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Gene

KRT5

keratin 5

Summary

Cytogenetic location
12q13.13
Coordinates
Chromosome 12: 52,514,575–52,520,394 (GRCh38)
Exons
9 exons across 5.8 kb
Protein
590 amino acids
Inheritance
Autosomal dominant
Also known as
KRT5A, CK-5
Previous symbols
EBS2
MANE Select transcript
ENST00000252242.9NM_000424.4
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

  • 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.

      • 1 GenCC submitter rates 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.

Broader groupings

  • Congenital Disorders of Glycosylation

    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

      • 2 GenCC submitters rate it definitive or strong

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 KRT5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where KRT5 sits. KRT5 and 30 genes near it on chromosome 12, from 52,017,485 to 53,017,484.Chromosome 1212q13.13p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3352.2 Mb52.4 Mb52.6 Mb52.8 Mb53 MbNR4A1: 52,022,832–52,059,509, forward strandNR4A1ATG101: 52,069,246–52,077,495, forward strandATG101SMIM41: 52,079,704–52,108,255, forward strandSMIM41KRT80: 52,168,996–52,192,311, reverse strandKRT80KRT7: 52,232,520–52,252,186, forward strandKRT7KRT86: 52,249,300–52,309,163, forward strandKRT86KRT81: 52,285,913–52,291,534, reverse strandKRT81KRT83: 52,314,301–52,321,398, reverse strandKRT83KRT85: 52,360,006–52,367,481, reverse strandKRT85KRT84: 52,377,812–52,385,652, reverse strandKRT84KRT82: 52,393,931–52,406,335, reverse strandKRT82KRT75: 52,424,070–52,434,380, reverse strandKRT75KRT6B: 52,446,651–52,452,154, reverse strandKRT6BKRT6C: 52,468,516–52,473,805, reverse strandKRT6CKRT6A: 52,487,176–52,493,265, reverse strandKRT6AKRT5: 52,514,575–52,520,394, reverse strandKRT5KRT71: 52,543,909–52,553,145, reverse strandKRT71KRT74: 52,565,151–52,573,843, reverse strandKRT74KRT72: 52,585,589–52,601,538, reverse strandKRT72KRT73: 52,607,570–52,618,559, reverse strandKRT73KRT2: 52,644,558–52,652,211, reverse strandKRT2KRT1: 52,674,736–52,680,407, reverse strandKRT1KRT77: 52,689,626–52,703,524, reverse strandKRT77KRT76: 52,768,155–52,777,345, reverse strandKRT76KRT3: 52,789,685–52,796,117, reverse strandKRT3KRT4: 52,806,549–52,814,116, reverse strandKRT4KRT79: 52,821,408–52,834,312, reverse strandKRT79KRT78: 52,837,804–52,849,092, reverse strandKRT78KRT8: 52,897,182–52,949,954, reverse strandKRT8KRT18: 52,945,688–52,952,911, forward strandKRT18EIF4B: 53,006,263–53,042,230, forward strandEIF4BDiagram of KRT5: 9 exons on the reverse strand of chromosome 12Exon 9: 1 known disease-causing siteExon 7: 10 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 1: 6 known disease-causing sitesExon 9: 52,514,575–52,515,240, 666 basesExon 8: 52,515,798–52,515,832, 35 basesExon 7: 52,516,637–52,516,857, 221 basesExon 6: 52,517,107–52,517,232, 126 basesExon 5: 52,517,590–52,517,754, 165 basesExon 4: 52,517,897–52,517,992, 96 basesExon 3: 52,518,103–52,518,163, 61 basesExon 2: 52,518,946–52,519,160, 215 basesExon 1: 52,519,742–52,520,394, 653 bases9876543215′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 2.2 kb of the gene's 5.8 kb; 1,773 of those bases code for the protein.

How a genome test reads KRT5

34

positions in KRT5 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 5.8 kb of KRT5, introns included, not only the 2.2 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.). KRT5 gene: keratin 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/krt5

Vancouver

Dante Labs. KRT5 gene: keratin 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/krt5

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