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FLG Gene

protein-coding   GIFtS: 57
GCID: GC01M152274

Filaggrin

  See FLG-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
filaggrin1 2
ATOD22 5
Epidermal Filaggrin2

External Ids:    HGNC: 37481   Entrez Gene: 23122   Ensembl: ENSG000001436317   OMIM: 1359405   UniProtKB: P209303   

Export aliases for FLG gene to outside databases

Previous GC identifers: GC01M150115 GC01M148057 GC01M149049 GC01M149491 GC01M149089 GC01M150541 GC01M123649


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FLG Gene:
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)

GeneCards Summary for FLG Gene:
FLG (filaggrin) is a protein-coding gene. Diseases associated with FLG include dominant ichthyosis vulgaris, and dermatitis, atopic 2. GO annotations related to this gene include structural molecule activity and calcium ion binding. An important paralog of this gene is RPTN.

UniProtKB/Swiss-Prot: FILA_HUMAN, P20930
Function: Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate
filaments during terminal differentiation of mammalian epidermis




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the FLG gene promoter:
         Tal-1   AML1a   Lmo2   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   STAT5A   CUTL1   E47   C/EBPalpha   Pax-3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFLG promoter sequence
   Search Chromatin IP Primers for FLG

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FLG


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

FLG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FLG gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M152274:  view genomic region     (about GC identifiers)

Start:
152,274,651 bp from pter      End:
152,297,679 bp from pter
Size:
23,029 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FILA_HUMAN, P20930 (See protein sequence)
Recommended Name: Filaggrin  
Size: 4061 amino acids; 435170 Da
Secondary accessions: Q01720 Q5T583 Q9UC71

Explore the universe of human proteins at neXtProt for FLG: NX_P20930

Explore proteomics data for FLG at MOPED

Post-translational modifications: 

  • Filaggrin is initially synthesized as a large, insoluble, highly phosphorylated precursor containing many tandem
    copies of 324 AA, which are not separated by large linker sequences. During terminal differentiation it is
    dephosphorylated and proteolytically cleaved. The N-terminal of the mature protein is heterogeneous, and is
    blocked by the formation of pyroglutamate1
  • Undergoes deimination of some arginine residues (citrullination)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FLG Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002007.1  
    ENSEMBL proteins: 
     ENSP00000357789  

    FLG Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for FLG 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 6):
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR013787 S100_Ca-bd_sub
     IPR018247 EF_Hand_1_Ca_BS
     IPR001751 S100/CaBP-9k_CS

    Graphical View of Domain Structure for InterPro Entry P20930

    ProtoNet protein and cluster: P20930

    1 Blocks protein domain: IPB001751 Calcium-binding protein

    UniProtKB/Swiss-Prot: FILA_HUMAN, P20930
    Similarity: Belongs to the S100-fused protein family
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 23 filaggrin repeats


    Find genes that share domains with FLG           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FILA_HUMAN, P20930
    Function: Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate
    filaments during terminal differentiation of mammalian epidermis

         Genatlas biochemistry entry for FLG:
    filaggrin,44kDa,intermediate filament associated protein (IFAP,type I),expressed in the horny layer of stratified
    epithelia,aggregating keratin filaments and promoting disulfite-bonding,component of the epidermal
    differentiation complex (EDC@)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS2740331
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with FLG           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for FLG:
     Decreased viability of wild-ty  Increased G2M DNA content  Increased cell size  Increased cilium length after  

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Flg):
     cellular  craniofacial  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging 

    Find genes that share phenotypes with FLG           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Flgtm1Amag for FLG

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FLG
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FLG

    miRNA
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    miRTarBase miRNAs that target FLG:
    hsa-mir-124-3p (MIRT022464)

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    SwitchGear 3'UTR luciferase reporter plasmidFLG 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FLG

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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLG

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLG


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    extracellular2
    nucleus2
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament NAS2740331
    GO:0016023cytoplasmic membrane-bounded vesicle IDA12850301

    Find genes that share ontologies with FLG           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FLG About    
    See pathways by source

    SuperPathContained pathways About
    1AhR pathway (WikiPathways)
    AhR pathway


    1 BioSystems Pathway for FLG
        AhR pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FLG
    Interactions:

        GeneGlobe Interaction Network for FLG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for FLG (P209303 ENSP000003577894) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP1O947823, ENSP000003435264I2D: score=2 STRING: ENSP00000343526
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    PCSK6P291223, ENSP000003320524I2D: score=1 STRING: ENSP00000332052
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    VHLP403373, ENSP000002564744I2D: score=1 STRING: ENSP00000256474
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development NAS2740331
    GO:0030216keratinocyte differentiation TAS17704059
    GO:0061436establishment of skin barrier IEP--

    Find genes that share ontologies with FLG           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FLG (FILA)

    Selected Novoseek inferred chemical compound relationships for FLG gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrulline 58.3 6 15832289 (1), 9886436 (1), 15080264 (1), 11138614 (1) (see all 6)
    retinoic acid 44.5 27 11641059 (5), 2090523 (4), 1370674 (1), 1370673 (1) (see all 10)
    calcipotriol 40.7 1 8818184 (1)
    dithranol 39.8 2 9167334 (1), 12218288 (1)
    retinoid 35.3 4 1370674 (1), 11641059 (1), 1693821 (1), 8915849 (1)
    mecamylamine 28.4 1 16810300 (1)
    serine 28.1 6 19387477 (1), 15590704 (1), 18774391 (1), 15679111 (1)
    ceramide 26.8 2 9470901 (1), 17714827 (1)
    arginine 24.7 4 15832289 (1), 11069618 (1), 10536966 (1)
    calcium 21.4 26 7829877 (4), 8417356 (3), 18633436 (1), 2007780 (1) (see all 10)



    Find genes that share compounds with FLG           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FLG gene: 
    NM_002016.1  

    Unigene Cluster for FLG:

    Filaggrin
    Hs.654510  [show with all ESTs]
    Unigene Representative Sequence: NM_002016
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368799(uc001ezu.1)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat FLG

    Additional mRNA sequence: 

    AB208881.1 L01090.1 M24355.1 M60495.1 M60499.1 M60500.1 M60502.1 

    3 DOTS entries:

    DT.70103862  DT.92052705  DT.95264067 

    2 AceView cDNA sequences:

    M60502 BG742868 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FLG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAGCTAAC
    FLG Expression
    About this image


    FLG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 6 entries
             Granular Keratinocytes Stratified Epidermis
             Full-thickness skin substitutes
             Purified keratinocyte-like cells
     
     Epithelial Cells
             Granular Keratinocytes Stratified Epidermis
             limbal epithelial basal cells   
     
     Eye (Sensory Organs)
             limbal epithelial basal cells   
    FLG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FLG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654510

    UniProtKB/Swiss-Prot: FILA_HUMAN, P20930
    Tissue specificity: Keratohyalin granules

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FLG gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Flg5 filaggrin   --   3 (40.16 cM) 93273541 
    chicken
    (Gallus gallus)
    Aves CRNN6
    Gallus gallus cornulin (CRNN), mRNA.
    16(a)
    1 → many
    25(1132880-1134156)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    13(a)
    1 → many
    GL343369.1(7-2795)


    ENSEMBL Gene Tree for FLG (if available)
    TreeFam Gene Tree for FLG (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FLG gene
    RPTN2  FLG22  TCHH2  HRNR2  CRNN2  TCHHL12  
    10 SIMAP similar genes for FLG using alignment to 14 protein entries:     FILA_HUMAN (see all proteins):
    HRNR    RPTN    S100A9    S100Z    S100A12    S100B
    S100A8    TCHHL1    S100A11    FLG2

    Find genes that share paralogs with FLG           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FLG (see all 1689)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs618167611,2
    C,Fpathogenic1158787159(+) GTCTCG/ATGCCT 2 /R /* stg13Minor allele frequency- A:0.02NA EU 5877
    rs1506306441,2
    Cuntested1158776522(+) TGTTTC/TGATAT 2 S syn10--------
    rs2011564101,2
    C,Funtested1158779114(+) TCATGG/ATGACG 2 /H syn11Minor allele frequency- A:0.01EU 1280
    rs716251901,2
    Cuntested1158786104(+) CCCTGC/G/TCTTCC 2 R syn12NA EU 951
    rs127462161,2
    H--152276777(+) CCTGGG/ACCCCG 2 /P /S mis1 ese33Minor allele frequency- A:0.00NS CSA 226
    rs127289081,2,,4
    F,H--152276855(+) CGACCA/CTGAGT 2 G W mis1 ese36Minor allele frequency- C:0.00NS EA NA 406
    rs794664251,2
    C,F--152277003(+) TCTACC/TGATTG 2 S syn11Minor allele frequency- T:0.00NA 4552
    rs799214071,2
    C,F--152277790(-) CGACAT/GCTCTA 2 /S /I mis11Minor allele frequency- G:0.02EU 909
    rs342248231,2
    C--152287342(+) AAATCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1129118001,2
    C--152287753(+) GAGAAAAA/-CAAAT 1 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for FLG (152274651 - 152297679 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FLG (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671163CNV Deletion23128226
    esv1330223CNV Deletion17803354
    esv2665362CNV Deletion23128226
    esv2669572CNV Deletion23128226
    esv2718128CNV Deletion23290073
    esv2718117CNV Deletion23290073
    nsv471348CNV Duplication19718026
    nsv821364CNV Duplication20802225
    esv25681CNV Loss19812545
    nsv159623CNV Loss16902084

    Human Gene Mutation Database (HGMD): FLG
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FLG
    DNA2.0 Custom Variant and Variant Library Synthesis for FLG

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 135940   
    OMIM disorders: 146700  605803  
    UniProtKB/Swiss-Prot: FILA_HUMAN, P20930
  • Ichthyosis vulgaris (VI) [MIM:146700]: The most common form of ichthyosis inherited as an autosomal
    dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most
    prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent
    or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with
    frequent asthma, eczema or hay fever. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Dermatitis atopic 2 (ATOD2) [MIM:605803]: Atopic dermatitis is a complex, inflammatory disease with
    multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or
    early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal
    barrier function that culminates in dry skin, and IgE-mediated sensitization to food and environmental allergens.
    It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and
    knee. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for FLG (see all 21):    
    About MalaCards
    dominant ichthyosis vulgaris    dermatitis, atopic 2    ichthyosis vulgaris    bowenoid papulosis
    molluscum contagiosum    atopic dermatitis    ichthyosis, follicular    epidermolysis bullosa pruriginosa
    x-linked ichthyosis    porokeratosis    dermatitis    congenital ichthyosiform erythroderma
    hypertrophic scars    eczema herpeticum    recessive dystrophic epidermolysis bullosa    contact dermatitis
    hermaphroditism    epidermolytic hyperkeratosis    cholesteatoma    pachyonychia congenita

    12 diseases from the University of Copenhagen DISEASES database for FLG:
    Ichthyosis vulgaris     Atopic dermatitis     Psoriasis     Congenital ichthyosiform erythroderma
    Keratosis     Asthma     Contact dermatitis     X-linked ichthyosis
    Hypersensitivity reaction type I disease     Rheumatoid arthritis     Allergic rhinitis     Epidermolytic hyperkeratosis

    Find genes that share disorders with FLG           About GenesLikeMe

    Selected Novoseek inferred disease relationships for FLG gene (see all 54)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ichthyosis vulgaris 95.8 72 1720750 (4), 7822325 (3), 11121144 (2), 18049447 (2) (see all 40)
    harlequin ichthyosis 83.1 1 15304084 (1)
    dermatitis atopic 82.6 121 18073125 (5), 18313126 (4), 18620134 (4), 17989887 (4) (see all 68)
    keratosis pilaris 77.9 4 18239616 (1), 19681860 (1)
    parakeratosis 75.9 6 9136148 (1), 1362830 (1), 2337405 (1), 9138475 (1) (see all 5)
    ichthyosis 75.7 10 7531997 (2), 18843291 (1), 15590704 (1), 19386895 (1) (see all 6)
    skin diseases 73.1 14 11121144 (2), 9470902 (1), 17502856 (1), 18396323 (1) (see all 11)
    eczema 73 118 18578563 (7), 19501237 (7), 18325573 (5), 20513523 (5) (see all 30)
    congenital ichthyosis 72.4 2 15590704 (1)
    ichthyosis x-linked 68.5 5 17657246 (2), 19785597 (1), 19264210 (1), 20149601 (1)

    Genetic Association Database (GAD): FLG
    Human Genome Epidemiology (HuGE) Navigator: FLG (99 documents)

    Export disorders for FLG gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for FLG gene, integrated from 10 sources (see all 579):
    (articles sorted by number of sources associating them with FLG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (PubMed id 17291859)1, 2, 4, 9 Nomura T.... Shimizu H. (J. Allergy Clin. Immunol. 2007)
    2. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. (PubMed id 16815158)1, 2, 4, 9 Weidinger S.... Novak N. (J. Allergy Clin. Immunol. 2006)
    3. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (PubMed id 16444271)1, 2, 3, 9 Smith F.J.D....McLean W.H.I. (Nat. Genet. 2006)
    4. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. (PubMed id 16550169)1, 2, 4, 9 Palmer C.N.A.... McLean W.H.I. (Nat. Genet. 2006)
    5. Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21. (PubMed id 2740331)1, 2, 3 McKinley-Grant L.J.... Steinert P.M. (Proc. Natl. Acad. Sci. U.S.A. 1989)
    6. FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. (PubMed id 19663875)1, 4, 9 Nemoto-Hasebe I....Shimizu H. (Br. J. Dermatol. 2009)
    7. Filaggrin null mutations are associated with increased asthma severity in children and young adults. (PubMed id 17531295)1, 4, 9 Palmer C.N....Mukhopadhyay S. (J. Allergy Clin. Immunol. 2007)
    8. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. (PubMed id 19681860)1, 4, 9 Brown S.J....Reynolds N.J. (Br. J. Dermatol. 2009)
    9. Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. (PubMed id 19501237)1, 4, 9 RodrA-guez E....Weidinger S. (J. Allergy Clin. Immunol. 2009)
    10. Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure. (PubMed id 18578563)1, 4, 9 Bisgaard H....Custovic A. (PLoS Med. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2312 HGNC: 3748 AceView: FLG.1 Ensembl:ENSG00000143631 euGenes: HUgn2312
    ECgene: FLG H-InvDB: FLG

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for FLG Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FLG[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FLG gene:
    Search GeneIP for patents involving FLG

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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