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Gene

USH1C

USH1 protein network component harmonin

Summary

Cytogenetic location
11p15.1
Coordinates
Chromosome 11: 17,493,900–17,544,416 (GRCh38)
Exons
27 exons across 50.5 kb
Protein
899 amino acids
Inheritance
Autosomal recessive
Also known as
PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C
Previous symbols
DFNB18
MANE Select transcript
ENST00000005226.12NM_153676.4
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

  • Usher Syndrome

    • Autosomal recessive

      A group of recessive conditions (types 1 to 4) causing sensorineural hearing loss, progressive retinitis pigmentosa and, in some types, balance problems, linked to genes such as USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 and ARSG.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      An early diagnosis helps with decisions about the timing of cochlear implants, eye monitoring and eligibility for retinal therapy trials, and is relevant to carrier screening.

Broader groupings

  • Hearing Loss and Deafness

    • 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.

      • 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.

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 USH1C is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 11, with a bracket where USH1C sits. USH1C and 11 genes near it on chromosome 11, from 17,019,158 to 18,019,157.Chromosome 1111p15.1p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2517.2 Mb17.4 Mb17.6 Mb17.8 Mb18 MbRPS13: 17,066,750–17,077,729, reverse strandRPS13PIK3C2A: 17,077,730–17,207,986, reverse strandPIK3C2ANUCB2: 17,208,072–17,349,980, forward strandNUCB2NCR3LG1: 17,351,677–17,377,341, forward strandNCR3LG1KCNJ11: 17,364,082–17,389,364, reverse strandKCNJ11ABCC8: 17,392,498–17,476,894, reverse strandABCC8USH1C: 17,493,900–17,544,416, reverse strandUSH1COTOG: 17,547,259–17,647,150, forward strandOTOGMYOD1: 17,719,565–17,722,136, forward strandMYOD1KCNC1: 17,734,724–17,856,811, forward strandKCNC1SERGEF: 17,788,043–18,013,199, reverse strandSERGEFTPH1: 18,017,555–18,046,269, reverse strandTPH1Diagram of USH1C: 27 exons on the reverse strand of chromosome 11Exon 25: 1 known disease-causing siteExon 24: 5 known disease-causing sitesExon 23: 5 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 16: 1 known disease-causing siteExon 14: 12 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 12: 12 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 5 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 15 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 1: 4 known disease-causing sitesExon 27: 17,493,900–17,494,376, 477 basesExon 26: 17,495,569–17,495,677, 109 basesExon 25: 17,496,758–17,496,813, 56 basesExon 24: 17,498,162–17,498,271, 110 basesExon 23: 17,501,051–17,501,150, 100 basesExon 22: 17,501,482–17,501,535, 54 basesExon 21: 17,501,939–17,501,980, 42 basesExon 20: 17,504,647–17,504,697, 51 basesExon 19: 17,505,830–17,505,949, 120 basesExon 18: 17,509,356–17,509,838, 483 basesExon 17: 17,510,405–17,510,521, 117 basesExon 16: 17,511,902–17,512,054, 153 basesExon 15: 17,516,241–17,516,290, 50 basesExon 14: 17,520,870–17,520,994, 125 basesExon 13: 17,521,346–17,521,411, 66 basesExon 12: 17,522,784–17,522,926, 143 basesExon 11: 17,523,211–17,523,267, 57 basesExon 10: 17,523,419–17,523,478, 60 basesExon 9: 17,524,451–17,524,535, 85 basesExon 8: 17,526,347–17,526,441, 95 basesExon 7: 17,526,753–17,526,810, 58 basesExon 6: 17,527,016–17,527,040, 25 basesExon 5: 17,527,223–17,527,331, 109 basesExon 4: 17,531,154–17,531,292, 139 basesExon 3: 17,531,399–17,531,542, 144 basesExon 2: 17,533,255–17,533,322, 68 basesExon 1: 17,544,272–17,544,416, 145 bases2725201510515′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 3.2 kb of the gene's 50.5 kb; 2,700 of those bases code for the protein.

How a genome test reads USH1C

150

positions in USH1C 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 50.5 kb of USH1C, introns included, not only the 3.2 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.). USH1C gene: USH1 protein network component harmonin. Retrieved 16 October 2026, from https://dantelabs.com/genes/ush1c

Vancouver

Dante Labs. USH1C gene: USH1 protein network component harmonin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ush1c

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