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Aliases for FLG Gene

Aliases for FLG Gene

  • Filaggrin 2 3
  • ATOD2 3 6
  • Epidermal Filaggrin 3

External Ids for FLG Gene

Summaries for FLG Gene

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. Among its related pathways are AhR pathway (WikiPathways). GO annotations related to this gene include calcium ion binding and structural molecule activity. An important paralog of this gene is TCHHL1.

UniProtKB/Swiss-Prot for FLG Gene

  • Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLG Gene

Genomics for FLG Gene

Genomic Location for FLG Gene

Start:
152,302,175 bp from pter
End:
152,325,203 bp from pter
Size:
23,029 bases
Orientation:
Minus strand

Genomic View for FLG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FLG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLG Gene

Proteins for FLG Gene

  • Protein details for FLG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20930-FILA_HUMAN
    Recommended name:
    Filaggrin
    Protein Accession:
    P20930
    Secondary Accessions:
    • Q01720
    • Q5T583
    • Q9UC71

    Protein attributes for FLG Gene

    Size:
    4061 amino acids
    Molecular mass:
    435170 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FLG Gene

Proteomics data for FLG Gene at MOPED

Post-translational modifications for FLG Gene

  • 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 pyroglutamate
  • Undergoes deimination of some arginine residues (citrullination).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FLG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FLG Gene

Domains for FLG Gene

Gene Families for FLG Gene

HGNC:
  • EFHAND :EF-hand domain containing

UniProtKB/Swiss-Prot:

FILA_HUMAN
Domain:
  • Contains 2 EF-hand domains.:
    • P20930
Family:
  • Belongs to the S100-fused protein family.:
    • P20930
Similarity:
  • Contains 23 filaggrin repeats.:
    • P20930
genes like me logo Genes that share domains with FLG: view

Function for FLG Gene

Molecular function for FLG Gene

GENATLAS Biochemistry: 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@)
UniProtKB/Swiss-Prot Function: Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis

Gene Ontology (GO) - Molecular Function for FLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 2740331
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 23629652
genes like me logo Genes that share ontologies with FLG: view
genes like me logo Genes that share phenotypes with FLG: view

Animal Models for FLG Gene

MGI Knock Outs for FLG:

miRNA for FLG Gene

miRTarBase miRNAs that target FLG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FLG Gene

Localization for FLG Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLG Gene COMPARTMENTS Subcellular localization image for FLG gene
Compartment Confidence
cytoskeleton 5
cytosol 2
extracellular 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005882 intermediate filament NAS 2740331
GO:0016023 cytoplasmic membrane-bounded vesicle IDA 12850301
genes like me logo Genes that share ontologies with FLG: view

Pathways for FLG Gene

SuperPathways for FLG Gene

Superpath Contained pathways
1 AhR pathway (WikiPathways)
genes like me logo Genes that share pathways with FLG: view

Pathways by source for FLG Gene

1 BioSystems pathway for FLG Gene

Gene Ontology (GO) - Biological Process for FLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development NAS 2740331
GO:0030216 keratinocyte differentiation TAS 17704059
GO:0061436 establishment of skin barrier IEP 23403047
genes like me logo Genes that share ontologies with FLG: view

Compounds for FLG Gene

(30) Novoseek inferred chemical compound relationships for FLG Gene

Compound -log(P) Hits PubMed IDs
citrulline 58.3 6
retinoic acid 44.5 17
calcipotriol 40.7 1
dithranol 39.8 2
retinoid 35.3 4
genes like me logo Genes that share compounds with FLG: view

Transcripts for FLG Gene

mRNA/cDNA for FLG Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FLG Gene

Filaggrin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FLG Gene

No ASD Table

Relevant External Links for FLG Gene

GeneLoc Exon Structure for
FLG
ECgene alternative splicing isoforms for
FLG

Expression for FLG Gene

mRNA expression in normal human tissues for FLG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FLG Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (31.1) and Skin - Not Sun Exposed (Suprapubic) (17.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FLG Gene

SOURCE GeneReport for Unigene cluster for FLG Gene Hs.654510

mRNA Expression by UniProt/SwissProt for FLG Gene

P20930-FILA_HUMAN
Tissue specificity: Keratohyalin granules.
genes like me logo Genes that share expressions with FLG: view

Orthologs for FLG Gene

This gene was present in the common ancestor of chordates.

Orthologs for FLG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FLG 36
  • 92.7 (n)
  • 86.67 (a)
FLG 37
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Flg 16
oppossum
(Monodelphis domestica)
Mammalia FLG 37
  • 19 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 22 (a)
OneToMany
chicken
(Gallus gallus)
Aves CRNN 37
  • 16 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 13 (a)
OneToMany
Species with no ortholog for FLG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FLG Gene

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

Paralogs for FLG Gene

Paralogs for FLG Gene

genes like me logo Genes that share paralogs with FLG: view

Variants for FLG Gene

Sequence variations from dbSNP and Humsavar for FLG Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1933061 -- 152,302,209(+) TACTA(A/T)AATAT utr-variant-3-prime
rs2065955 -, - 152,304,579(+) GGTGT(C/G)CACGA missense, reference
rs2065956 -- 152,304,869(+) CTGGC(C/T)TGACT synonymous-codon, reference
rs2065957 - 152,305,350(+) GTGAC(A/C)CTGAG missense, reference
rs2065958 -, - 152,305,573(+) ACCGT(A/C)TTGGG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for FLG Gene

Variant ID Type Subtype PubMed ID
esv1003613 OTHER Inversion 20482838
nsv7183 OTHER Inversion 18451855
esv25681 CNV Loss 19812545
nsv471348 CNV Duplication 19718026
esv2718117 CNV Deletion 23290073
nsv821364 CNV Duplication 20802225
esv2669572 CNV Deletion 23128226
esv1330223 CNV Deletion 17803354
esv2718128 CNV Deletion 23290073
esv2671163 CNV Deletion 23128226
nsv824653 CNV Loss 20364138
nsv159623 CNV Loss 16902084
esv2665362 CNV Deletion 23128226

Relevant External Links for FLG Gene

HapMap Linkage Disequilibrium report
FLG
Human Gene Mutation Database (HGMD)
FLG

Disorders for FLG Gene

(2) OMIM Diseases for FLG Gene (135940)

UniProtKB/Swiss-Prot

FILA_HUMAN
  • 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. {ECO:0000269 PubMed:16444271}. 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. {ECO:0000269 PubMed:16550169, ECO:0000269 PubMed:16815158, ECO:0000269 PubMed:17030239, ECO:0000269 PubMed:17291859}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(54) Novoseek inferred disease relationships for FLG Gene

Disease -log(P) Hits PubMed IDs
ichthyosis vulgaris 95.8 55
harlequin ichthyosis 83.1 1
dermatitis atopic 82.6 93
keratosis pilaris 77.9 2
parakeratosis 75.9 5

Relevant External Links for FLG

Genetic Association Database (GAD)
FLG
Human Genome Epidemiology (HuGE) Navigator
FLG
genes like me logo Genes that share disorders with FLG: view

Publications for FLG Gene

  1. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (PMID: 16444271) Smith F.J.D. … McLean W.H.I. (Nat. Genet. 2006) 2 3 4 23
  2. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. (PMID: 16550169) Palmer C.N.A. … McLean W.H.I. (Nat. Genet. 2006) 3 4 23 49
  3. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. (PMID: 16815158) Weidinger S. … Novak N. (J. Allergy Clin. Immunol. 2006) 3 4 23 49
  4. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (PMID: 17291859) Nomura T. … Shimizu H. (J. Allergy Clin. Immunol. 2007) 3 4 23 49
  5. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. (PMID: 16990802) Barker J.N. … McLean W.H. (J. Invest. Dermatol. 2007) 3 23 49

Products for FLG Gene

Sources for FLG Gene

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