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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FLG
filaggrin
Chromosome 1 Β· 1q21.3
NCBI Gene: 2312Ensembl: ENSG00000143631.11HGNC: HGNC:3748UniProt: P20930
461PubMed Papers
22Diseases
0Drugs
245Pathogenic Variants
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
keratohyalin granulenucleuscytoplasmic ribonucleoprotein granulestructural constituent of skin epidermisatopic eczemaEczematoid dermatitisichthyosis vulgarisasthma
✦AI Summary

FLG encodes filaggrin, a critical structural protein essential for epidermal barrier function and terminal keratinocyte differentiation 1. The protein aggregates keratin intermediate filaments and serves as a source of natural moisturizing factor (NMF) components including pyrrolidone carboxylic acid and urocanic acid 23. FLG expression is tightly regulated by inflammatory cytokines, with IL-4, IL-13, IL-17A, and IL-22 inhibiting its expression through STAT6 and STAT3 pathways, while aryl hydrocarbon receptor (AHR) activation upregulates FLG expression 45. Loss-of-function mutations in FLG are major predisposing factors for ichthyosis vulgaris and atopic dermatitis, with different mutation spectra observed across populations 6. FLG deficiency results in compromised epidermal barrier function, demonstrated by increased transepidermal water loss and altered stratum corneum structure 1. Environmental factors like particulate matter can suppress FLG expression through TNF-Ξ± and AHR-dependent mechanisms, contributing to barrier dysfunction 2. The IL-13-OVOL1-FLG axis is particularly important in atopic dermatitis pathogenesis, making IL-13 blockade a successful therapeutic approach 5. Beyond skin diseases, FLG mutations have been associated with increased tumor mutation burden in prostate cancer 7.

Sources cited
1
FLG is essential for epidermal barrier function and keratinocyte differentiation, with deficiency causing compromised barrier function
PMID: 36893939
2
FLG serves as source of NMF components and can be suppressed by particulate matter through TNF-Ξ±/AHR pathways
PMID: 33497363
3
FLG expression is inhibited by IL-4/IL-13/IL-17A/IL-22 through STAT pathways and upregulated by AHR activation
PMID: 32751111
4
IL-13-OVOL1-FLG axis is crucial in atopic dermatitis pathogenesis
PMID: 31509236
5
FLG mutations cause ichthyosis vulgaris and predispose to atopic dermatitis with population-specific mutation spectra
PMID: 19958351
6
Filaggrin functions as filament-aggregating protein and source of natural moisturizing factor
PMID: 23517450
7
FLG mutations associated with increased tumor mutation burden in prostate cancer
PMID: 35422210
Disease Associationsβ“˜22
atopic eczemaOpen Targets
0.79Strong
Eczematoid dermatitisOpen Targets
0.74Strong
ichthyosis vulgarisOpen Targets
0.74Strong
asthmaOpen Targets
0.73Strong
dermatitisOpen Targets
0.69Moderate
skin diseaseOpen Targets
0.68Moderate
Abnormality of the skeletal systemOpen Targets
0.65Moderate
childhood onset asthmaOpen Targets
0.65Moderate
contact dermatitisOpen Targets
0.65Moderate
dermatophytosisOpen Targets
0.64Moderate
autosomal dominant ichthyosis vulgarisOpen Targets
0.62Moderate
allergic diseaseOpen Targets
0.62Moderate
respiratory system diseaseOpen Targets
0.61Moderate
Follicular CystOpen Targets
0.60Moderate
seborrheic keratosisOpen Targets
0.59Moderate
seasonal allergic rhinitisOpen Targets
0.58Moderate
allergic rhinitisOpen Targets
0.56Moderate
skin neoplasmOpen Targets
0.55Moderate
sebaceous gland diseaseOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.53Moderate
Dermatitis atopic 2UniProt
Ichthyosis vulgarisUniProt
Pathogenic Variants245
NM_002016.2(FLG):c.1714C>T (p.Arg572Ter)Pathogenic
not provided|Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2026β†’ Residue 572
NM_002016.2(FLG):c.1279G>T (p.Gly427Ter)Pathogenic
not provided|Ichthyosis and erythrokeratoderma
β˜…β˜…β˜†β˜†2026β†’ Residue 427
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter)Pathogenic
not provided|Ichthyosis vulgaris|Dermatitis, atopic, 2;Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2026β†’ Residue 2417
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)Pathogenic
not provided|Dermatitis, atopic, 2;Ichthyosis vulgaris|Ichthyosis vulgaris|Dermatitis, atopic, 2|FLG-related disorder|Dermatitis, atopic|Inborn genetic diseases|Ichthyosis and erythrokeratoderma
β˜…β˜…β˜†β˜†2026β†’ Residue 2447
NM_002016.2(FLG):c.1830del (p.Arg612fs)Pathogenic
not provided|Inborn genetic diseases|Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2026β†’ Residue 612
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)Pathogenic
not provided|Dermatitis, atopic, 2|Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2026β†’ Residue 2613
NM_002016.2(FLG):c.557dup (p.Asn186fs)Pathogenic
not provided|Dermatitis, atopic, 2;Ichthyosis vulgaris|Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2026β†’ Residue 186
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)Pathogenic
Inborn genetic diseases|not provided|Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2025β†’ Residue 2080
NM_002016.2(FLG):c.11227C>T (p.Arg3743Ter)Pathogenic
not provided|Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2025β†’ Residue 3743
NM_002016.2(FLG):c.3321del (p.Gly1109fs)Pathogenic
Ichthyosis vulgaris|Dermatitis, atopic, 2, susceptibility to|not provided|Dermatitis, atopic, 2;Ichthyosis vulgaris|Autosomal dominant ichthyosis vulgaris|Dermatitis, atopic, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 1109
NM_002016.2(FLG):c.7267_7268del (p.Gln2423fs)Pathogenic
not provided|Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2025β†’ Residue 2423
NM_002016.2(FLG):c.3418C>T (p.Arg1140Ter)Pathogenic
not provided|Ichthyosis vulgaris|Ichthyosis vulgaris;Dermatitis, atopic, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 1140
NM_002016.2(FLG):c.3837del (p.Ser1280fs)Pathogenic
not provided|Ichthyosis vulgaris
β˜…β˜…β˜†β˜†2025β†’ Residue 1280
NM_002016.2(FLG):c.3702del (p.Ser1235fs)Pathogenic
not provided|Ichthyosis vulgaris|Incidental Discovery
β˜…β˜…β˜†β˜†2025β†’ Residue 1235
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)Pathogenic
Ichthyosis vulgaris|Dermatitis, atopic, 2, susceptibility to|not provided|Atopic eczema;Ichthyosis vulgaris|Ichthyosis vulgaris;Dermatitis, atopic, 2|Dermatitis, atopic, 2|Eczematoid dermatitis|FLG-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 501
NM_002016.2(FLG):c.7003dup (p.Gln2335fs)Pathogenic
not provided|Autosomal dominant and autosomal recessive FLG-related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 2335
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter)Pathogenic
not provided|Ichthyosis vulgaris|Dermatitis, atopic, 2;Ichthyosis vulgaris|FLG-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 788
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter)Pathogenic
not provided|Ichthyosis vulgaris|Inborn genetic diseases|Dermatitis, atopic, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 1515
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)Pathogenic
not provided|Ichthyosis vulgaris|FLG-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 32
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)Pathogenic
Inborn genetic diseases|not provided|Ichthyosis vulgaris|Dermatitis, atopic, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 2344
View on ClinVar β†—
Related Genes
KRT5Protein interaction100%DSPProtein interaction95%SPRR1BProtein interaction94%KRT1Protein interaction92%CDSNProtein interaction91%EVPLProtein interaction91%
Tissue Expression6 tissues
Ovary
100%
Heart
44%
Lung
32%
Liver
25%
Bone Marrow
12%
Brain
2%
Gene Interaction Network
Click a node to explore
FLGKRT5DSPSPRR1BKRT1CDSNEVPL
PROTEIN STRUCTURE
Preparing viewer…
PDB4PCW Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.51 [0.83–1.93]
RankingsWhere FLG stands among ~20K protein-coding genes
  • #588of 20,598
    Most Researched461 Β· top 5%
  • #259of 5,498
    Most Pathogenic Variants245 Β· top 5%
  • #17,498of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedFLG
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Particulate matter causes skin barrier dysfunction.
PMID: 33497363
JCI Insight Β· 2021
1.00
2
Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.
PMID: 32751111
Int J Mol Sci Β· 2020
0.90
3
Filaggrinopathies-FLG/FLG2: Diagnostic Complexities and Immunotherapy.
PMID: 39927906
J Invest Dermatol Β· 2025
0.80
4
The IL-13-OVOL1-FLG axis in atopic dermatitis.
PMID: 31509236
Immunology Β· 2019
0.70
5
Massively Parallel Sequencingof the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy.
PMID: 33047146
Acta Derm Venereol Β· 2020
0.68