Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FLG Gene

protein-coding   GIFtS: 54
GCID: GC01M152274

filaggrin
 Explore 63 diseases affiliated with
FLG via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FLG    

Aliases
for FLG gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Filaggrin1
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


Summaries
for FLG gene

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

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




Genomic Views
for FLG gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 plasmid: FLG promoter sequence
   Search SABiosciences Chromatin IP Primers for FLG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for FLG gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20930

    • FLG Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002007.1  
    ENSEMBL proteins: 
     ENSP00000357789  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for FLG 
    GenScript Custom Purified and Recombinant Proteins Services for FLG
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FLG

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope IEA--
    GO:0005882intermediate filament NAS2740331
    GO:0016023cytoplasmic membrane-bounded vesicle IDA12850301


    FLG for ontologies           About GeneDecksing



    FLG Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FLG 
    GenScript Custom Superior Antibodies Services for FLG
    Novus Biologicals FLG Antibodies
    Search for Antibodies for FLG at Abcam  
    Uscn Antibodies for FLG
    ThermoFisher Antibodies for FLG

    Assay Products for FLG: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FLG
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for FLG

    Protein Domains /
    Families
    for FLG gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FLG for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR020922 Nucleoside-triphosphatase
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR013787 S100_Ca-bd_sub
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P20930

    ProtoNet protein and cluster: P20930

    1 Blocks protein family: 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


    Function
    for FLG gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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@)

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FLG
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate FLG
    SwitchGear 3'UTR luciferase reporter plasmid: FLG 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLG (see all 4)
    OriGene shRNA RFP: FLG
    OriGene siRNA: FLG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLG

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for FLG

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLG
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLG
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FLG (NM_002016)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLG
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLG 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for FLG
    Search LifeMap BioReagents cell lines for FLG

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLG

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS2740331
    GO:0005509calcium ion binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--


    FLG for ontologies           About GeneDecksing


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

    Animal Models:
         9 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Flg):
     cellular  craniofacial  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging 

    FLG for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FLG gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FLG

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

    5/21 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development NAS2740331
    GO:0009143nucleoside triphosphate catabolic process IEA--
    GO:0030216keratinocyte differentiation TAS17704059


    FLG for ontologies           About GeneDecksing



    Drugs & Compounds
    for FLG gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FLG for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FLG
    10/30 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about FLG / FILA 

    Transcripts
    for FLG gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FLG
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate FLG
    SwitchGear 3'UTR luciferase reporter plasmid: FLG 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLG (see all 4)
    OriGene shRNA RFP: FLG
    OriGene siRNA: FLG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLG
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLG
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLG
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FLG (NM_002016)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLG
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLG 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FLG
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FLG
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLG
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLG

    Additional cDNA 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


    Expression
    for FLG gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FLG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGAGCTAAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FLG expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Adult human kidney epithelial cells (Primary Cell)Kidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FLG Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FLG

    SOURCE GeneReport for Unigene cluster: Hs.654510

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

        SABiosciences Custom PCR Arrays for FLG
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FLG
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FLG
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLG
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLG
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLG

    Orthologs
    for FLG gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FLG gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia TCHHL16
    		 --
    		 15(a)
    		 1 → many
    		 GL343369.1(7-2795)
    worm
    (Caenorhabditis elegans)    		 Secernentea CELE_D1086.91 Protein D1086.9 40.86(n)
    26.05(a)    		   179910  NM_001028583.1  NP_001023754.1 


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

    Paralogs
    for FLG gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FLG gene
    FLG22  RPTN2  CRNN2  HRNR2  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

    FLG for paralogs           About GeneDecksing



    Genomic Variants
    for FLG gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1374 NCBI SNPs in FLG are shown (see all 1374)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2011564101,2
    		C,Fother152277816(+) TCATGG/ATGACG 2 /H syn11Minor allele frequency- A:0.01EU 1280
    rs1914909431,2
    		--152274193(+) GGTCAA/GGAGGA 1 -- ds50010--------
    rs1825716991,2
    		--152274618(+) CAAATA/GAGAAT 1 -- ds50010--------
    rs19330611,2
    		C,H,--152274685(+) TACTAA/TAATAT 1 -- ut3115Minor allele frequency- T:0.00NS EA NA WA CSA 648
    rs1140381201,2
    		--152274767(+) TGCTAG/ACCCTG 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs1150534591,2
    		C,F,--152274909(+) TGACCC/TAGAAT 1 -- ut311Minor allele frequency- T:0.08WA 118
    rs1874968281,2
    		--152274929(+) TACTCC/TAGCTA 1 -- ut310--------
    rs120711811,2
    		C,F,A,H,--152274997(+) ATAGCG/ATTTAA 1 -- ut31 ese314Minor allele frequency- A:0.06NS EA NA WA CSA 1320
    rs1927634581,2
    		--152275073(+) GATTGA/TCAGGA 1 -- ut310--------
    rs1396458761,2
    		C,F--152275177(+) TTTCTT/CACTCA 2 /* syn11Minor allele frequency- C:0.00NA 4342

    HapMap Linkage Disequilibrium report for FLG (152274651 - 152297679 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for FLG
         4 CNVs: 5525 74713 84573 64943
         2 Indels: 84574 23973
         1 Inversion: 37082
    Human Gene Mutation Database (HGMD): FLG

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FLG
    DNA2.0 Custom Variant and Variant Library Synthesis for FLG

    Disorders / Diseases
    for FLG gene

    (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.)
    About This Section
    FLG for disorders           About GeneDecksing

    OMIM gene information: 135940   
    OMIM disorders: 146700  605803  
    UniProtKB/Swiss-Prot: FILA_HUMAN, P20930
  • Defects in FLG are the cause of ichthyosis vulgaris (VI) [MIM:146700]; also known as ichthyosis simplex.
    • Ichthyosis vulgaris is 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
  • Defects in FLG are a cause of susceptibility to dermatitis atopic type 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

    20/63 diseases for FLG (see all 63):    About MalaCards
    ichthyosis vulgaris    ichthyosis    epidermolysis bullosa    congenital ichthyosiform erythroderma
    recessive dystrophic epidermolysis bullosa    epidermolysis bullosa pruriginosa    epidermolysis bullosa simplex    molluscum contagiosum
    x-linked ichthyosis    middle ear cholesteatoma    bowenoid papulosis    lichen planus
    dominant ichthyosis vulgaris    epidermolytic hyperkeratosis    pachyonychia congenita    eczema herpeticum
    allergic contact dermatitis    contact dermatitis    dermoid cyst    oral lichen planus

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

    10/54 Novoseek 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

    Publications
    for FLG gene

    (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

    PubMed articles for FLG gene, integrated from 9 sources (see all 542):
    (articles sorted by number of sources associating them with FLG)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (PubMed id 16444271)1, 2, 3, 9 Smith F.J....McLean W.H. (2006)
    2. 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. (1989)
    3. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (PubMed id 17291859)1, 2, 9 Nomura T.... Shimizu H. (2007)
    4. Filaggrin repeat number polymorphism is associated with a dry skin phenotype. (PubMed id 16261374)1, 4, 9 Ginger R.S....Harding C.R. (2005)
    5. Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus. (PubMed id 1429717)1, 2, 9 Presland R.B.... Dale B.A. (1992)
    6. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. (PubMed id 16815158)1, 2, 9 Weidinger S.... Novak N. (2006)
    7. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. (PubMed id 16550169)1, 2, 9 Palmer C.N.A.... McLean W.H.I. (2006)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    9. Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis. (PubMed id 8780679)1, 2 Senshu T.... Asaga H. (1996)
    10. Organization, structure, and polymorphisms of the human profilaggrin gene [published erratum appears in Biochemistry 1991 Jun 11;30(23):5814]. (PubMed id 2248957)1, 3 Gan S.Q.... Steinert P.M. (1990)

    External Searches for FLG gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FLG gene

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

    Other Databases showing FLG gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FLG gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FLG Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLG

    Intellectual Property
    for FLG gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for FLG gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for FLG  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLG   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FLG  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for FLG   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLG   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLG  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FLG   OriGene Custom Protein Services for FLG  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FLG
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FLG
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FLG
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLG
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLG
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLG
     GenScript Custom Purified and Recombinant Proteins Services for FLG GenScript cDNA clones with any tag delivered in your preferred vector for FLG
     GenScript Custom Assay Services for FLG GenScript Custom Superior Antibodies Services for FLG
     GenScript Custom overexpressing Cell Line Services for FLG CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in FLG promoter
     Search Chromatin IP Primers for FLG
     RT2 qPCR Primer Assay in human, mouse, rat FLG
     GNC Network for FLG
     SABiosciences Custom PCR Arrays for FLG
     Search Tocris compounds for FLG
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FLG antibodies
     Search for Antibodies for FLG at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for FLG
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     FLG Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for FLG
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLG
     SwitchGear 3'UTR luciferase reporter plasmids for FLG
     SwitchGear Promoter luciferase reporter plasmids for FLG
     ThermoFisher Antibodies for FLG
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLG
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      FLG gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4