
  • plays a role in cardiac extracellular matrix remodelling
  • inhibitor for human meprin MEP1A
  • CST3 an AHSG are endogenous inhibitors of human meprin metalloproteases
  • regulates nitric oxide secretion by macrophages and is a TGFbeta antagonist
  • may play an important role in the pathogenesis and metastasis of esophageal cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IRF8 is critical for CST3 expression in primary dendritic cells
  • proteolytic target of cathepsin D (CTSD) and has a direct, causal impact on cell differentiation
  • orchestrates cathepsin S expression through a tight but reversible interaction
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HCHWAI
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Amyotrophic lateral sclerosis (ALS) patients were significantly elevated in plasma and reduced in cerebrospinal fluid (CSF)compared to healthy controls, but did not differ significantly from neurologic disease control
    Susceptibility
  • to age related exudative macular degeneration late-onset Alzheimer disease (>75 years)
  • to frontotemporal lobar degeneration (FTLD)
  • Variant & Polymorphism other
  • CST A allele risk factor for early-onset Alzheimers disease,B/B variant (ARMD)
  • polymorphisms (-82G/C and -78T/G)significantly associated with coronary artery disease
  • over-representation of the CST3 haplotype B and of AB/BB genotypes, in FTLD patients negative for the presence of GRN mutations
  • Candidate gene
    Marker
  • correlations between CSF cystatin C levels to both ALS disease progression and patient survival
  • S-cystatin C seems a useful marker for kidney function in the elderly
  • maternal serum cystatin C concentrations in early pregnancy may be of value in identifying women at high risk of developing preeclampsia
  • low levels of serum cystatin C precede clinically manifest Alzheimer disease (AD) in elderly men free of dementia at baseline and may be a marker of future risk of AD
  • may be an independent marker of atherosclerotic disease apart from its relation to kidney function
  • Therapy target
    ANIMAL & CELL MODELS