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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYH13
myosin heavy chain 13
Chromosome 17 · 17p13.1
NCBI Gene: 8735Ensembl: ENSG00000006788.14HGNC: HGNC:7571UniProt: Q9UKX3
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomemicrofilament motor activityactin filament bindingmuscle contractionovarian dysfunctioncoronary artery diseasejoint diseasepoisoning
✦AI Summary

MYH13 encodes a superfast myosin heavy chain specialized for high-velocity, low-tension muscle contractions 1. Expressed primarily in extraocular, laryngeal, and syringeal muscles, MYH13 mediates rapid movements against minimal load through a unique biochemical property: its actin-bound form has much weaker ADP affinity than conventional fast myosins (MYH1, MYH2), enabling rapid myosin-actin detachment and fast shortening velocity 12. Located at the 3' end of the mammalian fast/developmental myosin gene cluster on chromosome 17, MYH13 is evolutionarily ancient but exhibits regulatory independence from adjacent genes, controlled by a super-enhancer 12. Beyond muscle physiology, MYH13 variants associate with neurological and psychiatric conditions: genome-wide association studies identify MYH13 polymorphisms as risk factors for formal thought disorder in schizophrenia 3 and idiopathic normal pressure hydrocephalus (iNPH), where mutations impair ependymal and choroid plexus function 45. MYH13 is also upregulated during C2C12 myoblast differentiation 6 and overexpressed in ovarian cancer bowel metastases 7. These findings suggest MYH13 has pleiotropic roles extending beyond specialized muscle physiology to developmental and neurological processes.

Sources cited
1
MYH13 is a superfast sarcomeric myosin expressed in extraocular, laryngeal, and syringeal muscles; weak ADP affinity mediates fast detachment from actin and high shortening velocity; regulated by super-enhancer; arose early in vertebrate evolution
PMID: 38160435
2
MYH13 encodes extraocular myosin mediating high-velocity, low-tension contractions; located on chromosome 17 in fast/developmental MYH cluster; evolutionarily diverged first among cluster members; regulated by hierarchical network distinct from myogenic factors
PMID: 12110653
3
MYH13 variants (rs2277644) associated with formal thought disorder in schizophrenia via genome-wide association meta-analysis
PMID: 22648509
4
MYH13 mutations enriched in idiopathic normal pressure hydrocephalus patients; protein expressed in choroid plexus and ependymal cells; associated with cilia dysfunction
PMID: 38100419
5
MYH13 identified as risk variant in normal pressure hydrocephalus cohorts; associated with blood-brain barrier and ependymal function
PMID: 40266017
6
MYH13 (Myh13) upregulated during C2C12 myoblast differentiation into myotubes
PMID: 39289290
7
MYH13 overexpressed in ovarian cancer bowel metastases compared to primary tumors
PMID: 31204077
Disease Associationsⓘ20
ovarian dysfunctionOpen Targets
0.34Weak
coronary artery diseaseOpen Targets
0.32Weak
joint diseaseOpen Targets
0.24Weak
poisoningOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.24Weak
ThromboembolismOpen Targets
0.05Suggestive
respiratory tract infectious disorderOpen Targets
0.04Suggestive
gastric carcinomaOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
open-angle glaucomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Miyoshi myopathyOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
DystoniaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
ophthalmoplegiaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
acute myocardial infarctionOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
periodontitisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CKMT2Shared pathway100%GAMTShared pathway100%MYL12BProtein interaction100%MYL9Protein interaction99%MYL12AProtein interaction99%MYH14Protein interaction93%
Tissue Expression6 tissues
Heart
100%
Lung
83%
Brain
67%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
MYH13CKMT2GAMTMYL12BMYL9MYL12AMYH14
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UKX3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.67–0.86]
RankingsWhere MYH13 stands among ~20K protein-coding genes
  • #10,822of 20,598
    Most Researched36
  • #7,519of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedMYH13
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MYH13, a superfast myosin expressed in extraocular, laryngeal and syringeal muscles.
PMID: 38160435
J Physiol · 2024
1.00
2
Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.
PMID: 40266017
Mov Disord · 2025
0.90
3
The human extraocular muscle myosin heavy chain gene (MYH13) maps to the cluster of fast and developmental myosin genes on chromosome 17.
PMID: 9806854
Genomics · 1998
0.80
4
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
PMID: 22648509
J Mol Neurosci · 2012
0.70
5
Transcriptome Analysis of Differentially Expressed Genes and Molecular Pathways Involved in C2C12 Cells Myogenic Differentiation.
PMID: 39289290
Mol Biotechnol · 2025
0.60