Format

Send to:

Choose Destination
    • Showing Current items.

    FLG filaggrin [ Homo sapiens (human) ]

    Gene ID: 2312, updated on 15-Jun-2019

    Summary

    Official Symbol
    FLGprovided by HGNC
    Official Full Name
    filaggrinprovided by HGNC
    Primary source
    HGNC:HGNC:3748
    See related
    Ensembl:ENSG00000143631 MIM:135940
    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]
    Expression
    Restricted expression toward skin (RPKM 454.2) See more
    Orthologs

    Genomic context

    See FLG in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC112268240 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    Pathways from BioSystems

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 constituent of epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    structural constituent of epidermis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transition metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cornification TAS
    Traceable Author Statement
    more info
     
    establishment of skin barrier IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    collagen-containing extracellular matrix HDA PubMed 
    cornified envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    intermediate filament NAS
    Non-traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    keratohyalin granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    keratohyalin granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus HDA PubMed 

    General protein information

    Preferred Names
    filaggrin
    Names
    epidermal filaggrin

    NCBI Reference Sequences (RefSeq)

    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), LRG_1028

    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
      ENSP00000357789.1, ENST00000368799.1
      Conserved Domains (2) summary
      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 ...
      pfam03516
      Location:23332374
      Filaggrin; Filaggrin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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