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Gene

COL11A2

collagen type XI alpha 2 chain

Summary

Cytogenetic location
6p21.32
Coordinates
Chromosome 6: 33,162,694–33,192,467 (GRCh38)
Exons
66 exons across 29.8 kb
Protein
1,736 amino acids
Inheritance
Autosomal dominant
Also known as
HKE5
Previous symbols
DFNA13, DFNB53
MANE Select transcript
ENST00000341947.7NM_080680.3
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 report relevant to this gene

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • 2 GenCC submitters rate 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 definitive
      • 3 GenCC submitters rate 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.

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 COL11A2 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 COL11A2 sits. COL11A2 and 37 genes near it on chromosome 6, from 32,677,581 to 33,677,580.Chromosome 66p21.32p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2732.8 Mb33 Mb33.2 Mb33.4 Mb33.6 MbHLA-DQA2: 32,741,391–32,747,198, forward strandHLA-DQA2HLA-DQB2: 32,756,094–32,763,563, reverse strandHLA-DQB2HLA-DOB: 32,812,763–32,820,466, reverse strand: 32,813,767–32,838,822, reverse strandTAP2: 32,821,833–32,838,802, reverse strandTAP2PSMB8: 32,840,717–32,844,679, reverse strandPSMB8PSMB9: 32,844,136–32,882,881, forward strandPSMB9TAP1: 32,845,204–32,854,026, reverse strandTAP1HLA-DMB: 32,929,338–32,941,490, reverse strandHLA-DMB: 32,937,364–32,953,122, reverse strandHLA-DMA: 32,948,613–32,969,094, reverse strandHLA-DMABRD2: 32,968,564–32,981,505, forward strandBRD2HLA-DOA: 33,004,178–33,009,617, reverse strandHLA-DOAHLA-DPA1: 33,064,569–33,080,781, reverse strandHLA-DPA1HLA-DPB1: 33,073,786–33,091,655, forward strandHLA-DPB1COL11A2: 33,162,694–33,192,467, reverse strandCOL11A2RXRB: 33,193,585–33,200,693, reverse strandRXRBSLC39A7: 33,200,305–33,204,439, forward strandSLC39A7HSD17B8: 33,204,631–33,206,831, forward strandHSD17B8RING1: 33,208,033–33,212,722, forward strandVPS52: 33,250,272–33,272,047, reverse strandVPS52RPS18: 33,271,730–33,276,513, forward strandRPS18B3GALT4: 33,277,123–33,284,832, forward strandB3GALT4WDR46: 33,279,103–33,289,523, reverse strandWDR46PFDN6: 33,288,680–33,298,441, forward strandRGL2: 33,291,180–33,299,534, reverse strandTAPBP: 33,299,694–33,314,284, reverse strandZBTB22: 33,314,406–33,318,021, reverse strandDAXX: 33,318,558–33,323,259, reverse strand: 33,321,386–33,329,286, reverse strandSMIM40: 33,323,628–33,329,279, reverse strandKIFC1: 33,391,429–33,410,441, forward strandKIFC1PHF1: 33,410,360–33,416,453, forward strandPHF1CUTA: 33,416,442–33,418,381, reverse strandCUTASYNGAP1: 33,419,661–33,453,689, forward strandSYNGAP1ZBTB9: 33,453,970–33,457,544, forward strandZBTB9BAK1: 33,568,791–33,580,305, reverse strandBAK1ITPR3: 33,620,331–33,696,575, forward strandITPR3Diagram of COL11A2: 66 exons on the reverse strand of chromosome 6Exon 66: 1 known disease-causing siteExon 64: 1 known disease-causing siteExon 63: 1 known disease-causing siteExon 62: 3 known disease-causing sitesExon 60: 1 known disease-causing siteExon 59: 1 known disease-causing siteExon 57: 3 known disease-causing sitesExon 56: 1 known disease-causing siteExon 55: 2 known disease-causing sitesExon 52: 2 known disease-causing sitesExon 51: 1 known disease-causing siteExon 50: 1 known disease-causing siteExon 46: 1 known disease-causing siteExon 45: 1 known disease-causing siteExon 44: 1 known disease-causing siteExon 42: 3 known disease-causing sitesExon 39: 1 known disease-causing siteExon 38: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 35: 1 known disease-causing siteExon 34: 1 known disease-causing siteExon 32: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 26: 3 known disease-causing sitesExon 25: 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 18: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 66: 33,162,694–33,163,818, 1,125 basesExon 65: 33,164,267–33,164,473, 207 basesExon 64: 33,164,852–33,164,964, 113 basesExon 63: 33,165,549–33,165,816, 268 basesExon 62: 33,165,931–33,165,984, 54 basesExon 61: 33,166,171–33,166,206, 36 basesExon 60: 33,166,513–33,166,566, 54 basesExon 59: 33,166,720–33,166,827, 108 basesExon 58: 33,167,070–33,167,123, 54 basesExon 57: 33,167,264–33,167,317, 54 basesExon 56: 33,167,426–33,167,533, 108 basesExon 55: 33,167,799–33,167,852, 54 basesExon 54: 33,168,519–33,168,572, 54 basesExon 53: 33,168,706–33,168,759, 54 basesExon 52: 33,168,955–33,169,008, 54 basesExon 51: 33,169,383–33,169,490, 108 basesExon 50: 33,169,831–33,169,884, 54 basesExon 49: 33,170,047–33,170,100, 54 basesExon 48: 33,170,326–33,170,379, 54 basesExon 47: 33,170,557–33,170,610, 54 basesExon 46: 33,170,810–33,170,917, 108 basesExon 45: 33,171,114–33,171,167, 54 basesExon 44: 33,171,271–33,171,324, 54 basesExon 43: 33,171,467–33,171,574, 108 basesExon 42: 33,171,713–33,171,820, 108 basesExon 41: 33,172,050–33,172,103, 54 basesExon 40: 33,172,289–33,172,378, 90 basesExon 39: 33,172,530–33,172,637, 108 basesExon 38: 33,173,060–33,173,113, 54 basesExon 37: 33,173,348–33,173,401, 54 basesExon 36: 33,173,502–33,173,555, 54 basesExon 35: 33,173,701–33,173,745, 45 basesExon 34: 33,173,873–33,173,926, 54 basesExon 33: 33,174,011–33,174,055, 45 basesExon 32: 33,174,165–33,174,218, 54 basesExon 31: 33,174,527–33,174,580, 54 basesExon 30: 33,175,574–33,175,681, 108 basesExon 29: 33,176,016–33,176,069, 54 basesExon 28: 33,176,259–33,176,303, 45 basesExon 27: 33,176,433–33,176,486, 54 basesExon 26: 33,176,721–33,176,765, 45 basesExon 25: 33,176,992–33,177,045, 54 basesExon 24: 33,177,181–33,177,225, 45 basesExon 23: 33,177,412–33,177,465, 54 basesExon 22: 33,177,662–33,177,706, 45 basesExon 21: 33,178,132–33,178,185, 54 basesExon 20: 33,178,308–33,178,352, 45 basesExon 19: 33,178,435–33,178,488, 54 basesExon 18: 33,178,679–33,178,732, 54 basesExon 17: 33,178,920–33,178,973, 54 basesExon 16: 33,179,073–33,179,126, 54 basesExon 15: 33,179,231–33,179,284, 54 basesExon 14: 33,179,431–33,179,487, 57 basesExon 13: 33,179,719–33,179,805, 87 basesExon 12: 33,180,258–33,180,332, 75 basesExon 11: 33,180,668–33,180,730, 63 basesExon 10: 33,180,964–33,181,005, 42 basesExon 9: 33,181,111–33,181,170, 60 basesExon 8: 33,184,145–33,184,324, 180 basesExon 7: 33,184,992–33,185,054, 63 basesExon 6: 33,185,701–33,185,778, 78 basesExon 5: 33,186,627–33,186,818, 192 basesExon 4: 33,188,362–33,188,524, 163 basesExon 3: 33,188,978–33,189,188, 211 basesExon 2: 33,189,320–33,189,469, 150 basesExon 1: 33,192,159–33,192,467, 309 bases66656055504540353025201510515′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 6.4 kb of the gene's 29.8 kb; 5,211 of those bases code for the protein.

How a genome test reads COL11A2

62

positions in COL11A2 where ClinVar classes a change as pathogenic or likely pathogenic

62 of them (100%) fall in regions short reads find hard.

  • MHC (62 sites)The major histocompatibility complex (HLA genes), highly polymorphic and poorly represented by a single reference.

A whole genome covers all 29.8 kb of COL11A2, introns included, not only the 6.4 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.). COL11A2 gene: collagen type XI alpha 2 chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/col11a2

Vancouver

Dante Labs. COL11A2 gene: collagen type XI alpha 2 chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/col11a2

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