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Gene

MYO5A

myosin VA

Summary

Cytogenetic location
15q21.2
Coordinates
Chromosome 15: 52,307,283–52,528,880 (GRCh38)
Exons
42 exons across 221.6 kb
Protein
1,880 amino acids
Inheritance
Autosomal recessive
Also known as
MYO5, GS1, MYR12
Previous symbols
MYH12
MANE Select transcript
ENST00000399233.7NM_001382347.1
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

  • Griscelli Syndrome

    • Autosomal recessive

      Partial albinism with silvery hair; type 1 (MYO5A) involves neurological problems, type 2 (RAB27A) causes life-threatening immune overactivation (HLH), and type 3 (MLPH) affects pigmentation only.

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

      Type 2 needs prompt specialist care and usually stem cell transplantation.

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 MYO5A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where MYO5A sits. MYO5A and 10 genes near it on chromosome 15, from 51,918,082 to 52,918,081.Chromosome 1515q21.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.352 Mb52.2 Mb52.4 Mb52.6 Mb52.8 MbTMOD3: 51,829,626–51,947,295, forward strandTMOD3LEO1: 51,937,788–51,971,922, reverse strandLEO1MAPK6: 51,952,106–52,067,375, forward strandMAPK6: 52,045,846–52,045,899, forward strandBCL2L10: 52,109,263–52,112,775, reverse strandBCL2L10GNB5: 52,115,100–52,191,392, reverse strandGNB5MYO5C: 52,192,309–52,295,815, reverse strandMYO5CMYO5A: 52,307,283–52,528,880, reverse strandMYO5AARPP19: 52,547,045–52,569,883, reverse strandARPP19ATOSA: 52,581,317–52,709,824, reverse strandATOSAONECUT1: 52,755,053–52,791,078, reverse strandONECUT1Diagram of MYO5A: 42 exons on the reverse strand of chromosome 15Exon 22: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 42: 52,307,283–52,313,848, 6,566 basesExon 41: 52,314,123–52,314,203, 81 basesExon 40: 52,317,048–52,317,222, 175 basesExon 39: 52,319,060–52,319,342, 283 basesExon 38: 52,321,359–52,321,509, 151 basesExon 37: 52,323,355–52,323,444, 90 basesExon 36: 52,327,852–52,328,006, 155 basesExon 35: 52,330,353–52,330,499, 147 basesExon 34: 52,336,463–52,336,556, 94 basesExon 33: 52,337,810–52,337,884, 75 basesExon 32: 52,340,196–52,340,394, 199 basesExon 31: 52,343,117–52,343,197, 81 basesExon 30: 52,346,361–52,346,461, 101 basesExon 29: 52,348,818–52,348,826, 9 basesExon 28: 52,351,254–52,351,481, 228 basesExon 27: 52,353,605–52,353,658, 54 basesExon 26: 52,353,871–52,354,014, 144 basesExon 25: 52,359,968–52,360,081, 114 basesExon 24: 52,364,554–52,364,702, 149 basesExon 23: 52,367,031–52,367,124, 94 basesExon 22: 52,370,169–52,370,417, 249 basesExon 21: 52,372,124–52,372,363, 240 basesExon 20: 52,375,304–52,375,460, 157 basesExon 19: 52,376,347–52,376,558, 212 basesExon 18: 52,379,625–52,379,733, 109 basesExon 17: 52,379,822–52,379,908, 87 basesExon 16: 52,383,091–52,383,188, 98 basesExon 15: 52,384,161–52,384,322, 162 basesExon 14: 52,387,829–52,387,912, 84 basesExon 13: 52,389,238–52,389,363, 126 basesExon 12: 52,391,930–52,392,070, 141 basesExon 11: 52,396,316–52,396,397, 82 basesExon 10: 52,397,201–52,397,466, 266 basesExon 9: 52,405,287–52,405,393, 107 basesExon 8: 52,407,292–52,407,399, 108 basesExon 7: 52,408,059–52,408,140, 82 basesExon 6: 52,410,333–52,410,476, 144 basesExon 5: 52,416,145–52,416,301, 157 basesExon 4: 52,425,830–52,425,974, 145 basesExon 3: 52,428,398–52,428,569, 172 basesExon 2: 52,433,175–52,433,285, 111 basesExon 1: 52,528,780–52,528,880, 101 bases4240353025201510515′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 12.1 kb of the gene's 221.6 kb; 5,643 of those bases code for the protein.

How a genome test reads MYO5A

4

positions in MYO5A 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 221.6 kb of MYO5A, introns included, not only the 12.1 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.). MYO5A gene: myosin VA. Retrieved 17 October 2026, from https://dantelabs.com/genes/myo5a

Vancouver

Dante Labs. MYO5A gene: myosin VA [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myo5a

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