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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
Corresponding disease
HCHWAI hereditary cerebral hemorrhage with amyloidosis
Location 20p11.21      Physical location : 23.614.293 - 23.618.574
Synonym name
  • neuroendocrine basic polypeptide
  • cystatin C
  • Synonym symbol(s) HCCAA, MGC117328, ARMD11, CYSc, CSTC
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 4.28 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    KRT18P3 Xq21 keratin 18 pseudogene 3 CYB5P4 20p11.2 cytochrome b-5 pseudogene 4 SSTR4 20p11.2 somatostatin receptor 4 THBD 20p11.2 thrombomodulin C1QR1 20pter-p12-3 complement component 1, q subcomponent, receptor 1 LOC200261 20p11.22 hypothetical protein LOC200261 NXT1 20p12-p11.2 NTF2-like export factor 1 LOC149913 20p11.21 hypothetical LOC149913 ZNF336 20p12.3-p11.21 zinc finger protein 336 NAPB 20p12.3-p11.21 N-ethylmaleimide-sensitive factor attachment protein, beta CSTL1 20p11.21 cystatin-like 1 CST11 20p11.21 cystatin 11 CST8 20p11.22-p11.21 cystatin 8 (cystatin-related epididymal specific) IMAGE:4837709 20p11.21 cystatin pseudogene LOC128820 20p11.21 cystatin pseudogene CST9L 20p11.21 cystatin 9-like (mouse) bA218C14.3 20p11.21 cystatin 9 CST3 20p11.22-p11.21 cystatin C (amyloid angiopathy and cerebral hemorrhage) CST4 20p11.2 cystatin S CST1 20p11.2 cystatin SN CSTP2 20p11.2 cystatin pseudogene 2 CST2 20p11.2 cystatin SA CST5 20p11.21 cystatin D CSTP1 20p11.2 cystatin pseudogene 1 GGTLA4 20p11.1 gamma-glutamyltransferase-like activity 4 LOC284796 20p11.21 similar to hypothetical protein DKFZp434P211.1 - human (fragments) C20orf39 20p11.21 chromosome 20 open reading frame 39
    regionally located clustered in a space of 900kb with other type 2 cystatin genes
    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