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Gene

DSP

desmoplakin

Summary

Cytogenetic location
6p24.3
Coordinates
Chromosome 6: 7,541,671–7,586,714 (GRCh38)
Exons
24 exons across 45 kb
Protein
2,871 amino acids
Also known as
KPPS2, PPKS2, DPI, DPII, DP
MANE Select transcript
ENST00000379802.8NM_004415.4
Locus type
Protein-coding

Curated reports relevant to this gene

  • Arrhythmogenic Cardiomyopathy

    • Dilated Cardiomyopathy with Woolly Hair, Keratoderma and Tooth AgenesisAutosomal dominant

      A condition caused by changes in DSP that combines dilated cardiomyopathy with woolly hair, thickened skin on the palms and soles, and missing teeth.

      • 2 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      Actionability

      Knowing about it supports regular heart monitoring and arrhythmia assessment.

    • Cardioectodermal Syndromes (Naxos Disease and Carvajal Syndrome)

      A group of conditions caused by changes in JUP or DSP, including Naxos disease and Carvajal syndrome, that combine arrhythmogenic cardiomyopathy with woolly hair and thickened skin on the palms and soles.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Knowing about it supports regular heart monitoring and arrhythmia assessment.

    • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

      Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.

      • 2 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      Actionability

      A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.

  • Epidermolysis Bullosa

    • Inherited epidermolysis bullosa

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

      • 2 GenCC submitters rate it definitive or strong
      Actionability

      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.

      • 2 GenCC submitters rate it definitive or strong
      Actionability

      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.

How DSP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 6, with a bracket where DSP sits. DSP and 10 genes near it on chromosome 6, from 7,064,193 to 8,064,192.Chromosome 66p24.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q277.2 Mb7.4 Mb7.6 Mb7.8 Mb8 MbRREB1: 7,107,418–7,251,982, forward strandRREB1SSR1: 7,268,306–7,347,446, reverse strandSSR1CAGE1: 7,326,656–7,389,742, reverse strandCAGE1RIOK1: 7,389,462–7,418,037, forward strandRIOK1DSP: 7,541,671–7,586,714, forward strandDSPSNRNP48: 7,590,181–7,612,832, forward strandSNRNP48BMP6: 7,726,049–7,881,730, forward strandBMP6TXNDC5: 7,881,440–7,911,011, reverse strandTXNDC5BLOC1S5-TXNDC5: 7,881,522–8,064,364, reverse strandBLOC1S5-TXNDC5BLOC1S5: 8,012,317–8,064,419, reverse strandBLOC1S5EEF1E1-BLOC1S5: 8,015,726–8,102,530, reverse strandEEF1E1-BLOC1S5Diagram of DSP: 24 exons on the forward strand of chromosome 6Exon 1: 8 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 3: 12 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 22 known disease-causing sitesExon 8: 9 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 11: 15 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 14: 19 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 16: 17 known disease-causing sitesExon 17: 6 known disease-causing sitesExon 18: 11 known disease-causing sitesExon 19: 12 known disease-causing sitesExon 20: 7 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 23: 187 known disease-causing sitesExon 24: 180 known disease-causing sitesExon 1: 7,541,671–7,542,085, 415 basesExon 2: 7,555,718–7,555,820, 103 bases. 2 variants with a page in exon 2. List themExon 3: 7,558,116–7,558,264, 149 bases. 1 variant with a page in exon 3. List themExon 4: 7,559,226–7,559,400, 175 bases. 2 variants with a page in exon 4. List themExon 5: 7,562,652–7,562,780, 129 bases. 1 variant with a page in exon 5. List themExon 6: 7,563,736–7,563,786, 51 basesExon 7: 7,565,359–7,565,520, 162 bases. 1 variant with a page in exon 7. List themExon 8: 7,566,377–7,566,481, 105 basesExon 9: 7,567,354–7,567,449, 96 bases. 2 variants with a page in exon 9. List themExon 10: 7,567,781–7,567,906, 126 bases. 1 variant with a page in exon 10. List themExon 11: 7,568,437–7,568,589, 153 bases. 1 variant with a page in exon 11. List themExon 12: 7,569,186–7,569,340, 155 basesExon 13: 7,570,437–7,570,563, 127 bases. 1 variant with a page in exon 13. List themExon 14: 7,571,383–7,571,584, 202 bases. 1 variant with a page in exon 14. List themExon 15: 7,571,842–7,572,068, 227 bases. 1 variant with a page in exon 15. List themExon 16: 7,574,086–7,574,252, 167 basesExon 17: 7,574,657–7,574,795, 139 basesExon 18: 7,575,295–7,575,488, 194 basesExon 19: 7,576,294–7,576,456, 163 basesExon 20: 7,576,959–7,577,042, 84 basesExon 21: 7,577,779–7,577,886, 108 basesExon 22: 7,578,464–7,578,562, 99 basesExon 23: 7,579,275–7,581,569, 2,295 bases. 29 variants with a page in exon 23. List themExon 24: 7,582,642–7,586,714, 4,073 bases. 27 variants with a page in exon 24. List them1246810121416182022245′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 9.7 kb of the gene's 45 kb; 8,616 of those bases code for the protein.

Sequencing DSP

1Low

How hard DSP is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats1.8%
  • GC content4.3%
  • Reference coverage0%

642

positions in DSP 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 45 kb of DSP, introns included, not only the 9.7 kb of exons.

Variants with a page (78)

The DSP variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
c.170+1G>AIntron 17,542,086Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.273+1G>AIntron 27,555,821Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.939+1G>AIntron 77,565,521Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1574+1G>AIntron 127,569,341Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2130+1G>AIntron 157,572,069Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2298-2A>CIntron 167,574,655Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2436+2T>CIntron 177,574,797Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2437-1G>CIntron 177,575,294Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
C2656Wfs*24c.7968_7972delExon 247,585,228Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
D1248Kfs*7c.3735_3741dupExon 237,579,922Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 78 DSP variants →

Genes linked to the same conditions

Traits linked to DSP

The Human Phenotype Ontology lists these as features of the rare conditions DSP can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). DSP gene: desmoplakin. Retrieved 17 October 2026, from https://dantelabs.com/genes/dsp

Vancouver

Dante Labs. DSP gene: desmoplakin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dsp

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