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Gene

MUSK

muscle associated receptor tyrosine kinase

Summary

Cytogenetic location
9q31.3
Coordinates
Chromosome 9: 110,668,791–110,806,558 (GRCh38)
Exons
15 exons across 137.8 kb
Protein
869 amino acids
MANE Select transcript
ENST00000374448.9NM_005592.4
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 report relevant to this gene

  • Congenital Myasthenic Syndrome

    • Congenital Myasthenic Syndrome (All Types)

      Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.

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

      Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.

How MUSK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where MUSK sits. MUSK and 4 genes near it on chromosome 9, from 110,237,675 to 111,237,674.Chromosome 99q31.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3110.4 Mb110.6 Mb110.8 Mb111 Mb111.2 MbTXN: 110,243,810–110,256,636, reverse strandTXNTXNDC8: 110,303,476–110,337,891, reverse strandTXNDC8SVEP1: 110,365,248–110,580,170, reverse strandSVEP1MUSK: 110,668,791–110,806,558, forward strandMUSKLPAR1: 110,871,773–111,038,863, reverse strandLPAR1Diagram of MUSK: 15 exons on the forward strand of chromosome 9Exon 1: 3 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 15: 18 known disease-causing sitesExon 1: 110,668,791–110,668,983, 193 basesExon 2: 110,682,674–110,682,800, 127 basesExon 3: 110,687,117–110,687,268, 152 basesExon 4: 110,695,403–110,695,530, 128 basesExon 5: 110,697,325–110,697,466, 142 basesExon 6: 110,734,251–110,734,375, 125 basesExon 7: 110,747,641–110,747,800, 160 basesExon 8: 110,762,202–110,762,208, 7 basesExon 9: 110,767,820–110,768,083, 264 basesExon 10: 110,775,788–110,775,963, 176 basesExon 11: 110,776,632–110,776,655, 24 basesExon 12: 110,784,815–110,785,016, 202 basesExon 13: 110,785,527–110,785,718, 192 basesExon 14: 110,787,690–110,787,838, 149 basesExon 15: 110,800,306–110,806,558, 6,253 bases1510155′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 8.3 kb of the gene's 137.8 kb; 2,610 of those bases code for the protein.

How a genome test reads MUSK

68

positions in MUSK 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 137.8 kb of MUSK, introns included, not only the 8.3 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.). MUSK gene: muscle associated receptor tyrosine kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/musk

Vancouver

Dante Labs. MUSK gene: muscle associated receptor tyrosine kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/musk

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