Gene
MYH3
myosin heavy chain 3
- HGNC 7573↗(opens in a new tab)
- Ensembl gene ENSG00000109063↗(opens in a new tab)
- NCBI Gene 4621↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.1
- Coordinates
- Chromosome 17: 10,628,532–10,657,309 (GRCh38)
- Exons
- 41 exons across 28.8 kb
- Protein
- 1,940 amino acids
- Also known as
- MYHC-EMB, MYHSE1, HEMHC, SMHCE
- MANE Select transcript
- ENST00000583535.6NM_002470.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads MYH3 yet. The test sequences your whole genome, so your data includes it all the same.
How MYH3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 6 kb of the gene's 28.8 kb; 5,823 of those bases code for the protein.
How a genome test reads MYH3
38
positions in MYH3 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (2.6%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 28.8 kb of MYH3, introns included, not only the 6 kb of exons.
Traits linked to MYH3
The Human Phenotype Ontology lists these as features of the rare conditions MYH3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Dental crowding
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Flat face
- Little lower jaw
- Long philtrum
- Narrow mouth
- Pursed lips
Show 36 more traits
- Short neck
- Short nose
- Wide nasal bridge
- Abnormal dentition
- Dimple chin
- Flat nose
- Restricted neck mobility due to contractures
- Underdeveloped tissue around nostril
- Webbed neck
- Abnormality of the eyelid
- Abnormally small head
- Cleft nostril
- Cleft of the mouth
- Corners of eye widely separated
- Eye folds
- Facial asymmetry
- High palate
- Long face
- Long nasal bridge
- Narrow face
- Pointed chin
- Thin dental enamel
- Abnormality of the tongue
- Cleft palate
- Deformity of the skull
- Frontal bossing
- Long, narrow head
- Low hairline at back of neck
- Big lower jaw
- Chin with H-shaped crease
- Expressionless face
- Narrow opening between the eyelids
- Prominent forehead
- Triangular face
- Whistling appearance
- Zygomatic flattening
Abnormality of limbs
- Club feet
- Flexion contracture of finger
- Inward turned thumb
- Overlapping toe
- Rocker bottom foot
- Ulnar deviation of the hand
- Aplasia/Hypoplasia of the radius
- Bilateral single transverse palmar creases
Show 24 more traits
- Finger bends toward pinky
- Finger syndactyly
- Fused finger bones
- Overlapping fingers
- Permanent flexion of the finger
- Wrist flexion contracture
- Abnormal feet structure
- Absent phalangeal crease
- Elbow flexion contracture
- Fused ankle bones
- Fused wrist bones
- Hip contracture
- Inability to straighten knee
- Talipes
- Ulnar deviation of the wrist
- Absent palm lines
- Delayed maturation of wrist bone
- Dropped arches
- Webbed fingers
- Bunion
- Flexion contracture of toe
- Hip dislocation
- Joint contracture of the hand
- Ulnar deviation of the hand or of fingers of the hand
Abnormality of the musculoskeletal system
- Flexed joint that cannot be straightened
- Fused thoracic vertebrae
- Permanent flexion of the finger or toe
- Scoliosis
- Abnormality of the sternum
- Funnel chest
- Joint stiffness
- Limitation of joint mobility
Show 23 more traits
- Abnormality of the hip bone
- Abnormally shaped skeletal
- Arthrogryposis multiplex congenita
- Elbow contracture
- Excessive inward curvature of lower spine
- Fused neck
- Intervertebral space narrowing
- Pigeon chest
- Vertebral fusion
- Vertebral segmentation defect
- Cervical spinal canal stenosis
- Delayed bone maturation
- Displacement of one backbone compared to another
- Hernia
- Joint dislocation
- Muscle degeneration
- Recurrent fractures
- Rib fusion
- Barrel-shaped chest
- Kyphoscoliosis
- Missing part of vertebrae
- Muscle weakness
- Shoulder flexion contracture
Abnormality of the nervous system
- Motor delay
- Abnormal speech pattern
- Abnormality of movement
- Abnormal gait
- Cognitive impairment
- Spina bifida occulta
- Abnormal auditory evoked potentials
- Degeneration of cerebellum
Show 2 more traits
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). MYH3 gene: myosin heavy chain 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/myh3
Dante Labs. MYH3 gene: myosin heavy chain 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/myh3
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