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FLASH GENE
Symbol FLG contributors: mct/npt/pgu - updated : 16-05-2018
HGNC name filaggrin
HGNC id 3748
Corresponding disease
IVLG ichthyosis vulgaris, simplex
Location 1q21.3      Physical location : 152.274.650 - 152.297.679
Synonym name
  • profilaggrin
  • epidermal filaggrin
  • Synonym symbol(s) ATOD2
    DNA
    TYPE functioning gene
    STRUCTURE 23.03 kb     3 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see EDC
    Physical map
    OAZ3 1q21.3 ornithine decarboxylase antizyme 3 TDRKH 1q21 tudor and KH domain containing protein LOC339398 1q21.3 similar to DAAT9248 LOC388696 1 LOC388696 RORC 1q21 RAR-related orphan receptor C FLJ37964 1q21.3 hypothetical protein FLJ37964 CTMP 1q21 C-terminal modulator protein LOC391099 1 similar to keratin 8, type II cytoskeletal - human S100A10 1q21 S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)) LOC391100 1 similar to KIAA1245 protein S100A11 1q21.2-q22 S100 calcium binding protein A11 (calgizzarin) LOC126637 1q21.3 similar to RIKEN cDNA 5430400H23 THH 1q21 trichohyalin FAM16B 1q21 family with sequence similarity 16, member B FLJ39117 1q21.3 hypothetical protein FLJ39117 LOC388697 1 hypothetical gene supported by AB104446 FLG 1q21 filaggrin LOC388698 1 similar to dJ14N1.2 (novel S-100/ICaBP type calcium binding domain protein, similar to trichohyalin) C1orf10 1q21 chromosome 1 open reading frame 10 SPRL5A 1q21.3 small proline rich-like (epidermal differentiation complex) 5A NICE-1 1q21 NICE-1 protein LEP17 1q21.3 late envelope protein 17 SPRL6A 1q21 small proline rich-like (epidermal differentiation complex) 6A SPRL3A 1q21.3 small proline rich-like (epidermal differentiation complex) 3A LEP14 1q21.3 late envelope protein 14 LEP13 1q21.3 late envelope protein 13 LOC388699 1 similar to skin-specific protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 12747 - 4061 - 1992 1429717
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemuterus   
     female systembreastmammary gland  
     male systemtestis   
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningepidermisstratum corneum  Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • S100-fused protein family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • aggregating keratin filaments and promoting disulfite-bonding
  • integral part of the epidermis that plays a key role in engineering and maintaining the barrier function
  • having a key role in maintaining an effective skin barrier against the external environment
  • possible genetic modifier in other genodermatoses
  • FLG and FLG2 display a related structural organization, an identical pattern of expression and localization in epidermis, and proteolytic processing of a large precursor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of the epidermal differentiation complex (EDC@)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • intermediate filament associated protein (IFAP type I)
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IVLG
    Susceptibility
  • to atopic dermatis, for the extrinsic subtype of AD, and with concomitant respiratory allergic diseases
  • Variant & Polymorphism other
  • R510X and 2282del4 are very strong predisposing factors for atopic dermatitis
  • four prevalent mutations (R501X, 2282del4, R2447X and S3247X)strongly associated to atopic dermatis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS