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FLASH GENE
Symbol KRT6B contributors: npt/mct - updated : 21-06-2006
HGNC name keratin 6B
HGNC id 6444
Corresponding disease
PC212 pachyonychia congenita type 2
Location 12q12-q13.2      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
    Physical map
    NR4A1 12q13 nuclear receptor subfamily 4, group A, member 1 FLJ11773 12q13.13 hypothetical protein FLJ11773 OR7E47P 12q13.13 olfactory receptor, family 7, subfamily E, member 47 pseudogene LOC144501 12q13.13 hypothetical protein LOC144501 LOC283403 12q13.13 hypothetical protein LOC283403 KRT7 12q13 keratin 7 KRTHBP4 12q13 keratin, hair, basic, pseudogene 4 KRTHBP3 12q13 keratin, hair, basic, pseudogene 3 LOC387859 12 LOC387859 KRTHB1 12q13 keratin, hair, basic, 1 KRTHB6 12q13 keratin, hair, basic, 6 (monilethrix) KRTHB3 12q13 keratin, hair, basic, 3 KRTHBP2 12q13 keratin, hair, basic, pseudogene 2 KRTHB5 12q13 keratin, hair, basic, 5 KRTHB4 12q13 keratin, hair, basic, 4 KRTHB2 12q13 keratin, hair, basic, 2 KRTHBP1 12q13 keratin, hair, basic, pseudogene 1 K6HF 12q13 cytokeratin type II KRT6B 12q13.1-q13.2 keratin 6B KRT6E 12q13.13 keratin 6E KRT6A 12q13 keratin 6A KRT6C 12q12-q13 keratin 6C KRT5 12q13.2-q13.3 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) KRT6IRS 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS4 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS2 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS3 12q13.3 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) KRT2A 12q13.1-q13.2 keratin 2A (epidermal ichthyosis bullosa of Siemens) KRT1 12q13 keratin 1 (epidermolytic hyperkeratosis) LOC387860 12 similar to keratin 1b LOC341409 12q13.13 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 LOC387861 12 similar to K+ channel tetramerization protein HUMCYT2A 12q13.13 cytokeratin 2 KRT3 12q13 keratin 3 KRT4 12q13 keratin 4
    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