AlphaFold predicted structure
MYO3A · Q8NEV4
Mean pLDDT
68.4/ 100
Low
1,616 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)27%
- Low(50–70)6%
- Very low(< 50)33%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MYO3A
Chr 10p12.1myosin IIIA
- MANE:
- ENST00000642920.2
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
autosomal recessive nonsyndromic hearing loss 30
0.67nonsyndromic genetic hearing loss
0.49hearing loss, autosomal dominant 90
0.48hearing loss, autosomal recessive
0.47Rare genetic deafness
0.39deafness
0.39Non-syndromic genetic deafness
0.38autosomal dominant nonsyndromic hearing loss
0.36Sensorineural hearing impairment
0.34autosomal dominant nonsyndromic hearing loss 30
0.33
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Myosin-IIIa
Actin-dependent motor protein with a protein kinase activity, playing an essential role in hearing (PubMed:12032315, PubMed:29880844, PubMed:34788109). Probably also plays a role in vision. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (PubMed:29880844, PubMed:34788109)