GeneBe

MYO10

protein-coding

myosin X, the group of Myosin heavy chains, class X|Pleckstrin homology domain containing|FERM domain containing

Gene summary

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011]

MANE transcript

NM_012334.3

Inheritance

AR

ClinVar variants

P:1U:366B:31

Top phenotype

microphthalmia

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr5:16,661,907-16,936,288

External References & Databases

Ensembl (ENSG00000145555)NCBI Gene (4651)OMIM (601481)HGNC:7593GenCCUniProt (Q9HD67)AlphaFoldClinVar (MYO10)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~274.4 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

microphthalmiaDEFINITIVE

Inheritance Pattern: AR

Disease ID:MONDO:0021129

Submitter: LiferaOmics

Genetic evidence – Published PMID: 29450879 – Reports one affected individual. Case-level (biallelic predicted null in AR model; homozygous; consanguinity −0.5 applied) = 1.0; Segregation = 0; Case-control = 0 Family 1 total = 1.0 PMID: 29450879 total = 1.0 PMID: 39504961 – Reports four affected individuals from four unrelated families: Family 1 – one proband. Case-level (biallelic predicted null in AR model; homozygous; consanguinity not reported so no deduction applied) = 1.5; Segregation = 0; Case-control = 0 Family 1 total = 1.5 Family 2 – one proband. Case-level (biallelic predicted null in AR model; homozygous; consanguinity not reported so no deduction applied) = 1.5; Segregation = 0; Case-control = 0 Family 2 total = 1.5 Family 3– one proband. Case-level (biallelic predicted null in AR model; homozygous; consanguinity not reported so no deduction applied) = 1.5; Segregation = 0; Case-control = 0 Family 3 total = 1.5 Family 4 – one proband. Case-level (biallelic predicted null in AR model; homozygous; consanguinity not reported so no deduction applied) = 1.5; Segregation = 0; Case-control = 0 Family 4 total = 1.5 PMID: 39504961 total = 6.0 Published genetic evidence total = 7.0 / 12 Genetic evidence – Our Cases Family 1– one proband. Case-level (biallelic predicted null in AR model; homozygous; consanguinity −0.5 applied) = 1.0;Segregation = 0; Case-control = 0 Family 6 total = 1.0 Family 2 – one proband. Case-level (biallelic predicted null in AR model; homozygous; consanguinity unknown so no deduction applied) = 1.5;Segregation = 0; Case-control = 0 Family 2 total = 1.5 Family 3– one proband. Case-level (biallelic predicted null in AR model; homozygous; consanguinity −0.5 applied) = 1.0; Segregation = 0; Case-control = 0 Family 3 total = 1.0 Family 4 – one proband. Case-level (biallelic predicted null in AR model; homozygous; consanguinity −0.5 applied) = 1.0; Segregation = 0; Case-control = 0 Family 4 total = 1.0 Our Cases Total = 4.5 / 12 Updated Total Genetic Evidence (Published + Our Cases) Published genetic evidence: 7.0 Our additional cases: 4.5 Updated genetic total = 11.5 Experimental Evidence – Published PMID: 29450879 – Functional alteration (RT-PCR demonstrating mutant transcript does not undergo NMD) = 1.0 Gene function / biological plausibility (MYO10 role in filopodia and embryonic eye morphogenesis; strong retinal expression) = 0.5 Animal/model evidence (Myo10 mutant mice with anophthalmia, severe microphthalmia, coloboma, retinal abnormalities) = 2.0 Experimental evidence total = 3.5 / 6 Updated Overall Score Genetic evidence = 11.5 Experimental evidence = 3.5 Updated total = 15.0 / 18 First report PMID 29450879 (2018) Additional publication 2025 (PMID 39504961)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYO10 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 339
not providedTotal: 30

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_012334.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
11
clinvar
6
clinvar
11
clinvar
 28
missense
339
clinvar
9
clinvar
5
clinvar
 353
nonsense
4
clinvar
 4
start loss
0
frameshift
1
clinvar
1
clinvar
 2
splice donor/acceptor (+/-2bp)
11
clinvar
 11
Total013661516398
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_012334.3RefSeqNP_036466.241MANE Select
ENST00000513610.6EnsemblENSP00000421280.141MANE Select
ENST00000274203.13EnsemblENSP00000274203.1041Standard
ENST00000274203.14EnsemblENSP00000274203.1041Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Fc gamma R-mediated phagocytosis - Homo sapiens (human)
  • miR-targeted genes in epithelium - TarBase
  • miR-targeted genes in lymphocytes - TarBase
  • miR-targeted genes in muscle cell - TarBase
  • Developmental Biology

Biological Process

  • regulation of cell shape
  • positive regulation of cell-cell adhesion
  • cytoskeleton-dependent intracellular transport
  • Fc-gamma receptor signaling pathway involved in phagocytosis
  • regulation of filopodium assembly

Molecular Function

  • motor activity
  • protein binding
  • calmodulin binding
  • ATP binding
  • phosphatidylinositol-3,4,5-trisphosphate binding

Cellular Component

  • ruffle
  • nucleolus
  • cytosol
  • plasma membrane
  • cell cortex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000513610
Coding exons
41
Length
270978
Individuals with no LoFs
124592
Homozygous LoFs
0
Heterozygous LoFs
70
Defined
124662
p
0.000281
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.6210271.18e+30.8680.000074413551
Missense (PolyPhen)517636.290.812527455
Synonymous-1.545414971.090.00003483793
Loss of Function7.17321150.2780.000006461292

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000210.00019rare
Latino/Admixed American0.000360.00035rare
Ashkenazi Jewish00.0absent
East Asian0.000390.00039rare
Finnish0.000230.00023rare
European (Non-Finnish)0.000320.00032rare
South Asian0.000200.00020rare
Other0.000170.00017rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. MYO10 binds to actin filaments and actin bundles and functions as plus end-directed motor. The tail domain binds to membranous compartments containing phosphatidylinositol 3,4,5-trisphosphate or integrins, and mediates cargo transport along actin filaments. Regulates cell shape, cell spreading and cell adhesion. Stimulates the formation and elongation of filopodia. May play a role in neurite outgrowth and axon guidance. In hippocampal neurons it induces the formation of dendritic filopodia by trafficking the actin-remodeling protein VASP to the tips of filopodia, where it promotes actin elongation. Plays a role in formation of the podosome belt in osteoclasts. {ECO:0000269|PubMed:16894163, ECO:0000269|PubMed:18570893}.;

Recessive Scores

pRec
0.203

Intolerance Scores

RVIS EVS
-1.61
RVIS percentile EVS
2.97

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Essential (gene trap)
H
Indispensability pred.
E
Indispensability score
0.735

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh
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