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Gene

COL11A1

collagen type XI alpha 1 chain

Summary

Cytogenetic location
1p21.1
Coordinates
Chromosome 1: 102,876,473–103,108,522 (GRCh38)
Exons
67 exons across 232.1 kb
Protein
1,806 amino acids
Inheritance
Autosomal dominant
Also known as
STL2, CO11A1
Previous symbols
COLL6, DFNA37
MANE Select transcript
ENST00000370096.9NM_001854.4
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

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong
    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

  • Vitreoretinopathy

    • Marshall SyndromeAutosomal dominant

      A dominant condition related to Stickler syndrome, caused by changes in COL11A1, with high short-sightedness, a risk of retinal detachment, hearing loss and distinctive facial features.

      • 3 GenCC submitters rate it definitive or strong
    • Vitreoretinal Degeneration
      • 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 COL11A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where COL11A1 sits. COL11A1 and 0 genes near it on chromosome 1, from 102,492,498 to 103,492,497.Chromosome 11p21.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44102.6 Mb102.8 Mb103 Mb103.2 Mb103.4 MbCOL11A1: 102,876,473–103,108,522, reverse strandCOL11A1Diagram of COL11A1: 67 exons on the reverse strand of chromosome 1Exon 66: 1 known disease-causing siteExon 63: 1 known disease-causing siteExon 61: 1 known disease-causing siteExon 59: 1 known disease-causing siteExon 58: 1 known disease-causing siteExon 57: 1 known disease-causing siteExon 56: 1 known disease-causing siteExon 54: 3 known disease-causing sitesExon 51: 2 known disease-causing sitesExon 48: 1 known disease-causing siteExon 47: 1 known disease-causing siteExon 46: 2 known disease-causing sitesExon 45: 1 known disease-causing siteExon 43: 1 known disease-causing siteExon 41: 1 known disease-causing siteExon 40: 1 known disease-causing siteExon 39: 2 known disease-causing sitesExon 38: 1 known disease-causing siteExon 36: 1 known disease-causing siteExon 34: 1 known disease-causing siteExon 32: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 67: 102,876,473–102,878,165, 1,693 basesExon 66: 102,879,683–102,879,916, 234 basesExon 65: 102,881,697–102,881,765, 69 basesExon 64: 102,883,199–102,883,311, 113 basesExon 63: 102,886,807–102,887,056, 250 basesExon 62: 102,888,577–102,888,630, 54 basesExon 61: 102,888,723–102,888,758, 36 basesExon 60: 102,888,866–102,888,919, 54 basesExon 59: 102,889,455–102,889,562, 108 basesExon 58: 102,890,451–102,890,504, 54 basesExon 57: 102,898,125–102,898,178, 54 basesExon 56: 102,898,666–102,898,773, 108 basesExon 55: 102,898,941–102,898,994, 54 basesExon 54: 102,912,159–102,912,212, 54 basesExon 53: 102,913,637–102,913,690, 54 basesExon 52: 102,914,352–102,914,405, 54 basesExon 51: 102,914,704–102,914,811, 108 basesExon 50: 102,915,631–102,915,684, 54 basesExon 49: 102,920,311–102,920,364, 54 basesExon 48: 102,921,518–102,921,571, 54 basesExon 47: 102,923,336–102,923,389, 54 basesExon 46: 102,934,449–102,934,556, 108 basesExon 45: 102,935,060–102,935,113, 54 basesExon 44: 102,939,035–102,939,088, 54 basesExon 43: 102,940,327–102,940,434, 108 basesExon 42: 102,946,849–102,946,956, 108 basesExon 41: 102,961,866–102,961,919, 54 basesExon 40: 102,962,176–102,962,265, 90 basesExon 39: 102,962,653–102,962,760, 108 basesExon 38: 102,965,487–102,965,540, 54 basesExon 37: 102,970,219–102,970,272, 54 basesExon 36: 102,974,830–102,974,883, 54 basesExon 35: 102,978,708–102,978,752, 45 basesExon 34: 102,978,860–102,978,913, 54 basesExon 33: 102,979,060–102,979,104, 45 basesExon 32: 102,979,382–102,979,435, 54 basesExon 31: 102,984,138–102,984,191, 54 basesExon 30: 102,987,633–102,987,740, 108 basesExon 29: 102,989,518–102,989,571, 54 basesExon 28: 102,995,864–102,995,908, 45 basesExon 27: 102,995,989–102,996,042, 54 basesExon 26: 102,997,080–102,997,124, 45 basesExon 25: 102,998,310–102,998,363, 54 basesExon 24: 103,001,925–103,001,969, 45 basesExon 23: 103,002,428–103,002,481, 54 basesExon 22: 103,002,747–103,002,791, 45 basesExon 21: 103,003,215–103,003,268, 54 basesExon 20: 103,004,444–103,004,488, 45 basesExon 19: 103,004,608–103,004,661, 54 basesExon 18: 103,005,838–103,005,891, 54 basesExon 17: 103,006,068–103,006,121, 54 basesExon 16: 103,006,262–103,006,315, 54 basesExon 15: 103,008,463–103,008,516, 54 basesExon 14: 103,012,413–103,012,469, 57 basesExon 13: 103,014,511–103,014,594, 84 basesExon 12: 103,015,668–103,015,742, 75 basesExon 11: 103,017,820–103,017,882, 63 basesExon 10: 103,018,818–103,018,859, 42 basesExon 9: 103,021,707–103,021,769, 63 basesExon 8: 103,022,742–103,022,996, 255 basesExon 7: 103,025,521–103,025,613, 93 basesExon 6: 103,026,216–103,026,332, 117 basesExon 5: 103,031,116–103,031,244, 129 basesExon 4: 103,074,618–103,074,780, 163 basesExon 3: 103,078,658–103,078,871, 214 basesExon 2: 103,082,805–103,082,972, 168 basesExon 1: 103,108,073–103,108,522, 450 bases6760504030201015′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 7.3 kb of the gene's 232.1 kb; 5,421 of those bases code for the protein.

How a genome test reads COL11A1

72

positions in COL11A1 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 232.1 kb of COL11A1, introns included, not only the 7.3 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.). COL11A1 gene: collagen type XI alpha 1 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col11a1

Vancouver

Dante Labs. COL11A1 gene: collagen type XI alpha 1 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col11a1

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