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Aliases for FLG Gene

Aliases for FLG Gene

  • Filaggrin 2 3 3 5
  • Epidermal Filaggrin 3
  • ATOD2 3

External Ids for FLG Gene

Previous GeneCards Identifiers for FLG Gene

  • GC01M150115
  • GC01M148057
  • GC01M149049
  • GC01M149491
  • GC01M149089
  • GC01M150541
  • GC01M123649

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 Ichthyosis Vulgaris and Dermatitis, Atopic 2. Among its related pathways are Developmental Biology. GO annotations related to this gene include calcium ion binding and structural molecule activity. An important paralog of this gene is HRNR.

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

Regulatory Elements for FLG Gene

Enhancers for FLG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F152188 0.4 ENCODE 13.3 +136.2 136194 1.3 CTCF SIN3A RAD21 ZNF664 GATA3 ZBTB48 POLR2A PATZ1 SCRT2 ZNF143 FLG-AS1 HRNR FLG PIR41917
GH01F152229 0.8 ENCODE 10 +96.2 96198 0.1 FOS ENSG00000236427 FLG TCHH FLG2 HRNR PIR46233
GH01F152392 0.6 ENCODE 9.8 -67.8 -67763 0.2 PKNOX1 INSM2 FEZF1 RAD21 SCRT2 RCOR1 KLF7 FOS ZNF362 SP3 FLG2 FLG HMGN3P1 GC01P152378
GH01F152070 0.2 ENCODE 9.8 +253.9 253852 0.9 HDAC1 PKNOX1 CBX3 ATF1 TBL1XR1 JUN ZNF175 IRF9 FOXK2 GATA2 S100A11 TCHH ENSG00000226716 PUDPP2 FLG SPTLC1P4 LOC101927949
GH01F151508 0.9 FANTOM5 Ensembl ENCODE 6.8 +812.1 812139 8.9 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 CBX5 FOS SP3 SP5 CGN C1orf56 SCNM1 SETDB1 FLG TUFT1 C2CD4D RORC SELENBP1 ENSG00000252840
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FLG on UCSC Golden Path with GeneCards custom track

Genomic Location for FLG Gene

152,302,163 bp from pter
152,325,257 bp from pter
23,095 bases
Minus strand

Genomic View for FLG Gene

Genes around FLG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q01720
    • Q5T583
    • Q9UC71

    Protein attributes for FLG Gene

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

    Three dimensional structures from OCA and Proteopedia for FLG Gene

neXtProt entry for FLG Gene

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:

Antibody Products

No data available for DME Specific Peptides for FLG Gene

Domains & Families for FLG Gene

Suggested Antigen Peptide Sequences for FLG Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 EF-hand domains.
  • Belongs to the S100-fused protein family.
  • Contains 23 filaggrin repeats.
  • Contains 2 EF-hand domains.
  • Belongs to the S100-fused protein family.
  • Contains 23 filaggrin repeats.
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.
UniProtKB/Swiss-Prot Induction:
In cultured foreskin fibroblasts, up-regulated in response to Ca(2+) stimulation.

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
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FLG: view
genes like me logo Genes that share phenotypes with FLG: view

Human Phenotype Ontology for FLG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FLG Gene

miRTarBase miRNAs that target FLG

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for FLG Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLG Gene

Cytoplasmic granule. Note=In the stratum granulosum of the epidermis, localized within keratohyalin granules (PubMed:1429717). In granular keratinocytes and in lower corneocytes, colocalizes with calpain-1/CAPN1 (PubMed:21531719). {ECO:0000269 PubMed:1429717, ECO:0000269 PubMed:21531719}.

Subcellular locations from

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

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:0036457 keratohyalin granule IDA 1429717
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with FLG: view

Pathways & Interactions for FLG Gene

SuperPathways for FLG Gene

SuperPathway Contained pathways
1 Developmental Biology
genes like me logo Genes that share pathways with FLG: view

Pathways by source for FLG Gene

1 Reactome pathway for FLG Gene

Gene Ontology (GO) - Biological Process for FLG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism 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

No data available for SIGNOR curated interactions for FLG Gene

Drugs & Compounds for FLG Gene

(20) Drugs for FLG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for FLG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FLG: view

Transcripts for FLG Gene

mRNA/cDNA for FLG Gene

(1) 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

Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FLG Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FLG Gene

mRNA expression in normal human tissues for FLG Gene

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x31.1) and Skin - Not Sun Exposed (Suprapubic) (x17.7).

Protein differential expression in normal tissues from HIPED for FLG Gene

This gene is overexpressed in Urinary Bladder (31.0) and Skin (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FLG Gene

NURSA nuclear receptor signaling pathways regulating expression of FLG Gene:


SOURCE GeneReport for Unigene cluster for FLG Gene:


mRNA Expression by UniProt/SwissProt for FLG Gene:

Tissue specificity: Expressed in skin, thymus, stomach, tonsils, testis, placenta, kidney, pancreas, mammary gland, bladder, thyroid, salivary gland and trachea, but not detected in heart, brain, liver, lung, bone marrow, small intestine, spleen, prostate, colon, or adrenal gland (PubMed:19384417). In the skin, mainly expressed in stratum granulosum of the epidermis (PubMed:1429717) (PubMed:19384417).
genes like me logo Genes that share expression patterns with FLG: view

Primer Products

No data available for Protein tissue co-expression partners for FLG Gene

Orthologs for FLG Gene

This gene was present in the common ancestor of chordates.

Orthologs for FLG Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FLG 34 35
  • 92.7 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 22 (a)
(Monodelphis domestica)
Mammalia FLG 35
  • 19 (a)
(Gallus gallus)
Aves CRNN 35
  • 16 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 13 (a)
Species where no ortholog for FLG was found in the sources mined by GeneCards:
  • 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)
  • mouse (Mus musculus)
  • 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

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

Paralogs for FLG Gene

Variants for FLG Gene

Sequence variations from dbSNP and Humsavar for FLG Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs115746363 Pathogenic 152,312,410(+) GTCTC(A/G)TGCCT upstream-variant-2KB, reference, stop-gained
rs121909626 Pathogenic 152,307,225(-) ACAAT(C/G)AGAGG reference, stop-gained
rs138726443 Pathogenic 152,307,547(+) GTCTC(A/G)TGCCT reference, stop-gained
rs147145234 Pathogenic 152,308,647(+) CCCCT(G/T)ACTGG reference, stop-gained
rs150597413 Pathogenic 152,305,146(+) GCCTT(A/G/T)ACTGC reference, missense, stop-gained

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

Variant ID Type Subtype PubMed ID
esv1003613 OTHER inversion 20482838
esv1330223 CNV deletion 17803354
esv25681 CNV loss 19812545
esv2665362 CNV deletion 23128226
esv2669572 CNV deletion 23128226
esv2671163 CNV deletion 23128226
esv2718117 CNV deletion 23290073
esv2718128 CNV deletion 23290073
esv3394198 CNV duplication 20981092
esv3587546 CNV gain 21293372
nsv1014095 CNV gain 25217958
nsv1110152 CNV duplication 24896259
nsv1115370 CNV duplication 24896259
nsv1152559 CNV duplication 26484159
nsv159623 CNV deletion 16902084
nsv471348 CNV gain 19718026
nsv7183 OTHER inversion 18451855
nsv821364 CNV duplication 20802225
nsv824653 CNV loss 20364138
nsv952208 CNV deletion 24416366
nsv998298 CNV loss 25217958

Variation tolerance for FLG Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 27.35; 99.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLG Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLG Gene

Disorders for FLG Gene

MalaCards: The human disease database

(53) MalaCards diseases for FLG Gene - From: OMIM, ClinVar, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis vulgaris
  • dominant congenital ichthyosiform erythroderma
dermatitis, atopic 2
  • atopic dermatitis 2
dominant ichthyosis vulgaris
  • ichthyosis vulgaris
  • eczema
atopic dermatitis
  • eczema
- elite association - COSMIC cancer census association via MalaCards
Search FLG in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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.

Relevant External Links for FLG

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FLG: view

No data available for Genatlas for FLG Gene

Publications for FLG Gene

  1. 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 22 46 64
  2. 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 22 46 64
  3. Human leukocyte antigen (DR1)-DQB1*0501 and (DR15)-DQB1*0602 haplotypes are associated with humoral responses to early food allergens in children. (PMID: 20016199) Savilahti E.M. … Savilahti E. (Int. Arch. Allergy Immunol. 2010) 3 22 46 64
  4. Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. (PMID: 20109745) O'Regan G.M. … Brown S.J. (J. Allergy Clin. Immunol. 2010) 3 22 46 64
  5. Elder siblings enhance the effect of filaggrin mutations on childhood eczema: results from the 2 birth cohort studies LISAplus and GINIplus. (PMID: 20513523) Cramer C. … KrAomer U. (J. Allergy Clin. Immunol. 2010) 3 22 46 64

Products for FLG Gene

Sources for FLG Gene

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