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Aliases for FLG2 Gene

Aliases for FLG2 Gene

  • Filaggrin Family Member 2 2 3
  • Intermediate Filament-Associated And Psoriasis-Susceptibility Protein 3 4
  • Ifapsoriasin 3 4
  • FLG-2 3 4
  • IFPS 3 4
  • Intermediate Filament-Associated And Psoriasis Susceptibility Protein 3
  • Filaggrin 2 3

External Ids for FLG2 Gene

Previous GeneCards Identifiers for FLG2 Gene

  • GC01M150588
  • GC01M123694

Summaries for FLG2 Gene

GeneCards Summary for FLG2 Gene

FLG2 (Filaggrin Family Member 2) is a Protein Coding gene. Diseases associated with FLG2 include intussusception and meckel's diverticulum. GO annotations related to this gene include calcium ion binding and structural molecule activity. An important paralog of this gene is TCHHL1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLG2 Gene

Genomics for FLG2 Gene

Regulatory Elements for FLG2 Gene

Genomic Location for FLG2 Gene

152,348,735 bp from pter
152,360,010 bp from pter
11,276 bases
Minus strand

Genomic View for FLG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FLG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLG2 Gene

Proteins for FLG2 Gene

  • Protein details for FLG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q9H4U1

    Protein attributes for FLG2 Gene

    2391 amino acids
    Molecular mass:
    248073 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FLG2 Gene

Proteomics data for FLG2 Gene at MOPED

Post-translational modifications for FLG2 Gene

  • Deiminated by PADI1, PADI2 or PADI3 in vitro. The deiminated form is degraded by calpain-1/CAPN1 more quickly and into shorter peptides than the intact protein.
  • May be processed by calpain-1/CAPN1 in the uppermost epidermal layers.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FLG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FLG2 Gene

Domains & Families for FLG2 Gene

Gene Families for FLG2 Gene

Suggested Antigen Peptide Sequences for FLG2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 EF-hand domains.
  • Belongs to the S100-fused protein family.
  • Contains 10 filaggrin repeats.
  • Contains 2 EF-hand domains.
  • Belongs to the S100-fused protein family.
  • In the N-terminal section; belongs to the S-100 family.
  • Contains 10 filaggrin repeats.
genes like me logo Genes that share domains with FLG2: view

Function for FLG2 Gene

Molecular function for FLG2 Gene

UniProtKB/Swiss-Prot Induction:
In cultured foreskin fibroblasts, up-regulated in response to Ca(2+) stimulation.

Gene Ontology (GO) - Molecular Function for FLG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with FLG2: view

Phenotypes for FLG2 Gene

GenomeRNAi human phenotypes for FLG2:
genes like me logo Genes that share phenotypes with FLG2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FLG2 Gene

Localization for FLG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLG2 Gene

Cytoplasm. Cytoplasmic granule. Note=In the stratum corneum of the epidermis, dispersed diffusely throughout the cytoplasm, while in the stratum granulosum, localized within keratohyalin granules (PubMed:19384417) (PubMed:21531719). In granular keratinocytes and in lower corneocytes, colocalizes with calpain-1/CAPN1. {ECO:0000269 PubMed:19384417, ECO:0000269 PubMed:21531719}.

Subcellular locations from

Jensen Localization Image for FLG2 Gene COMPARTMENTS Subcellular localization image for FLG2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for FLG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IDA 19384417
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with FLG2: view

Pathways & Interactions for FLG2 Gene

SuperPathways for FLG2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FLG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061436 establishment of skin barrier IEP 23403047
genes like me logo Genes that share ontologies with FLG2: view

No data available for Pathways by source and SIGNOR curated interactions for FLG2 Gene

Drugs & Compounds for FLG2 Gene

No Compound Related Data Available

Transcripts for FLG2 Gene

mRNA/cDNA for FLG2 Gene

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

Unigene Clusters for FLG2 Gene

Filaggrin family member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FLG2 Gene

No ASD Table

Relevant External Links for FLG2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FLG2 Gene

mRNA expression in normal human tissues for FLG2 Gene

mRNA differential expression in normal tissues according to GTEx for FLG2 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x30.8) and Skin - Not Sun Exposed (Suprapubic) (x21.8).

Protein differential expression in normal tissues from HIPED for FLG2 Gene

This gene is overexpressed in Urinary Bladder (33.3), Bone (8.6), and Cerebrospinal fluid (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FLG2 Gene

SOURCE GeneReport for Unigene cluster for FLG2 Gene Hs.156124

mRNA Expression by UniProt/SwissProt for FLG2 Gene

Tissue specificity: Expressed in skin, thymus, stomach and placenta, but not detected in heart, brain, liver, lung, bone marrow, small intestine, spleen, prostate, colon, adrenal gland, kidney, pancreas, mammary gland, bladder, thyroid, salivary gland and trachea. Weakly expressed in esophagus, tonsils and testis (at protein level). In the skin, strongly expressed in the upper stratum granulosum and lower stratum corneum, but not detected in the upper stratum corneum (at protein level) (PubMed:19384417) (PubMed:21531719). In scalp hair follicles, mainly restricted within the granular and cornified cells surrounding the infundibular outer root sheath, with weak expression in central and proximal outer root sheath (at protein level). Tends to be down-regulated in sporiatic lesions compared to non-lesional skin inthe same patients (PubMed:19384417).
genes like me logo Genes that share expression patterns with FLG2: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for FLG2 Gene

Orthologs for FLG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FLG2 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Flg2 16
Flg2 36
  • 25 (a)
(Bos Taurus)
Mammalia FLG2 36
  • 17 (a)
(Canis familiaris)
Mammalia FLG2 36
  • 21 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 26 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 31 (a)
(Pan troglodytes)
Mammalia FLG2 36
  • 48 (a)
(Gallus gallus)
Aves CRNN 36
  • 16 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 13 (a)
Species with no ortholog for FLG2:
  • 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)
  • 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 FLG2 Gene

Gene Tree for FLG2 (if available)
Gene Tree for FLG2 (if available)

Paralogs for FLG2 Gene

Paralogs for FLG2 Gene

(11) SIMAP similar genes for FLG2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FLG2: view

Variants for FLG2 Gene

Sequence variations from dbSNP and Humsavar for FLG2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
VAR_042868 -
VAR_042869 -
VAR_042870 -
VAR_042871 -
VAR_042872 -

Structural Variations from Database of Genomic Variants (DGV) for FLG2 Gene

Variant ID Type Subtype PubMed ID
esv2593579 CNV Deletion 19546169
esv2043587 CNV Deletion 18987734
esv2664011 CNV Deletion 23128226
esv2718140 CNV Deletion 23290073
esv2718151 CNV Deletion 23290073
esv2663079 CNV Deletion 23128226

Variation tolerance for FLG2 Gene

Residual Variation Intolerance Score: 77.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.95; 97.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLG2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLG2 Gene

Disorders for FLG2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FLG2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
  • intussusception nos
meckel's diverticulum
  • meckel diverticulum
- elite association
Search FLG2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FLG2

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 FLG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FLG2 Gene

Publications for FLG2 Gene

  1. Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family. (PMID: 19384417) Wu Z. … SchrAPder J.M. (PLoS ONE 2009) 2 23 67
  2. Large-scale identification of human genes implicated in epidermal barrier function. (PMID: 17562024) Toulza E. … Guerrin M. (Genome Biol. 2007) 23 67
  3. Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. (PMID: 17030239) Marenholz I. … Lee Y.-A. (J. Allergy Clin. Immunol. 2006) 23 67
  4. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 67
  5. hnRNPA1 couples nuclear export and translation of specific mRNAs downstream of FGF-2/S6K2 signalling. (PMID: 25324306) Roy R. … Pardo O.E. (Nucleic Acids Res. 2014) 67

Products for FLG2 Gene

Sources for FLG2 Gene

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