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    FLG2 filaggrin family member 2 [ Homo sapiens (human) ]

    Gene ID: 388698, updated on 17-Jun-2019

    Summary

    Official Symbol
    FLG2provided by HGNC
    Official Full Name
    filaggrin family member 2provided by HGNC
    Primary source
    HGNC:HGNC:33276
    See related
    Ensembl:ENSG00000143520 MIM:616284
    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
    IFPS; PSS6
    Summary
    The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa. [provided by RefSeq, Dec 2015]
    Expression
    Restricted expression toward skin (RPKM 248.2) See more
    Orthologs

    Genomic context

    See FLG2 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152348735..152360028, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152321213..152332482, complement)

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

    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
    PEELING SKIN SYNDROME 6
    MedGen: CN252690 OMIM: 618084 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

    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
     
    structural constituent of epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transition metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epidermis morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cornified envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    keratohyalin granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus HDA PubMed 
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    filaggrin-2
    Names
    ifapsoriasin
    intermediate filament-associated and psoriasis susceptibility protein

    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.

    mRNA and Protein(s)

    1. NM_001014342.3NP_001014364.1  filaggrin-2

      See identical proteins and their annotated locations for NP_001014364.1

      Status: REVIEWED

      Source sequence(s)
      AL356504, AY827490, BC108269, BX095286
      Consensus CDS
      CCDS30861.1
      UniProtKB/Swiss-Prot
      Q5D862
      Related
      ENSP00000373370.4, ENST00000388718.5
      Conserved Domains (1) summary
      cd00213
      Location:287
      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 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
      152348735..152360028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509531.2XP_011507833.1  filaggrin-2 isoform X1

      Conserved Domains (1) summary
      cd00213
      Location:287
      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 ...
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