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    FLG filaggrin [ Homo sapiens (human) ]

    Gene ID: 2312, updated on 9-Jun-2016
    Official Symbol
    FLGprovided by HGNC
    Official Full Name
    filaggrinprovided by HGNC
    Primary source
    HGNC:HGNC:3748
    See related
    Ensembl:ENSG00000143631 HPRD:15920; MIM:135940; Vega:OTTHUMG00000012202
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATOD2
    Summary
    The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]
    Orthologs
    Location:
    1q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (152302175..152325203, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152274651..152297679, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene repetin Neighboring gene hornerin Neighboring gene FLG antisense RNA 1 Neighboring gene filaggrin family member 2 Neighboring gene high mobility group nucleosomal binding domain 3 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Dermatitis, atopic, 2
    MedGen: C1853965 OMIM: 605803 GeneReviews: Not available
    Compare labs
    Ichthyosis vulgaris
    MedGen: C0079584 OMIM: 146700 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2016-03-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2016-03-24)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
    NHGRI GWA Catalog
    Genetic variants associated with disordered eating.
    NHGRI GWA Catalog
    Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    establishment of skin barrier IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    keratinocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organism development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    intermediate filament NAS
    Non-traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    keratohyalin granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    filaggrin
    Names
    epidermal filaggrin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016190.1 RefSeqGene

      Range
      5001..28029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002016.1NP_002007.1  filaggrin

      See identical proteins and their annotated locations for NP_002007.1

      Status: REVIEWED

      Source sequence(s)
      AL356504
      Consensus CDS
      CCDS30860.1
      UniProtKB/Swiss-Prot
      P20930
      Related
      ENSP00000357789, OTTHUMP00000014057, ENST00000368799, OTTHUMT00000033742
      Conserved Domains (2) summary
      pfam03516
      Location:904955
      Filaggrin; Filaggrin
      cd00213
      Location:288
      S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      152302175..152325203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      153670002..153693030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)