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Gene

USH2A

usherin

Summary

Cytogenetic location
1q41
Coordinates
Chromosome 1: 215,622,891–216,423,448 (GRCh38)
Exons
72 exons across 800.6 kb
Protein
5,202 amino acids
Inheritance
Autosomal recessive
Also known as
USHRN, RP39
Previous symbols
USH2
MANE Select transcript
ENST00000307340.8NM_206933.4
Locus type
gene with protein product

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
      • 5 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

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 2 GenCC submitters rate it definitive or strong

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 USH2A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 1, with a bracket where USH2A sits. USH2A and 3 genes near it on chromosome 1, from 214,822,333 to 217,224,006.Chromosome 11q41p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44215 Mb215.5 Mb216 Mb216.5 Mb217 MbKCNK2: 215,005,775–215,237,329, forward strandKCNK2KCTD3: 215,567,022–215,623,007, forward strandKCTD3USH2A: 215,622,891–216,423,448, reverse strandUSH2AESRRG: 216,503,246–217,137,755, reverse strandESRRGDiagram of USH2A: 72 exons on the reverse strand of chromosome 1Exon 71: 13 known disease-causing sitesExon 70: 19 known disease-causing sitesExon 69: 9 known disease-causing sitesExon 68: 14 known disease-causing sitesExon 67: 12 known disease-causing sitesExon 66: 14 known disease-causing sitesExon 65: 18 known disease-causing sitesExon 64: 21 known disease-causing sitesExon 63: 122 known disease-causing sitesExon 62: 17 known disease-causing sitesExon 61: 21 known disease-causing sitesExon 60: 12 known disease-causing sitesExon 59: 10 known disease-causing sitesExon 58: 6 known disease-causing sitesExon 57: 16 known disease-causing sitesExon 56: 9 known disease-causing sitesExon 55: 7 known disease-causing sitesExon 54: 14 known disease-causing sitesExon 53: 13 known disease-causing sitesExon 52: 9 known disease-causing sitesExon 51: 8 known disease-causing sitesExon 50: 20 known disease-causing sitesExon 49: 10 known disease-causing sitesExon 48: 19 known disease-causing sitesExon 47: 9 known disease-causing sitesExon 46: 9 known disease-causing sitesExon 45: 10 known disease-causing sitesExon 44: 7 known disease-causing sitesExon 43: 10 known disease-causing sitesExon 42: 19 known disease-causing sitesExon 41: 33 known disease-causing sitesExon 40: 10 known disease-causing sitesExon 39: 6 known disease-causing sitesExon 38: 9 known disease-causing sitesExon 37: 15 known disease-causing sitesExon 36: 16 known disease-causing sitesExon 35: 4 known disease-causing sitesExon 34: 10 known disease-causing sitesExon 33: 7 known disease-causing sitesExon 32: 10 known disease-causing sitesExon 31: 7 known disease-causing sitesExon 30: 10 known disease-causing sitesExon 29: 6 known disease-causing sitesExon 28: 14 known disease-causing sitesExon 27: 19 known disease-causing sitesExon 26: 7 known disease-causing sitesExon 25: 17 known disease-causing sitesExon 24: 8 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 22: 7 known disease-causing sitesExon 21: 14 known disease-causing sitesExon 20: 10 known disease-causing sitesExon 19: 21 known disease-causing sitesExon 18: 18 known disease-causing sitesExon 17: 44 known disease-causing sitesExon 16: 10 known disease-causing sitesExon 15: 8 known disease-causing sitesExon 14: 9 known disease-causing sitesExon 13: 54 known disease-causing sitesExon 12: 16 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 10: 16 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 8: 24 known disease-causing sitesExon 7: 17 known disease-causing sitesExon 6: 32 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 3: 12 known disease-causing sitesExon 2: 24 known disease-causing sitesExon 72: 215,622,891–215,625,870, 2,980 basesExon 71: 215,628,814–215,629,035, 222 basesExon 70: 215,634,459–215,634,703, 245 basesExon 69: 215,639,155–215,639,238, 84 basesExon 68: 215,640,558–215,640,734, 177 basesExon 67: 215,647,522–215,647,730, 209 basesExon 66: 215,648,528–215,648,766, 239 basesExon 65: 215,650,592–215,650,801, 210 bases. 1 variant with a page in exon 65. List themExon 64: 215,670,972–215,671,293, 322 basesExon 63: 215,674,100–215,675,616, 1,517 bases. 2 variants with a page in exon 63. List themExon 62: 215,680,149–215,680,376, 228 basesExon 61: 215,728,030–215,728,384, 355 bases. 1 variant with a page in exon 61. List themExon 60: 215,741,375–215,741,537, 163 basesExon 59: 215,743,177–215,743,335, 159 basesExon 58: 215,758,595–215,758,752, 158 bases. 1 variant with a page in exon 58. List themExon 57: 215,759,660–215,759,843, 184 basesExon 56: 215,766,681–215,766,788, 108 basesExon 55: 215,779,843–215,780,041, 199 basesExon 54: 215,782,042–215,782,196, 155 basesExon 53: 215,782,738–215,782,935, 198 basesExon 52: 215,786,670–215,786,874, 205 basesExon 51: 215,790,059–215,790,282, 224 basesExon 50: 215,798,907–215,799,125, 219 basesExon 49: 215,813,736–215,813,904, 169 basesExon 48: 215,816,997–215,817,195, 199 basesExon 47: 215,837,991–215,838,103, 113 basesExon 46: 215,844,294–215,844,496, 203 basesExon 45: 215,845,824–215,846,033, 210 basesExon 44: 215,867,007–215,867,170, 164 basesExon 43: 215,877,758–215,877,880, 123 basesExon 42: 215,878,764–215,879,098, 335 basesExon 41: 215,888,426–215,889,054, 629 basesExon 40: 215,900,075–215,900,217, 143 basesExon 39: 215,900,755–215,900,905, 151 basesExon 38: 215,934,616–215,934,795, 180 basesExon 37: 215,965,317–215,965,479, 163 basesExon 36: 215,970,625–215,970,776, 152 basesExon 35: 215,993,020–215,993,167, 148 basesExon 34: 215,998,887–215,999,058, 172 basesExon 33: 216,000,403–216,000,562, 160 basesExon 32: 216,046,431–216,046,592, 162 basesExon 31: 216,048,534–216,048,647, 114 basesExon 30: 216,070,101–216,070,292, 192 basesExon 29: 216,072,889–216,072,969, 81 basesExon 28: 216,073,097–216,073,300, 204 bases. 1 variant with a page in exon 28. List themExon 27: 216,078,089–216,078,362, 274 bases. 1 variant with a page in exon 27. List themExon 26: 216,083,456–216,083,586, 131 basesExon 25: 216,084,698–216,084,877, 180 basesExon 24: 216,086,719–216,086,820, 102 basesExon 23: 216,089,013–216,089,139, 127 basesExon 22: 216,097,083–216,097,213, 131 basesExon 21: 216,175,252–216,175,482, 231 bases. 1 variant with a page in exon 21. List themExon 20: 216,190,223–216,190,367, 145 bases. 1 variant with a page in exon 20. List themExon 19: 216,196,553–216,196,722, 170 basesExon 18: 216,198,315–216,198,584, 270 basesExon 17: 216,199,627–216,200,121, 495 bases. 2 variants with a page in exon 17. List themExon 16: 216,207,273–216,207,431, 159 basesExon 15: 216,217,387–216,217,550, 164 basesExon 14: 216,231,953–216,232,136, 184 basesExon 13: 216,246,585–216,247,226, 642 bases. 1 variant with a page in exon 13. List themExon 12: 216,250,903–216,251,098, 196 bases. 1 variant with a page in exon 12. List themExon 11: 216,289,280–216,289,410, 131 bases. 1 variant with a page in exon 11. List themExon 10: 216,292,175–216,292,370, 196 basesExon 9: 216,321,883–216,321,976, 94 basesExon 8: 216,323,474–216,323,695, 222 basesExon 7: 216,324,168–216,324,352, 185 basesExon 6: 216,325,305–216,325,599, 295 bases. 2 variants with a page in exon 6. List themExon 5: 216,327,591–216,327,654, 64 basesExon 4: 216,364,953–216,365,085, 133 basesExon 3: 216,418,514–216,418,679, 166 basesExon 2: 216,421,852–216,422,540, 689 basesExon 1: 216,423,214–216,423,448, 235 bases7260402015′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 18.9 kb of the gene's 800.6 kb; 15,609 of those bases code for the protein.

How a genome test reads USH2A

1,263

positions in USH2A 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 800.6 kb of USH2A, introns included, not only the 18.9 kb of exons.

Variants with a page (20)

The USH2A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A4740Dc.14219C>AExon 65215,650,716Pathogenic3 stars out of 4 reviewed by expert panel
c.5857+2T>CIntron 29216,072,887Likely pathogenic3 stars out of 4 reviewed by expert panel
c.8559-2A>GIntron 42215,877,882Pathogenic3 stars out of 4 reviewed by expert panel
c.8682-9A>GIntron 43215,867,179Pathogenic3 stars out of 4 reviewed by expert panel
c.12295-3T>AIntron 62215,675,619Pathogenic3 stars out of 4 reviewed by expert panel
C319Yc.956G>AExon 6216,325,492Pathogenic3 stars out of 4 reviewed by expert panel
C620Fc.1859G>TExon 11216,289,392Pathogenic3 stars out of 4 reviewed by expert panel
C694Yc.2081G>AExon 12216,250,989Likely pathogenic3 stars out of 4 reviewed by expert panel
C759Fc.2276G>TExon 13216,247,118Pathogenic3 stars out of 4 reviewed by expert panel
C1447Qfs*29c.4338_4339delExon 20216,190,279Pathogenic3 stars out of 4 reviewed by expert panel

See all 20 USH2A variants →

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.). USH2A gene: usherin. Retrieved 17 October 2026, from https://dantelabs.com/genes/ush2a

Vancouver

Dante Labs. USH2A gene: usherin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ush2a

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