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    FLG filaggrin [ Homo sapiens (human) ]

    Gene ID: 2312, updated on 12-Feb-2024

    Summary

    Official Symbol
    FLGprovided by HGNC
    Official Full Name
    filaggrinprovided by HGNC
    Primary source
    HGNC:HGNC:3748
    See related
    Ensembl:ENSG00000143631 MIM:135940; AllianceGenome:HGNC:3748
    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
    FLG1; ATOD2; FLG-1
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See FLG in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152302165..152325239, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (151437741..151461789, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152274641..152297715, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:152140032-152141231 Neighboring gene repetin Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:152168785-152169285 Neighboring gene cervical cancer associated DHX9 suppressive transcript Neighboring gene hornerin Neighboring gene filaggrin 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:152350237-152350407 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 Functions

    What'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 2020-02-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of skin epidermis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transition metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in establishment of skin barrier IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of skin barrier IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in keratinocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peptide cross-linking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in cornified envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in keratohyalin granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in keratohyalin granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    filaggrin
    Names
    epidermal filaggrin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002016.2NP_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, Q01720, Q5T583, Q9UC71
      UniProtKB/TrEMBL
      I0B0K8
      Related
      ENSP00000357789.1, ENST00000368799.2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      152302165..152325239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      151437741..151461789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)