Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol KRT12 contributors: mct/npt/shn - updated : 03-04-2011
HGNC name keratin 12
HGNC id 6414
Corresponding disease
CDM2 corneal dystrophy, juvenile epitihelial 2, of Meesmann
Location 17q21.2      Physical location : 39.017.429 - 39.023.462
Synonym name
  • Meesmann corneal dystrophy
  • keratin, type I cytoskeletal 12
  • cytokeratin-12
  • CK-12
  • Synonym symbol(s) K12
    DNA
    TYPE functioning gene
    STRUCTURE 6.03 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D17S1814 - D17S1299 - KRT12 - D7S800 - D17S1787 - qter
    Authors Irvine (97)
    Physical map
    LOC284134 17q21.2 hypothetical LOC284134 CCR7 17q21.1 chemokine (C-C motif) receptor 7 SMARCE1 17q21.1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 MGC45562 17q21.2 hypothetical protein MGC45562 KRT24 17q11.2 keratin 24 KRT25B 17q21.2 keratin 25B KRT25A 17q21.2 keratin 25A KRT25C 17q21.2 keratin 25C KRT25D 17q21.2 keratin 25C MGC21518 17q21.2 hypothetical protein MGC21518 KRT12 17q21.1 keratin 12 (Meesmann corneal dystrophy) KRT20 17q21.2 keratin 20 KRT23 17q21.2 keratin 23 (histone deacetylase inducible) LOC390792 17 similar to type I hair keratin 6 FLJ36600 17q21.2-q21.31 hypothetical protein FLJ36600 KRTAP3-3 17q12-q21 keratin associated protein 3-3 KRTAP3-2 17q12-q21 keratin associated protein 3-2 KRTAP3P1 17q12-q21 keratin associated protein 3 pseudogene 1 KRTAP3-1 17q12-q21 keratin associated protein 3-1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1992 53.5 494 - -
    EXPRESSION
    Type restricted
    constitutive ofcornea specific
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
     nervecranial nerve  lowly
    Visualeyeanterior segmentcornea specific
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoptic nerve
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text corneal differentiation, eye, lens, anterior segment, optic nerve, retina, RPE, choroid
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • conserved a central rod domain
  • made of four helical domains (1A, 1B, 2A, 2B) interrupted by non alpha helical linkers (L1, 2, 3) and flanked by the homology domain H1, by variable region (V1, V2) and end sequences (E1, E2)
  • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies ortholog to KRT12, Pan troglodytes
    ortholog to Krt12, Rattus norvegicus
    ortholog to Krt12, Mus musculus
    Homologene
    FAMILY
  • intermediate filament family
  • type 1 keratin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • may be playing a unique role in maintaining the normal corneal epithelial function
  • clonal activation of individual Krt12 alleles occurred in limbal stem cells undergoing corneal type-epithelium differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • heterotetramer of two type I and two type II keratins
  • associating with keratin 3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • KRT3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDM2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS