Gene
FLG
filaggrin
- HGNC 3748↗(opens in a new tab)
- Ensembl gene ENSG00000143631↗(opens in a new tab)
- NCBI Gene 2312↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q21.3
- Coordinates
- Chromosome 1: 152,302,165–152,325,239 (GRCh38)
- Exons
- 3 exons across 23.1 kb
- Protein
- 4,061 amino acids
- Also known as
- FLG1, FLG-1
- MANE Select transcript
- ENST00000368799.2NM_002016.2
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Ichthyosis Vulgaris
- Ichthyosis vulgaris (filaggrin deficiency)
Dry, fine scaling, especially on the shins, with increased palm creases; one FLG variant gives a milder effect and two give a stronger one.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Regular emollients and skin-barrier care help, and carriers may benefit from extra attention to eczema and skin irritants.
How FLG is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 12.8 kb of the gene's 23.1 kb; 12,186 of those bases code for the protein.
How a genome test reads FLG
120
positions in FLG where ClinVar classes a change as pathogenic or likely pathogenic
110 of them (92%) fall in regions short reads find hard.
- Low mappability (48 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (110 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 23.1 kb of FLG, introns included, not only the 12.8 kb of exons.
Traits linked to FLG
The Human Phenotype Ontology lists these as features of the rare conditions FLG can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FLG gene: filaggrin. Retrieved 16 October 2026, from https://dantelabs.com/genes/flg
Dante Labs. FLG gene: filaggrin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/flg
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