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Gene

PTPRQ

protein tyrosine phosphatase receptor type Q

Summary

Cytogenetic location
12q21.31
Coordinates
Chromosome 12: 80,444,235–80,680,273 (GRCh38)
Exons
45 exons across 236 kb
Protein
2,299 amino acids
Inheritance
Autosomal dominant
Previous symbols
DFNB84
MANE Select transcript
ENST00000644991.3NM_001145026.2
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.

      • 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 definitive
      • 5 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 PTPRQ is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where PTPRQ sits. PTPRQ and 5 genes near it on chromosome 12, from 80,062,254 to 81,062,253.Chromosome 1212q21.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3380.2 Mb80.4 Mb80.6 Mb80.8 Mb81 MbOTOGL: 80,099,537–80,380,880, forward strandOTOGLPTPRQ: 80,444,235–80,680,273, forward strandPTPRQMYF6: 80,707,534–80,709,670, forward strandMYF6MYF5: 80,716,906–80,719,671, forward strandMYF5LIN7A: 80,792,520–80,937,975, reverse strandLIN7AACSS3: 80,936,414–81,261,210, forward strandACSS3Diagram of PTPRQ: 45 exons on the forward strand of chromosome 12Exon 1: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 22: 2 known disease-causing sitesExon 23: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 28: 2 known disease-causing sitesExon 29: 1 known disease-causing siteExon 31: 1 known disease-causing siteExon 33: 1 known disease-causing siteExon 40: 1 known disease-causing siteExon 42: 2 known disease-causing sitesExon 44: 2 known disease-causing sitesExon 1: 80,444,235–80,444,399, 165 basesExon 2: 80,444,741–80,444,849, 109 basesExon 3: 80,445,491–80,445,717, 227 basesExon 4: 80,457,575–80,457,644, 70 basesExon 5: 80,459,284–80,459,483, 200 basesExon 6: 80,460,653–80,460,902, 250 basesExon 7: 80,468,710–80,468,838, 129 basesExon 8: 80,472,105–80,472,251, 147 basesExon 9: 80,484,433–80,484,605, 173 basesExon 10: 80,493,275–80,493,455, 181 basesExon 11: 80,494,933–80,495,094, 162 basesExon 12: 80,495,192–80,495,371, 180 basesExon 13: 80,495,999–80,496,106, 108 basesExon 14: 80,496,250–80,496,531, 282 basesExon 15: 80,506,024–80,506,206, 183 basesExon 16: 80,506,569–80,506,670, 102 basesExon 17: 80,510,323–80,510,443, 121 basesExon 18: 80,534,015–80,534,175, 161 basesExon 19: 80,534,892–80,535,037, 146 basesExon 20: 80,539,776–80,539,944, 169 basesExon 21: 80,541,555–80,541,845, 291 basesExon 22: 80,542,089–80,542,364, 276 basesExon 23: 80,542,730–80,542,881, 152 basesExon 24: 80,546,556–80,546,697, 142 basesExon 25: 80,549,465–80,549,734, 270 basesExon 26: 80,588,129–80,588,452, 324 basesExon 27: 80,605,059–80,605,180, 122 basesExon 28: 80,610,439–80,610,625, 187 basesExon 29: 80,613,592–80,613,836, 245 basesExon 30: 80,616,200–80,616,266, 67 basesExon 31: 80,619,384–80,619,542, 159 basesExon 32: 80,620,154–80,620,376, 223 basesExon 33: 80,622,061–80,622,134, 74 basesExon 34: 80,632,192–80,632,291, 100 basesExon 35: 80,634,945–80,635,073, 129 basesExon 36: 80,648,897–80,648,923, 27 basesExon 37: 80,649,588–80,649,669, 82 basesExon 38: 80,652,744–80,652,834, 91 basesExon 39: 80,657,985–80,658,061, 77 basesExon 40: 80,669,007–80,669,141, 135 basesExon 41: 80,669,339–80,669,464, 126 basesExon 42: 80,670,344–80,670,492, 149 basesExon 43: 80,673,169–80,673,304, 136 basesExon 44: 80,678,602–80,678,725, 124 basesExon 45: 80,678,986–80,680,273, 1,288 bases1510152025303540455′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 8.3 kb of the gene's 236 kb; 6,900 of those bases code for the protein.

How a genome test reads PTPRQ

45

positions in PTPRQ 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 236 kb of PTPRQ, introns included, not only the 8.3 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.). PTPRQ gene: protein tyrosine phosphatase receptor type Q. Retrieved 16 October 2026, from https://dantelabs.com/genes/ptprq

Vancouver

Dante Labs. PTPRQ gene: protein tyrosine phosphatase receptor type Q [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ptprq

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