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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FLG2
filaggrin 2
Chromosome 1 Β· 1q21.3
NCBI Gene: 388698Ensembl: ENSG00000143520.6HGNC: HGNC:33276UniProt: Q5D862
113PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleuscytoplasmcell adhesionepidermis morphogenesispeeling skin syndrome 6peeling skin syndromepeeling skin syndrome type Aatopic eczema
✦AI Summary

FLG2 (filaggrin 2) is a structural protein essential for epidermal barrier function and keratinocyte differentiation. It localizes to the cornified envelope and keratohyalin granules of the stratum corneum, where it mediates cell-cell adhesion and contributes to skin barrier mechanical integrity 12. FLG2 expression is dynamically regulated during wound healing, with downregulation observed during reepithelialization as part of the epidermal maturation process 3. In inflammatory skin conditions, FLG2 expression is suppressed by type-2 cytokines (IL-4, IL-13) and IL-22 through STAT-mediated pathways, while the transcription factor GATA3 positively regulates FLG2 expression in keratinocytes 456. FLG2 downregulation is a hallmark of both atopic dermatitis and psoriasis, contributing to barrier dysfunction 78. Mutations in FLG2 are associated with peeling skin syndrome 6 9. Recent evidence suggests FLG2 may serve as a serum biomarker for acute respiratory distress syndrome prognosis 10. These findings position FLG2 as a critical determinant of epidermal barrier integrity and a therapeutic target in filaggrinopathies and inflammatory skin diseases.

Sources cited
1
FLG2 is essential for normal cell-cell adhesion in cornified cell layers
PMID: 29758285
2
FLG2 is important for proper integrity and mechanical strength of the stratum corneum
PMID: 29505760
3
FLG2 is downregulated during reepithelialization, associated with epidermal maturation
PMID: 36555389
4
IL-4 and IL-13 inhibit FLG2 expression via STAT6/STAT3; AHR agonists upregulate FLG2
PMID: 32751111
5
GATA3 transcription factor regulates FLG2 expression in keratinocytes
PMID: 28928464
6
IL-4, IL-13, and IL-22 downregulate FLG2 expression; reduced in AD lesions
PMID: 40985485
7
FLG2 terminal differentiation marker significantly downregulated in AD and psoriasis
PMID: 32709423
8
FLG2 downregulation models barrier defects characteristic of AD and psoriasis
PMID: 36178084
9
FLG2 mutations cause filaggrinopathies including peeling skin syndrome 6
PMID: 39927906
10
FLG2 identified as serum biomarker for ARDS prognosis prediction
PMID: 38956604
Disease Associationsβ“˜21
peeling skin syndrome 6Open Targets
0.70Strong
peeling skin syndromeOpen Targets
0.37Weak
peeling skin syndrome type AOpen Targets
0.37Weak
atopic eczemaOpen Targets
0.28Weak
sign or symptomOpen Targets
0.27Weak
asthmaOpen Targets
0.26Weak
allergic diseaseOpen Targets
0.21Weak
systemic sclerodermaOpen Targets
0.16Weak
Aganglionic megacolonOpen Targets
0.12Weak
allergic rhinitisOpen Targets
0.08Suggestive
dermatophytosisOpen Targets
0.07Suggestive
Decreased total leukocyte countOpen Targets
0.06Suggestive
dermatomycosisOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
scleritisOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.02Suggestive
Cutaneous T-cell lymphomaOpen Targets
0.02Suggestive
Peeling skin syndrome 6UniProt
Pathogenic Variants4
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter)Pathogenic
Peeling skin syndrome 6|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 211
NM_001014342.3(FLG2):c.955_958del (p.Ser319fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 319
NM_001014342.3(FLG2):c.3557del (p.Gly1185_Ser1186insTer)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 1185
NM_001014342.3(FLG2):c.1065T>A (p.Tyr355Ter)Pathogenic
Peeling skin syndrome 6
β˜†β˜†β˜†β˜†2018β†’ Residue 355
View on ClinVar β†—
Related Genes
TGM3Protein interaction100%LCE2BProtein interaction100%KLK7Protein interaction89%SPINK5Protein interaction89%KLK5Protein interaction89%PADI3Protein interaction83%
Tissue Expression6 tissues
Ovary
100%
Liver
86%
Lung
73%
Bone Marrow
17%
Brain
14%
Heart
13%
Gene Interaction Network
Click a node to explore
FLG2TGM3LCE2BKLK7SPINK5KLK5PADI3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5D862
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.52 [0.80–1.93]
RankingsWhere FLG2 stands among ~20K protein-coding genes
  • #4,186of 20,598
    Most Researched113 Β· top quartile
  • #3,731of 5,498
    Most Pathogenic Variants4
  • #17,514of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedFLG2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Gene Expression Linked to Reepithelialization of Human Skin Wounds.
PMID: 36555389
Int J Mol Sci Β· 2022
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
Integrative multi-omics analysis unravels the host response landscape and reveals a serum protein panel for early prognosis prediction for ARDS.
PMID: 38956604
Crit Care Β· 2024
0.70
5
Tape strips detect distinct immune and barrier profiles in atopic dermatitis and psoriasis.
PMID: 32709423
J Allergy Clin Immunol Β· 2021
0.60