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Gene

COL18A1

collagen type XVIII alpha 1 chain

Summary

Cytogenetic location
21q22.3
Coordinates
Chromosome 21: 45,405,165–45,513,720 (GRCh38)
Exons
42 exons across 108.6 kb
Protein
1,339 amino acids
Also known as
KS, KNO1
Previous symbols
KNO
MANE Select transcript
ENST00000651438.1NM_001379500.1
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Vitreoretinopathy

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

How COL18A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 21, with a bracket where COL18A1 sits. COL18A1 and 5 genes near it on chromosome 21, from 44,959,443 to 45,959,442.Chromosome 2121q22.3p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.345 Mb45.2 Mb45.4 Mb45.6 Mb45.8 MbSLX9: 44,939,938–44,977,014, forward strandSLX9ADARB1: 45,073,839–45,226,560, forward strandADARB1POFUT2: 45,263,019–45,287,898, reverse strandPOFUT2COL18A1: 45,405,165–45,513,720, forward strandCOL18A1SLC19A1: 45,493,572–45,573,564, reverse strandSLC19A1PCBP3: 45,643,661–45,942,454, forward strandPCBP3Diagram of COL18A1: 42 exons on the forward strand of chromosome 21Exon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 17: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 32: 1 known disease-causing siteExon 34: 1 known disease-causing siteExon 35: 2 known disease-causing sitesExon 36: 5 known disease-causing sitesExon 38: 1 known disease-causing siteExon 39: 2 known disease-causing sitesExon 40: 2 known disease-causing sitesExon 1: 45,405,165–45,405,241, 77 basesExon 2: 45,405,379–45,405,473, 95 basesExon 3: 45,468,242–45,468,786, 545 basesExon 4: 45,473,895–45,473,981, 87 basesExon 5: 45,475,476–45,475,535, 60 basesExon 6: 45,476,351–45,476,480, 130 basesExon 7: 45,477,411–45,477,487, 77 basesExon 8: 45,477,750–45,477,965, 216 basesExon 9: 45,478,327–45,478,353, 27 basesExon 10: 45,479,902–45,479,964, 63 basesExon 11: 45,480,070–45,480,156, 87 basesExon 12: 45,480,467–45,480,520, 54 basesExon 13: 45,480,700–45,480,858, 159 basesExon 14: 45,481,963–45,482,025, 63 basesExon 15: 45,482,795–45,482,821, 27 basesExon 16: 45,486,861–45,486,992, 132 basesExon 17: 45,487,447–45,487,509, 63 basesExon 18: 45,488,418–45,488,444, 27 basesExon 19: 45,489,486–45,489,521, 36 basesExon 20: 45,490,275–45,490,346, 72 basesExon 21: 45,490,836–45,490,871, 36 basesExon 22: 45,491,225–45,491,314, 90 basesExon 23: 45,492,535–45,492,564, 30 basesExon 24: 45,492,687–45,492,713, 27 basesExon 25: 45,493,163–45,493,225, 63 basesExon 26: 45,493,501–45,493,575, 75 basesExon 27: 45,494,545–45,494,571, 27 basesExon 28: 45,494,862–45,494,915, 54 basesExon 29: 45,495,358–45,495,432, 75 basesExon 30: 45,496,500–45,496,568, 69 basesExon 31: 45,497,050–45,497,092, 43 basesExon 32: 45,497,599–45,497,661, 63 basesExon 33: 45,504,011–45,504,054, 44 basesExon 34: 45,504,416–45,504,556, 141 basesExon 35: 45,505,134–45,505,278, 145 basesExon 36: 45,505,358–45,505,431, 74 basesExon 37: 45,505,838–45,505,966, 129 basesExon 38: 45,507,561–45,507,593, 33 basesExon 39: 45,509,356–45,509,601, 246 basesExon 40: 45,510,064–45,510,261, 198 basesExon 41: 45,511,111–45,511,226, 116 basesExon 42: 45,512,188–45,513,720, 1,533 bases1510152025303540425′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 5.4 kb of the gene's 108.6 kb; 4,020 of those bases code for the protein.

Sequencing COL18A1

41

positions in COL18A1 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 108.6 kb of COL18A1, introns included, not only the 5.4 kb of exons.

Genes linked to the same conditions

Traits linked to COL18A1

The Human Phenotype Ontology lists these as features of the rare conditions COL18A1 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 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.). COL18A1 gene: collagen type XVIII alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col18a1

Vancouver

Dante Labs. COL18A1 gene: collagen type XVIII alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col18a1

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