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FLASH GENE
Symbol KRT12 contributors: mct/npt/shn - updated : 03-04-2011
HGNC name keratin 12
HGNC id 6414
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