FLG2 Chromosome 1
Filaggrin 2
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What This Gene Does
The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
"EF-hand domain containing|S100 fused type protein family"
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143520
Associated Conditions (1)
Peeling skin syndrome 6
Key Variants
RS144875878
Conflicting classifications of pathogenicity
Health Risk
RS376664046
Conflicting classifications of pathogenicity
Health Risk
RS556285121
Conflicting classifications of pathogenicity
Peeling skin syndrome 6, Peeling skin syndrome 6
Health Risk
RS755839824
Conflicting classifications of pathogenicity
Health Risk
RS762900875
Conflicting classifications of pathogenicity
Health Risk
RS1201147185
Likely pathogenic
Health Risk
RS1570940216
Likely pathogenic
Health Risk
RS1553219199
Pathogenic
Peeling skin syndrome 6, Peeling skin syndrome 6
Health Risk
RS1050823116
Pathogenic/Likely pathogenic
Peeling skin syndrome 6, Peeling skin syndrome 6
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144875878 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376664046 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS556285121 | Health Risk | Conflicting classifications of pathogenicity | Peeling skin syndrome 6, Peeling skin syndrome 6 |
| RS755839824 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762900875 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1201147185 | Health Risk | Likely pathogenic | — |
| RS1570940216 | Health Risk | Likely pathogenic | — |
| RS1553219199 | Health Risk | Pathogenic | Peeling skin syndrome 6, Peeling skin syndrome 6 |
| RS1050823116 | Health Risk | Pathogenic/Likely pathogenic | Peeling skin syndrome 6, Peeling skin syndrome 6 |