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FLASH GENE
Symbol CSTB contributors: mct - updated : 10-09-2010
HGNC name cystatin B (stefin B)
HGNC id 2482
Corresponding disease
EPM1 myoclonic epilepsy of Unverricht-Lundborg
Location 21q22.3      Physical location : 45.193.831 - 45.196.259
Synonym name
  • stefin B
  • cystatin B, cysteine proteinase inhibitor, type 2 family
  • liver thiol proteinase inhibitor
  • Synonym symbol(s) STFB, CST6, PME, CPI-B
    DNA
    TYPE functioning gene
    STRUCTURE 2.43 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif repetitive sequence   other
    text structure variable dodecamer tandem repeat (VNTR)
    MAPPING cloned Y linked   status confirmed
    Physical map
    PKNOX1 21q22.3 PBX/knotted 1 homeobox 1 CBS 21q22.3 cystathionine-beta-synthase U2AF1 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 MRPL51P2 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 LOC388829 21 LOC388829 CRYAA 21q22.3 crystallin, alpha A SNF1LK 21q22.3 SNF1-like kinase C21orf125 21 chromosome 21 open reading frame 125 C21orf84 21q22.1 chromosome 21 open reading frame 84 HSF2BP 21q22.3 heat shock transcription factor 2 binding protein RPL31P1 21q22.3 ribosomal protein L31 pseudogene 1 H2BFS 21q22.3 H2B histone family, member S KIAA0179 21q22.3 H2B histone family, member S PDXK 21q22.3 pyridoxal (pyridoxine, vitamin B6) kinase C21orf124 21q22.3 chromosome 21 open reading frame 124 C21orf97 21q22.3 chromosome 21 open reading frame 97 CSTB 21q22.3 cystatin B (stefin B) D21S2056E 21q22.3 DNA segment on chromosome 21 (unique) 2056 expressed sequence LOC284837 21q22.3 hypothetical protein LOC284837 MYL6P 21q22.3 myosin, light polypeptide 6, pseudogene AGPAT3 21q22.3 1-acylglycerol-3-phosphate O-acyltransferase 3 TMEM1 21q22.3 transmembrane protein 1 H2AFZP 21q22.3 H2A histone family, member Z, pseudogene PWP2H 21q22.3 PWP2 periodic tryptophan protein homolog (yeast) C21orf33 21q22.3 chromosome 21 open reading frame 33 C21orf32 21q22.3 chromosome 21 open reading frame 32 ICOSL 21q22.3 inducible T-cell co-stimulator ligand DNMT3L 21q22.3 DNA (cytosine-5-)-methyltransferase 3-like AIRE 21q22.3 autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) PFKL 21q22.3 phosphofructokinase, liver C21orf2 21q22.3 chromosome 21 open reading frame 2 TRPM2 21q22.3 transient receptor potential cation channel, subfamily M, member 2 LRRC3 21q22.3 leucine-rich repeat-containing 3 C21orf29 21q22.3 chromosome 21 open reading frame 29 C21orf90 21q22.1 chromosome 21 open reading frame 90
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 674 11.1 98 - Werle, Skerget (2010)
    - - 249 9 83 ubiquitous Joensuu (2007)
    retention of the entire intron 2
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveesophagus   highly
     pharynx   highly
    Endocrineparathyroid   highly
    Nervousbrain   highly
    Reproductivemale systemprostate   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte
    Nervousoligodendrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two intramolecular disulfide bonds
  • a cystatin domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Cstb
    Homologene
    FAMILY
  • cystatin type 1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text interaction between cystatin B and nucleosomes, specifically with histones H2A.Z, H2B, and H3 (Ceru 2010)
    basic FUNCTION
  • cysteine proteinase inhibitor playing a role in protecting against the proteases leaking from lysosomes
  • anti-protease, that aggregates within cells, aggregation increasing upon protein overexpression or proteasome inhibition (Ceru 2010)
  • could play an important role in regulating the proteolytic activity of cathepsin L in the nucleus, protecting substrates such as transcription factors from its proteolytic processing (Ceru 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • tightly binding and inhibitor of cathepsins H, L, B
  • APP/Abeta-binding protein in vitro and likely in cells (Skerget 2010)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPM1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lung tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker may be useful as a novel predictive biomarker in transitional cell carcinoma of the bladder (Feldman 2009)
    Therapy target
    ANIMAL & CELL MODELS
    mice lacking cystatin B develop myoclonic seizures and ataxia