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Gene

DST

dystonin

Summary

Cytogenetic location
6p12.1
Coordinates
Chromosome 6: 56,457,996–56,954,830 (GRCh38)
Exons
104 exons across 496.8 kb
Protein
7,818 amino acids
Also known as
BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2
Previous symbols
BPAG1
MANE Select transcript
ENST00000680361.1NM_001374736.1
Locus type
Protein-coding

Curated reports relevant to this gene

  • Epidermolysis Bullosa

    • Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With Bp230 DeficiencyAutosomal recessive
      • 3 GenCC submitters rate 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.

      • 3 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 Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)

    • Hereditary Sensory and Autonomic Neuropathy

      A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.

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

      Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).

How DST is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where DST sits. DST and 7 genes near it on chromosome 6, from 55,961,161 to 57,451,665.Chromosome 66p12.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2756 Mb56.2 Mb56.4 Mb56.6 Mb56.8 Mb57 Mb57.2 Mb57.4 MbCOL21A1: 56,056,590–56,394,094, reverse strandCOL21A1DST: 56,457,996–56,954,830, reverse strandDSTBEND6: 56,954,805–57,027,980, forward strandBEND6KIAA1586: 57,046,525–57,086,397, forward strandKIAA1586ZNF451: 57,086,844–57,170,305, forward strandZNF451BAG2: 57,172,272–57,189,833, forward strandBAG2RAB23: 57,186,103–57,222,848, reverse strandRAB23PRIM2: 57,221,513–57,647,924, forward strandPRIM2Diagram of DST: 104 exons on the reverse strand of chromosome 6Exon 104: 1 known disease-causing siteExon 101: 1 known disease-causing siteExon 99: 1 known disease-causing siteExon 98: 1 known disease-causing siteExon 95: 1 known disease-causing siteExon 94: 1 known disease-causing siteExon 93: 1 known disease-causing siteExon 92: 2 known disease-causing sitesExon 90: 2 known disease-causing sitesExon 89: 1 known disease-causing siteExon 84: 2 known disease-causing sitesExon 83: 1 known disease-causing siteExon 81: 2 known disease-causing sitesExon 80: 1 known disease-causing siteExon 79: 3 known disease-causing sitesExon 78: 1 known disease-causing siteExon 76: 1 known disease-causing siteExon 74: 1 known disease-causing siteExon 73: 2 known disease-causing sitesExon 72: 2 known disease-causing sitesExon 70: 1 known disease-causing siteExon 69: 2 known disease-causing sitesExon 68: 2 known disease-causing sitesExon 66: 1 known disease-causing siteExon 65: 1 known disease-causing siteExon 64: 1 known disease-causing siteExon 63: 4 known disease-causing sitesExon 61: 8 known disease-causing sitesExon 60: 3 known disease-causing sitesExon 59: 1 known disease-causing siteExon 57: 2 known disease-causing sitesExon 56: 1 known disease-causing siteExon 53: 1 known disease-causing siteExon 51: 2 known disease-causing sitesExon 48: 3 known disease-causing sitesExon 40: 5 known disease-causing sitesExon 39: 1 known disease-causing siteExon 38: 1 known disease-causing siteExon 36: 2 known disease-causing sitesExon 35: 2 known disease-causing sitesExon 34: 2 known disease-causing sitesExon 30: 5 known disease-causing sitesExon 29: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 27: 3 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 104: 56,457,996–56,459,267, 1,272 basesExon 103: 56,460,131–56,460,254, 124 basesExon 102: 56,463,046–56,463,156, 111 basesExon 101: 56,463,565–56,463,764, 200 basesExon 100: 56,464,685–56,464,756, 72 basesExon 99: 56,466,078–56,466,195, 118 basesExon 98: 56,468,982–56,468,999, 18 basesExon 97: 56,469,883–56,469,957, 75 basesExon 96: 56,470,128–56,470,282, 155 basesExon 95: 56,471,106–56,471,268, 163 basesExon 94: 56,472,059–56,472,222, 164 basesExon 93: 56,473,873–56,474,002, 130 basesExon 92: 56,476,149–56,476,337, 189 basesExon 91: 56,477,345–56,477,488, 144 basesExon 90: 56,482,050–56,482,178, 129 basesExon 89: 56,482,683–56,482,877, 195 basesExon 88: 56,485,312–56,485,471, 160 basesExon 87: 56,487,104–56,487,273, 170 basesExon 86: 56,489,490–56,489,609, 120 basesExon 85: 56,492,227–56,492,433, 207 basesExon 84: 56,492,934–56,493,089, 156 basesExon 83: 56,494,010–56,494,180, 171 basesExon 82: 56,497,379–56,497,507, 129 basesExon 81: 56,497,856–56,498,053, 198 basesExon 80: 56,501,080–56,501,235, 156 basesExon 79: 56,501,520–56,501,693, 174 basesExon 78: 56,503,997–56,504,098, 102 basesExon 77: 56,506,443–56,506,544, 102 basesExon 76: 56,506,667–56,506,789, 123 basesExon 75: 56,508,529–56,508,755, 227 basesExon 74: 56,509,642–56,509,873, 232 basesExon 73: 56,511,197–56,511,400, 204 basesExon 72: 56,515,450–56,515,668, 219 basesExon 71: 56,517,198–56,517,305, 108 basesExon 70: 56,517,501–56,517,620, 120 basesExon 69: 56,526,361–56,526,567, 207 basesExon 68: 56,527,493–56,527,734, 242 basesExon 67: 56,528,841–56,528,925, 85 basesExon 66: 56,529,448–56,529,774, 327 basesExon 65: 56,529,974–56,530,133, 160 basesExon 64: 56,532,344–56,532,510, 167 basesExon 63: 56,535,122–56,535,292, 171 basesExon 62: 56,536,779–56,536,940, 162 basesExon 61: 56,552,184–56,553,655, 1,472 basesExon 60: 56,555,345–56,555,840, 496 basesExon 59: 56,557,319–56,557,518, 200 basesExon 58: 56,560,294–56,560,423, 130 basesExon 57: 56,561,308–56,561,549, 242 basesExon 56: 56,562,138–56,562,200, 63 basesExon 55: 56,568,469–56,568,595, 127 basesExon 54: 56,569,856–56,570,012, 157 basesExon 53: 56,572,100–56,572,266, 167 basesExon 52: 56,572,747–56,573,064, 318 basesExon 51: 56,573,679–56,573,887, 209 basesExon 50: 56,578,814–56,578,937, 124 basesExon 49: 56,592,182–56,592,358, 177 basesExon 48: 56,593,663–56,594,193, 531 basesExon 47: 56,597,740–56,598,006, 267 basesExon 46: 56,598,476–56,598,709, 234 basesExon 45: 56,600,069–56,600,221, 153 basesExon 44: 56,601,443–56,601,676, 234 basesExon 43: 56,602,882–56,603,031, 150 basesExon 42: 56,603,205–56,603,420, 216 basesExon 41: 56,603,564–56,603,713, 150 basesExon 40: 56,603,837–56,609,344, 5,508 basesExon 39: 56,610,427–56,610,562, 136 basesExon 38: 56,611,508–56,611,596, 89 basesExon 37: 56,614,356–56,614,484, 129 basesExon 36: 56,624,530–56,624,628, 99 basesExon 35: 56,625,157–56,625,264, 108 basesExon 34: 56,627,204–56,627,287, 84 basesExon 33: 56,627,999–56,628,161, 163 basesExon 32: 56,629,250–56,629,443, 194 basesExon 31: 56,630,245–56,630,383, 139 basesExon 30: 56,631,211–56,631,389, 179 basesExon 29: 56,631,883–56,632,040, 158 basesExon 28: 56,632,854–56,633,037, 184 basesExon 27: 56,634,132–56,634,258, 127 basesExon 26: 56,634,462–56,634,616, 155 basesExon 25: 56,634,801–56,634,953, 153 basesExon 24: 56,635,589–56,635,714, 126 basesExon 23: 56,636,557–56,636,652, 96 basesExon 22: 56,639,259–56,639,363, 105 basesExon 21: 56,639,450–56,639,611, 162 basesExon 20: 56,639,696–56,639,773, 78 basesExon 19: 56,639,929–56,640,057, 129 basesExon 18: 56,640,143–56,640,605, 463 basesExon 17: 56,641,947–56,642,101, 155 basesExon 16: 56,642,410–56,642,503, 94 basesExon 15: 56,645,866–56,645,993, 128 basesExon 14: 56,646,087–56,646,182, 96 basesExon 13: 56,648,570–56,648,689, 120 basesExon 12: 56,650,926–56,651,032, 107 basesExon 11: 56,651,132–56,651,244, 113 basesExon 10: 56,670,641–56,670,807, 167 basesExon 9: 56,699,653–56,699,745, 93 basesExon 8: 56,701,888–56,701,965, 78 basesExon 7: 56,703,648–56,703,746, 99 basesExon 6: 56,704,280–56,704,369, 90 basesExon 5: 56,735,228–56,735,289, 62 basesExon 4: 56,851,397–56,851,604, 208 basesExon 3: 56,900,421–56,900,621, 201 basesExon 2: 56,953,785–56,953,819, 35 basesExon 1: 56,954,407–56,954,830, 424 bases10415′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 24.7 kb of the gene's 496.8 kb; 23,457 of those bases code for the protein.

Sequencing DST

0Low

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

  • Mappability0%
  • Homology0%
  • Repeats0.8%
  • GC content2.9%
  • Reference coverage0%

164

positions in DST 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 496.8 kb of DST, introns included, not only the 24.7 kb of exons.

Genes linked to the same conditions

Traits linked to DST

The Human Phenotype Ontology lists these as features of the rare conditions DST 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.). DST gene: dystonin. Retrieved 17 October 2026, from https://dantelabs.com/genes/dst

Vancouver

Dante Labs. DST gene: dystonin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dst

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