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FLASH GENE
Symbol KRT6B contributors: npt/mct - updated : 08-06-2018
HGNC name keratin 6B
HGNC id 6444
Corresponding disease
PC212 pachyonychia congenita type 2
Location 12q13.13      Physical location : 52.840.436 - 52.845.910
Synonym name
  • keratin-like 1 (a type II keratin sequence)
  • keratin, type II cytoskeletal 6B
  • cytokeratin-6B
  • Synonym symbol(s) K6B, PC2, CK6B, KRTL1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with other type II cytokeratins
    STRUCTURE 5.50 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2331 60 564 - Schweizer (2006)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     mouthtongue  highly
     pharynx   highly
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskinpalm   
     skinsole   
     skin appendagesnails   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretorydigestive epithelium  
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved central rod domain, made of four helical domains (1A,1B,2A,2B) interrupted by non alpha helical linkers (L1,2,3)
  • the homology domains H1 and H2, variable region (V1,V2), end sequences (E1,E2)
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Krt2-6b
    ortholog to C.elegans F58E10.3
    Homologene
    FAMILY
  • intermediate filament family
  • type II keratin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text expressed with family members KRT16 and/or KRT17
    basic FUNCTION
  • required for filament assembly
  • CELLULAR PROCESS cell life, proliferation/growth
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text
  • cell shape and cell size control
  • ectoderm development
  • PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with KRT17 and/or KRT16
  • heterodimer of a type I (acidic) and a type II (neutral to basic) keratin
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PC212
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS