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FLG2 Gene

protein-coding   GIFtS: 47
GCID: GC01M152321

Filaggrin Family Member 2

  See FLG2-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
Filaggrin Family Member 21 2     filaggrin-22
Intermediate Filament-Associated And Psoriasis-Susceptibility Protein2 3     ifapsoriasin2
FLG-22 3     Intermediate Filament-Associated And Psoriasis Susceptibility Protein2
IFPS2 3     Ifapsoriasin3
Filaggrin 22     

External Ids:    HGNC: 332761   Entrez Gene: 3886982   Ensembl: ENSG000001435207   UniProtKB: Q5D8623   

Export aliases for FLG2 gene to outside databases

Previous GC identifers: GC01M150588 GC01M123694


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FLG2 Gene:
FLG2 (filaggrin family member 2) is a protein-coding gene. Diseases associated with FLG2 include ichthyosis vulgaris, and eczema herpeticum. GO annotations related to this gene include structural molecule activity and calcium ion binding. An important paralog of this gene is RPTN.


(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 FLG2 gene promoter:
         ISGF-3   AML1a   NF-YA   CBF-C   CBF-A   CBF-B   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFLG2 promoter sequence
   Search Chromatin IP Primers for FLG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FLG2


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

FLG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FLG2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M152321:  view genomic region     (about GC identifiers)

Start:
152,321,211 bp from pter      End:
152,332,482 bp from pter
Size:
11,272 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FILA2_HUMAN, Q5D862 (See protein sequence)
Recommended Name: Filaggrin-2  
Size: 2391 amino acids; 248073 Da
Secondary accessions: Q9H4U1

Explore the universe of human proteins at neXtProt for FLG2: NX_Q5D862

Explore proteomics data for FLG2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FLG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001014364.1  
    ENSEMBL proteins: 
     ENSP00000373370  

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    (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 Q5D862

    ProtoNet protein and cluster: Q5D862

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001751 Calcium-binding protein


    UniProtKB/Swiss-Prot: FILA2_HUMAN, Q5D862
    Similarity: Belongs to the S100-fused protein family
    Similarity: In the N-terminal section; belongs to the S-100 family
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 10 filaggrin repeats


    Find genes that share domains with FLG2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with FLG2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FLG2

    miRNA
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    miRTarBase miRNAs that target FLG2:
    hsa-mir-335-5p (MIRT017114)

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    Selected qRT-PCR Assays for microRNAs that regulate FLG2 (see all 10):
    hsa-miR-875-3p hsa-miR-376b hsa-miR-4272 hsa-miR-432 hsa-miR-376a hsa-miR-664 hsa-miR-511 hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidFLG2 3' UTR sequence
    Inhib. RNA
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    (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
    cytosol3
    nucleus3
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA19384417

    Find genes that share ontologies with FLG2           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FLG2
    Interactions:

        Search GeneGlobe Interaction Network for FLG2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for FLG2 (Q5D8622, 3 ENSP000003733704) via UniProtKB, MINT, STRING, and/or I2D (see all 141)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGO1Q9UL182, ENSP000003623004MINT-6488791 STRING: ENSP00000362300
    AMBRA1Q9C0C73I2D: score=1 
    ATG101Q9BSB43I2D: score=1 
    ATG12O948173I2D: score=1 
    ATG13O751433I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0061436establishment of skin barrier IEP--

    Find genes that share ontologies with FLG2           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 FLG2 (FILA2)



    (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 FLG2 gene: 
    NM_001014342.2  

    Unigene Cluster for FLG2:

    Filaggrin family member 2
    Hs.156124  [show with all ESTs]
    Unigene Representative Sequence: NM_001014342
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000388718(uc001ezw.4)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FLG2 (see all 10):
    hsa-miR-875-3p hsa-miR-376b hsa-miR-4272 hsa-miR-432 hsa-miR-376a hsa-miR-664 hsa-miR-511 hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidFLG2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FLG2
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FLG2
      QuantiTect SYBR Green Assays in human, mouse, rat FLG2
      QuantiFast Probe-based Assays in human, mouse, rat FLG2

    Additional mRNA sequence: 

    AY827490.1 BC029685.1 BC063543.1 BC108269.1 

    1 DOTS entry:

    DT.101975905 

    2 AceView cDNA sequences:

    AI332653 BX095286 

    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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    FLG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTTCTGGA
    FLG2 Expression
    About this image

    FLG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FLG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.156124
        Custom PCR Arrays for FLG2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLG2

    (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 FLG2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Flg25 filaggrin family member 2   --   3 (40.14 cM) 93200210 
    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 FLG2 (if available)
    TreeFam Gene Tree for FLG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FLG2 gene
    RPTN2  TCHH2  HRNR2  CRNN2  FLG2  TCHHL12  
    11 SIMAP similar genes for FLG2 using alignment to 2 protein entries:     FILA2_HUMAN (see all proteins):
    S100A9    S100B    S100A12    S100A2    S100P    S100Z
    S100A10    HRNR    FLG    S100A8    S100A11

    Find genes that share paralogs with FLG2           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 FLG2 (see all 11)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs127366061,2,4
    ----see VAR_0428772 mis40--------
    rs18584841,2,4
    ----see VAR_0428762 mis40--------
    rs65876671,2,4
    ----see VAR_0428702 mis40--------
    rs22823021,2,4
    ----see VAR_0428722 mis40--------
    rs22823041,2,4
    ----see VAR_0428692 mis40--------
    rs168339741,2,4
    ----see VAR_0428752 mis40--------
    rs168428651,2,4
    ----see VAR_0428732 mis40--------
    rs38188311,2,4
    ----see VAR_0428682 mis40--------
    rs124111291,2,4
    ----see VAR_0428742 mis40--------
    rs22823031,2,4
    ----see VAR_0428712 mis40--------

    HapMap Linkage Disequilibrium report for FLG2 (152321211 - 152332482 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for FLG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663079CNV Deletion23128226
    esv2043587CNV Deletion18987734
    esv2718151CNV Deletion23290073
    esv2718140CNV Deletion23290073
    esv2664011CNV Deletion23128226
    esv2593579CNV Deletion19546169

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FLG2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for FLG2:    
    About MalaCards
    ichthyosis vulgaris    eczema herpeticum    psoriasis

    3 diseases from the University of Copenhagen DISEASES database for FLG2:
    Ichthyosis vulgaris     Eczema herpeticum     Atopic dermatitis

    Find genes that share disorders with FLG2           About GenesLikeMe

    Genetic Association Database (GAD): FLG2
    Human Genome Epidemiology (HuGE) Navigator: FLG2 (1 document)

    Export disorders for FLG2 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)
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    PubMed articles for FLG2 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with FLG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PubMed id 19601998)1, 4 Stemmler S....Hoffjan S. (Int. J. Immunogenet. 2009)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family. (PubMed id 19384417)1, 9 Wu Z....SchrAPder J.M. (PLoS ONE 2009)
    4. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)
    5. Genetic variants associated with disordered eating. (PubMed id 23568457)1 Wade T.D....Martin N.G. (Int J Eat Disord 2013)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    8. Biochemical and phosphoproteomic analysis of the helix-loop-helix protein E47. (PubMed id 22354994)1 Teachenor R....Murre C. (Mol. Cell. Biol. 2012)
    9. An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)1 Neganova I....Lako M. (Stem Cells 2011)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 388698 HGNC: 33276 AceView: LOC388698 Ensembl:ENSG00000143520 euGenes: HUgn388698
    ECgene: FLG2 H-InvDB: FLG2

    (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)
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    NameDescription
    PharmGKB entry for FLG2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FLG2 gene:
    Search GeneIP for patents involving FLG2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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