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Gene

MYO5B

myosin VB

Summary

Cytogenetic location
18q21.1
Coordinates
Chromosome 18: 49,822,789–50,195,147 (GRCh38)
Exons
40 exons across 372.4 kb
Protein
1,848 amino acids
Inheritance
Autosomal recessive
Also known as
KIAA1119
MANE Select transcript
ENST00000285039.12NM_001080467.3
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

  • Congenital Diarrhoeas & Enteropathies

    • Congenital diarrhoea

      Inherited conditions, including congenital chloride diarrhoea (SLC26A3), microvillus inclusion disease (MYO5B), tufting enteropathy (EPCAM) and congenital sodium diarrhoea (SPINT2, SLC9A3), that cause chronic diarrhoea from early infancy.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      A specific diagnosis directs treatment such as electrolyte replacement for chloride diarrhoea, or early planning for parenteral nutrition or intestinal transplant in microvillus inclusion disease and tufting enteropathy.

  • Familial Intrahepatic Cholestasis

    • Autosomal recessive

      An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.

      • 1 GenCC submitter rates 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 MYO5B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where MYO5B sits. MYO5B and 12 genes near it on chromosome 18, from 49,450,430 to 50,567,506.Chromosome 1818q21.1p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2349.6 Mb49.8 Mb50 Mb50.2 Mb50.4 MbDYM: 49,036,387–49,461,347, reverse strandDYMC18orf32: 49,477,243–49,487,263, reverse strandC18orf32RPL17-C18orf32: 49,481,681–49,492,479, reverse strandRPL17-C18orf32RPL17: 49,488,346–49,492,564, reverse strandRPL17LIPG: 49,560,699–49,599,185, forward strandLIPGACAA2: 49,781,714–49,813,965, reverse strandACAA2: 49,795,793–49,837,623, reverse strandMYO5B: 49,822,789–50,195,147, reverse strandMYO5BCFAP53: 50,227,193–50,266,541, reverse strandCFAP53MBD1: 50,266,743–50,281,846, reverse strandMBD1CXXC1: 50,282,331–50,287,862, reverse strandCXXC1SKA1: 50,374,996–50,394,176, forward strandSKA1MAPK4: 50,559,451–50,731,830, forward strandMAPK4Diagram of MYO5B: 40 exons on the reverse strand of chromosome 18Exon 37: 1 known disease-causing siteExon 31: 4 known disease-causing sitesExon 30: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 21: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 6: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 40: 49,822,789–49,826,623, 3,835 basesExon 39: 49,835,344–49,835,424, 81 basesExon 38: 49,836,711–49,836,885, 175 basesExon 37: 49,837,517–49,837,802, 286 basesExon 36: 49,839,144–49,839,294, 151 basesExon 35: 49,841,365–49,841,454, 90 basesExon 34: 49,843,241–49,843,392, 152 basesExon 33: 49,847,146–49,847,289, 144 basesExon 32: 49,849,567–49,849,660, 94 basesExon 31: 49,853,449–49,853,647, 199 basesExon 30: 49,856,813–49,856,890, 78 basesExon 29: 49,863,227–49,863,327, 101 basesExon 28: 49,864,141–49,864,380, 240 basesExon 27: 49,872,167–49,872,232, 66 basesExon 26: 49,875,687–49,875,827, 141 basesExon 25: 49,877,763–49,877,882, 120 basesExon 24: 49,878,945–49,879,090, 146 basesExon 23: 49,880,371–49,880,455, 85 basesExon 22: 49,894,941–49,895,174, 234 basesExon 21: 49,902,594–49,902,833, 240 basesExon 20: 49,904,672–49,904,828, 157 basesExon 19: 49,906,419–49,906,630, 212 basesExon 18: 49,912,062–49,912,173, 112 basesExon 17: 49,929,512–49,929,598, 87 basesExon 16: 49,936,252–49,936,349, 98 basesExon 15: 49,937,245–49,937,397, 153 basesExon 14: 49,953,260–49,953,343, 84 basesExon 13: 49,954,313–49,954,435, 123 basesExon 12: 49,962,266–49,962,406, 141 basesExon 11: 49,962,949–49,963,030, 82 basesExon 10: 49,974,350–49,974,615, 266 basesExon 9: 49,980,444–49,980,553, 110 basesExon 8: 49,984,718–49,984,825, 108 basesExon 7: 49,990,439–49,990,520, 82 basesExon 6: 49,992,288–49,992,431, 144 basesExon 5: 50,001,255–50,001,411, 157 basesExon 4: 50,036,850–50,036,994, 145 basesExon 3: 50,040,143–50,040,314, 172 basesExon 2: 50,055,268–50,055,378, 111 basesExon 1: 50,194,767–50,195,147, 381 bases40353025201510515′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 9.6 kb of the gene's 372.4 kb; 5,547 of those bases code for the protein.

How a genome test reads MYO5B

48

positions in MYO5B 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 372.4 kb of MYO5B, introns included, not only the 9.6 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.). MYO5B gene: myosin VB. Retrieved 17 October 2026, from https://dantelabs.com/genes/myo5b

Vancouver

Dante Labs. MYO5B gene: myosin VB [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myo5b

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