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Gene

COL17A1

collagen type XVII alpha 1 chain

Summary

Cytogenetic location
10q25.1
Coordinates
Chromosome 10: 104,031,286–104,085,880 (GRCh38)
Exons
56 exons across 54.6 kb
Protein
1,497 amino acids
Inheritance
Autosomal recessive
Also known as
BP180
Previous symbols
BPAG2
MANE Select transcript
ENST00000648076.2NM_000494.4
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, Junctional 4, IntermediateAutosomal recessive
      • 2 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.

      • 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 Corneal Dystrophies

    • Corneal Dystrophy

      A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.

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

      Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.

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 COL17A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where COL17A1 sits. COL17A1 and 10 genes near it on chromosome 10, from 103,558,583 to 104,558,582.Chromosome 1010q25.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3103.6 Mb103.8 Mb104 Mb104.2 Mb104.4 MbNEURL1: 103,493,592–103,595,168, forward strandNEURL1SH3PXD2A: 103,594,027–103,855,773, reverse strandSH3PXD2ASTN1: 103,856,791–103,918,762, reverse strandSTN1SLK: 103,966,916–104,029,242, forward strandSLKCOL17A1: 104,031,286–104,085,880, reverse strandCOL17A1SFR1: 104,122,058–104,126,385, forward strandSFR1CFAP43: 104,129,888–104,232,364, reverse strandCFAP43GSTO1: 104,235,356–104,267,604, forward strandGSTO1GSTO2: 104,268,873–104,304,950, forward strandGSTO2ITPRIP: 104,308,501–104,338,812, reverse strandITPRIPCFAP58: 104,353,758–104,455,153, forward strandCFAP58Diagram of COL17A1: 56 exons on the reverse strand of chromosome 10Exon 54: 1 known disease-causing siteExon 52: 6 known disease-causing sitesExon 51: 2 known disease-causing sitesExon 50: 3 known disease-causing sitesExon 47: 1 known disease-causing siteExon 46: 2 known disease-causing sitesExon 39: 1 known disease-causing siteExon 37: 2 known disease-causing sitesExon 35: 2 known disease-causing sitesExon 34: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 23: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 56: 104,031,286–104,032,290, 1,005 basesExon 55: 104,032,674–104,032,754, 81 basesExon 54: 104,032,906–104,032,968, 63 basesExon 53: 104,033,238–104,033,375, 138 basesExon 52: 104,033,945–104,034,334, 390 basesExon 51: 104,034,621–104,034,767, 147 basesExon 50: 104,035,263–104,035,373, 111 basesExon 49: 104,035,474–104,035,563, 90 basesExon 48: 104,036,492–104,036,632, 141 basesExon 47: 104,037,045–104,037,113, 69 basesExon 46: 104,037,636–104,037,773, 138 basesExon 45: 104,038,406–104,038,528, 123 basesExon 44: 104,039,071–104,039,121, 51 basesExon 43: 104,039,445–104,039,519, 75 basesExon 42: 104,039,608–104,039,640, 33 basesExon 41: 104,039,973–104,039,999, 27 basesExon 40: 104,040,351–104,040,410, 60 basesExon 39: 104,041,065–104,041,118, 54 basesExon 38: 104,041,303–104,041,344, 42 basesExon 37: 104,041,485–104,041,538, 54 basesExon 36: 104,042,420–104,042,455, 36 basesExon 35: 104,043,501–104,043,581, 81 basesExon 34: 104,043,825–104,043,860, 36 basesExon 33: 104,045,758–104,045,793, 36 basesExon 32: 104,046,747–104,046,773, 27 basesExon 31: 104,047,739–104,047,810, 72 basesExon 30: 104,048,069–104,048,104, 36 basesExon 29: 104,049,409–104,049,471, 63 basesExon 28: 104,050,089–104,050,124, 36 basesExon 27: 104,050,621–104,050,656, 36 basesExon 26: 104,050,848–104,050,901, 54 basesExon 25: 104,051,481–104,051,516, 36 basesExon 24: 104,052,155–104,052,217, 63 basesExon 23: 104,053,031–104,053,135, 105 basesExon 22: 104,053,920–104,053,982, 63 basesExon 21: 104,054,092–104,054,118, 27 basesExon 20: 104,054,981–104,055,007, 27 basesExon 19: 104,055,372–104,055,401, 30 basesExon 18: 104,055,782–104,056,003, 222 basesExon 17: 104,056,975–104,057,172, 198 basesExon 16: 104,058,146–104,058,190, 45 basesExon 15: 104,059,638–104,059,718, 81 basesExon 14: 104,060,119–104,060,280, 162 basesExon 13: 104,061,405–104,061,473, 69 basesExon 12: 104,062,258–104,062,329, 72 basesExon 11: 104,063,747–104,063,818, 72 basesExon 10: 104,064,438–104,064,596, 159 basesExon 9: 104,070,426–104,070,569, 144 basesExon 8: 104,072,032–104,072,079, 48 basesExon 7: 104,073,210–104,073,245, 36 basesExon 6: 104,074,184–104,074,231, 48 basesExon 5: 104,076,301–104,076,429, 129 basesExon 4: 104,077,422–104,077,526, 105 basesExon 3: 104,078,542–104,078,586, 45 basesExon 2: 104,080,622–104,080,684, 63 basesExon 1: 104,085,723–104,085,880, 158 bases56504030201015′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 5.6 kb of the gene's 54.6 kb; 4,494 of those bases code for the protein.

How a genome test reads COL17A1

53

positions in COL17A1 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 54.6 kb of COL17A1, introns included, not only the 5.6 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.). COL17A1 gene: collagen type XVII alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col17a1

Vancouver

Dante Labs. COL17A1 gene: collagen type XVII alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col17a1

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