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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]
FLG (Filaggrin) is a Protein Coding gene. Diseases associated with FLG include Dermatitis, Atopic, 2 and Ichthyosis Vulgaris. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include calcium ion binding and structural molecule activity. An important paralog of this gene is HRNR.
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:0030280 | structural constituent of epidermis | IDA | 7543090 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001533 | cornified envelope | IBA,IDA | 7543090 |
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | NAS | 2740331 |
GO:0036457 | keratohyalin granule | IBA,IDA | 1429717 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratinization |
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2 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | NAS | 2740331 |
GO:0018149 | peptide cross-linking | IDA | 7543090 |
GO:0030216 | keratinocyte differentiation | TAS | 17704059 |
GO:0061436 | establishment of skin barrier | IBA,IEP | 23403047 |
GO:0070268 | cornification | TAS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FLG 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | FLG 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CRNN 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638422 | Likely Pathogenic: Ichthyosis vulgaris | 152,306,000(-) | CT/C | FRAMESHIFT_VARIANT | |
666623 | Benign: not specified | 152,313,454(-) | G/A | MISSENSE_VARIANT | |
666624 | Benign: not specified | 152,313,526(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
678544 | Likely Benign: not provided | 152,311,732(-) | T/C | MISSENSE_VARIANT | |
681084 | Benign: not provided | 152,305,366(-) | T/C | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dermatitis, atopic, 2 |
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ichthyosis vulgaris |
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dermatitis, atopic |
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paroxysmal dystonia |
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isolated cerebellar agenesis |
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