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Gene

MYH9

myosin heavy chain 9

Summary

Cytogenetic location
22q12.3
Coordinates
Chromosome 22: 36,281,280–36,387,967 (GRCh38)
Exons
41 exons across 106.7 kb
Protein
1,960 amino acids
Also known as
NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS
Previous symbols
DFNA17
MANE Select transcript
ENST00000216181.11NM_002473.6
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports 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.

      • 2 GenCC submitters rate it definitive or strong
      Actionability

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

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      Actionability

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

How MYH9 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where MYH9 sits. MYH9 and 11 genes near it on chromosome 22, from 35,834,624 to 36,834,623.Chromosome 2222q12.3p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3336 Mb36.2 Mb36.4 Mb36.6 Mb36.8 MbRBFOX2: 35,738,736–36,028,824, reverse strandRBFOX2APOL3: 36,139,792–36,166,177, reverse strandAPOL3APOL4: 36,189,124–36,204,840, reverse strandAPOL4APOL2: 36,220,307–36,239,954, reverse strandAPOL2APOL1: 36,253,071–36,267,530, forward strandAPOL1MYH9: 36,281,280–36,387,967, reverse strandMYH9TXN2: 36,466,895–36,482,072, reverse strandTXN2FOXRED2: 36,487,190–36,507,221, reverse strandFOXRED2EIF3D: 36,510,847–36,529,245, reverse strandEIF3DCACNG2: 36,560,857–36,703,779, reverse strandCACNG2IFT27: 36,741,346–36,776,309, reverse strandIFT27PVALB: 36,800,682–36,819,479, reverse strandPVALBDiagram of MYH9: 41 exons on the reverse strand of chromosome 22Exon 41: 2 known disease-causing sitesExon 39: 2 known disease-causing sitesExon 33: 1 known disease-causing siteExon 32: 2 known disease-causing sitesExon 31: 5 known disease-causing sitesExon 27: 3 known disease-causing sitesExon 26: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 17: 5 known disease-causing sitesExon 12: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 10 known disease-causing sitesExon 41: 36,281,280–36,282,785, 1,506 basesExon 40: 36,284,093–36,284,265, 173 basesExon 39: 36,284,403–36,284,511, 109 basesExon 38: 36,285,121–36,285,329, 209 basesExon 37: 36,285,658–36,285,781, 124 basesExon 36: 36,285,865–36,285,953, 89 basesExon 35: 36,286,718–36,286,846, 129 basesExon 34: 36,288,252–36,288,413, 162 basesExon 33: 36,288,727–36,288,939, 213 basesExon 32: 36,289,085–36,289,297, 213 basesExon 31: 36,291,986–36,292,234, 249 basesExon 30: 36,293,329–36,293,481, 153 basesExon 29: 36,293,759–36,293,863, 105 basesExon 28: 36,294,092–36,294,298, 207 basesExon 27: 36,294,932–36,295,076, 145 basesExon 26: 36,295,505–36,295,717, 213 basesExon 25: 36,296,843–36,297,014, 172 basesExon 24: 36,298,919–36,299,042, 124 basesExon 23: 36,300,127–36,300,264, 138 basesExon 22: 36,300,851–36,301,057, 207 basesExon 21: 36,301,534–36,301,665, 132 basesExon 20: 36,302,568–36,302,676, 109 basesExon 19: 36,303,995–36,304,155, 161 basesExon 18: 36,305,033–36,305,102, 70 basesExon 17: 36,305,930–36,306,051, 122 basesExon 16: 36,306,414–36,306,607, 194 basesExon 15: 36,309,282–36,309,396, 115 basesExon 14: 36,312,049–36,312,222, 174 basesExon 13: 36,314,145–36,314,318, 174 basesExon 12: 36,316,517–36,316,669, 153 basesExon 11: 36,318,207–36,318,325, 119 basesExon 10: 36,319,540–36,319,635, 96 basesExon 9: 36,320,220–36,320,363, 144 basesExon 8: 36,320,798–36,320,896, 99 basesExon 7: 36,321,758–36,321,821, 64 basesExon 6: 36,322,429–36,322,521, 93 basesExon 5: 36,326,568–36,326,661, 94 basesExon 4: 36,327,461–36,327,488, 28 basesExon 3: 36,341,370–36,341,526, 157 basesExon 2: 36,348,904–36,349,255, 352 basesExon 1: 36,387,807–36,387,967, 161 bases412515′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 7.5 kb of the gene's 106.7 kb; 5,883 of those bases code for the protein.

Sequencing MYH9

40

positions in MYH9 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 106.7 kb of MYH9, introns included, not only the 7.5 kb of exons.

Genes linked to the same conditions

Traits linked to MYH9

The Human Phenotype Ontology lists these as features of the rare conditions MYH9 can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). MYH9 gene: myosin heavy chain 9. Retrieved 17 October 2026, from https://dantelabs.com/genes/myh9

Vancouver

Dante Labs. MYH9 gene: myosin heavy chain 9 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myh9

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