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Gene

KRT14

keratin 14

Summary

Cytogenetic location
17q21.2
Coordinates
Chromosome 17: 41,582,279–41,586,895 (GRCh38)
Exons
8 exons across 4.6 kb
Protein
472 amino acids
Inheritance
Autosomal dominant
Previous symbols
EBS3, EBS4
MANE Select transcript
ENST00000167586.7NM_000526.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Ectodermal Dysplasias

    • Naegeli-Franceschetti-Jadassohn syndromeAutosomal dominant

      A KRT14 disorder with net-like skin pigmentation, reduced sweating, absent fingerprints and thickened palms and soles.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Heat precautions help because sweating is reduced.

    • Dermatopathia pigmentosa reticularisAutosomal dominant

      A KRT14 disorder with net-like pigmentation, hair thinning, absent fingerprints and nail changes.

      • 2 GenCC submitters rate it definitive or strong

  • Epidermolysis Bullosa

    • Epidermolysis Bullosa Simplex 1b, Generalized IntermediateAutosomal dominant

      Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.

      • 2 GenCC submitters rate it definitive or strong
    • Epidermolysis Bullosa Simplex 1a, Generalized SevereAutosomal dominant

      A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.

      • 2 GenCC submitters rate it definitive or strong
    • Epidermolysis Bullosa Simplex 1c, LocalizedAutosomal dominant

      A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.

      • 1 GenCC submitter rates it definitive or strong
    • Inherited epidermolysis bullosa

      All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How KRT14 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where KRT14 sits. KRT14 and 54 genes near it on chromosome 17, from 41,084,587 to 42,084,586.Chromosome 1717q21.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.341.2 Mb41.4 Mb41.6 Mb41.8 Mb42 MbKRTAP4-7: 41,084,150–41,085,144, forward strandKRTAP4-8: 41,096,981–41,098,142, reverse strandKRTAP4-8KRTAP4-16: 41,101,502–41,102,209, reverse strandKRTAP4-9: 41,105,389–41,106,488, forward strandKRTAP4-9KRTAP4-11: 41,117,181–41,118,373, reverse strandKRTAP4-12: 41,123,091–41,124,182, reverse strandKRTAP4-6: 41,139,433–41,140,544, reverse strandKRTAP4-5: 41,148,924–41,149,825, reverse strandKRTAP4-5KRTAP4-4: 41,159,649–41,160,748, reverse strandKRTAP4-3: 41,167,231–41,168,221, reverse strandKRTAP4-2: 41,177,446–41,178,221, reverse strandKRTAP4-2KRTAP4-1: 41,184,100–41,184,911, reverse strandKRTAP9-1: 41,189,887–41,190,639, forward strandKRTAP9-1KRTAP9-2: 41,226,648–41,227,652, forward strandKRTAP9-3: 41,232,449–41,233,454, forward strandKRTAP9-3KRTAP9-8: 41,237,999–41,239,004, forward strandKRTAP9-4: 41,249,687–41,250,653, forward strandKRTAP9-9: 41,255,384–41,256,364, forward strandKRTAP9-9KRTAP9-6: 41,265,378–41,265,860, forward strandKRTAP9-7: 41,275,698–41,276,207, forward strandKRTAP9-7KRTAP29-1: 41,301,826–41,302,851, reverse strandKRTAP16-1: 41,307,700–41,309,309, reverse strandKRTAP16-1KRTAP17-1: 41,314,912–41,315,710, reverse strandKRTAP17-1KRT33A: 41,345,665–41,350,828, reverse strandKRT33AKRT33B: 41,363,498–41,369,813, reverse strandKRT33BKRT34: 41,377,669–41,382,306, reverse strandKRT34KRT31: 41,393,721–41,397,611, reverse strandKRT31KRT37: 41,420,547–41,424,585, reverse strandKRT37KRT38: 41,436,154–41,440,983, reverse strandKRT38KRT32: 41,459,513–41,467,386, reverse strandKRT32KRT35: 41,476,710–41,481,151, reverse strandKRT36: 41,486,136–41,492,546, reverse strandKRT36KRT13: 41,500,981–41,505,758, reverse strandKRT13KRT15: 41,513,745–41,522,529, reverse strandKRT15KRT19: 41,523,613–41,528,370, reverse strandKRT19KRT9: 41,565,836–41,572,059, reverse strandKRT9KRT14: 41,582,279–41,586,895, reverse strandKRT14KRT16: 41,609,778–41,615,899, reverse strandKRT16KRT17: 41,619,437–41,624,842, reverse strandKRT17EIF1: 41,688,883–41,693,623, forward strandEIF1GAST: 41,710,999–41,715,973, forward strandGASTHAP1: 41,717,742–41,734,646, reverse strandHAP1JUP: 41,750,887–41,797,798, reverse strandJUPP3H4: 41,801,944–41,812,750, reverse strandP3H4FKBP10: 41,812,079–41,823,221, forward strandFKBP10NT5C3B: 41,823,972–41,836,271, reverse strandNT5C3BKLHL10: 41,835,685–41,848,384, forward strandKLHL10KLHL11: 41,848,513–41,865,430, reverse strandACLY: 41,866,916–41,930,551, reverse strandACLYODAD4: 41,930,599–41,966,503, forward strandODAD4CNP: 41,966,729–41,977,740, forward strandCNPDNAJC7: 41,974,005–42,021,376, reverse strandDNAJC7NKIRAS2: 42,011,382–42,025,644, forward strandNKIRAS2ZNF385C: 42,025,576–42,098,479, reverse strandZNF385CC17orf113: 42,038,232–42,050,601, reverse strandC17orf113Diagram of KRT14: 8 exons on the reverse strand of chromosome 17Exon 6: 10 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 1: 13 known disease-causing sitesExon 8: 41,582,279–41,582,532, 254 basesExon 7: 41,583,094–41,583,140, 47 basesExon 6: 41,583,235–41,583,455, 221 basesExon 5: 41,583,551–41,583,676, 126 basesExon 4: 41,583,760–41,583,921, 162 basesExon 3: 41,584,257–41,584,413, 157 basesExon 2: 41,584,975–41,585,057, 83 basesExon 1: 41,586,310–41,586,895, 586 bases876543215′3′

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 1.6 kb of the gene's 4.6 kb; 1,419 of those bases code for the protein.

How a genome test reads KRT14

34

positions in KRT14 where ClinVar classes a change as pathogenic or likely pathogenic

34 of them (100%) fall in regions short reads find hard.

  • Low mappability (16 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (34 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 4.6 kb of KRT14, introns included, not only the 1.6 kb of exons.

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

APA

Dante Labs. (n.d.). KRT14 gene: keratin 14. Retrieved 16 October 2026, from https://dantelabs.com/genes/krt14

Vancouver

Dante Labs. KRT14 gene: keratin 14 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/krt14

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