Gene
KRT2
keratin 2
- HGNC 6439↗(opens in a new tab)
- Ensembl gene ENSG00000172867↗(opens in a new tab)
- NCBI Gene 3849↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q13.13
- Coordinates
- Chromosome 12: 52,644,558–52,652,211 (GRCh38)
- Exons
- 9 exons across 7.7 kb
- Protein
- 639 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- KRTE
- Previous symbols
- KRT2A
- MANE Select transcript
- ENST00000309680.4NM_000423.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Inherited Ichthyoses
- Autosomal recessive congenital ichthyosisAutosomal recessive
A group of recessive ichthyoses, including harlequin ichthyosis and lamellar ichthyosis, usually present at birth, often with a collodion membrane.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Early diagnosis guides neonatal care, emollient and keratolytic regimens, and heat-intolerance precautions.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How KRT2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.5 kb of the gene's 7.7 kb; 1,920 of those bases code for the protein.
How a genome test reads KRT2
4
positions in KRT2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 7.7 kb of KRT2, introns included, not only the 2.5 kb of exons.
Genes linked to the same conditions
- ABCA12ATP binding cassette subfamily A member 12Shares 1 condition
- ALOX12Barachidonate 12-lipoxygenase, 12R typeShares 1 condition
- ALOXE3arachidonate epidermal lipoxygenase 3Shares 1 condition
- CERS3ceramide synthase 3Shares 1 condition
- CSTAcystatin AShares 1 condition
- CYP4F22cytochrome P450 family 4 subfamily F member 22Shares 1 condition
- LIPNlipase family member NShares 1 condition
- NIPAL4NIPA like domain containing 4Shares 1 condition
- PNPLA1patatin like domain 1, omega-hydroxyceramide transacylaseShares 1 condition
- SDR9C7short chain dehydrogenase/reductase family 9C member 7Shares 1 condition
- SERPINB8serpin family B member 8Shares 1 condition
- ST14ST14 transmembrane serine protease matriptaseShares 1 condition
Traits linked to KRT2
The Human Phenotype Ontology lists these as features of the rare conditions KRT2 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.). KRT2 gene: keratin 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/krt2
Dante Labs. KRT2 gene: keratin 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/krt2
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