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FLASH GENE
Symbol KRT2 contributors: mct/npt - updated : 04/10/2008
HGNC name keratin 2
HGNC id 6439
Corresponding disease
IBS ichthyosis, bullous type
Location 12q13.1-q13.2      Physical location : 53.038.342 - 53.045.959
Synonym name
  • epidermal ichthyosis bullosa of Siemens
  • keratin, type II cytoskeletal 2 epidermal
  • keratin 2A (epidermal ichthyosis bullosa of Siemens)
  • cytokeratin-2e
  • Synonym symbol(s) KRTE, KRT2E, K22E, KRT2A, MGC116968, MGC116967, K2e
    DNA
    TYPE virus associated
    SPECIAL FEATURE component of a cluster
    text type II cytokeratins are clustered in a region of chromosome 12q12-q13
    STRUCTURE 7.62 kb     9 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2459 - 639 - Schweizer (2006)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Epithelialbarrier/liningepidermisstratum spinosum 
    skin tegumentdermis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved central rod domain
  • four helical domains (1A, 1B, 2A, 2B)
  • interrupted by non alpha helical linkers (L1, 2, 3)
  • homology domains H1 and H2, by variable region (V1, V2) and end sequences (E1, E2)
  • mono polymer heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • intermediate filament family
  • type II keratin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • may be contributing to terminal cornification
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS