MYOM3

protein-coding

myomesin 3, the group of I-set domain containing|Myosin binding proteins

Gene summary

Predicted to enable protein homodimerization activity. Predicted to be a structural constituent of muscle. Predicted to be involved in sarcomere organization. Predicted to be active in M band. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_152372.4

Inheritance

—

ClinVar variants

U:274B:17

Top phenotype

Flexion contracture

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr1:24,056,035-24,112,135

External References & Databases

Ensembl (ENSG00000142661)

Transcript & Mutation Effects

hg38 • Region Span ~56.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYOM3 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 269

not providedTotal: 7

Flexion contractureTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152372.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	5 clinvar		8
missense			262 clinvar	12 clinvar		274
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	274	17	0	291

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152372.4	RefSeq	NP_689585.3	36	MANE Select
ENST00000374434.4	Ensembl	ENSP00000363557.3	36	MANE Select
ENST00000338909.10	Ensembl	ENSP00000342689.5	10	Standard
ENST00000338909.9	Ensembl	ENSP00000342689.5	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

muscle contraction
skeletal muscle thin filament assembly
skeletal muscle myosin thick filament assembly
sarcomere organization
cardiac muscle fiber development

Molecular Function

structural constituent of muscle
protein homodimerization activity
actin filament binding
muscle alpha-actinin binding

Cellular Component

striated muscle thin filament
sarcomere
Z disc
M band

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374434
Coding exons: 36
Length: 56141
Individuals with no LoFs: 122862
Homozygous LoFs: 26
Heterozygous LoFs: 1920
Defined: 124808
p: 0.00783

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.654	908	854	1.06	0.0000537	9228
Missense (PolyPhen)		280	263.66	1.062		2939
Synonymous	-0.654	378	362	1.04	0.0000250	2831
Loss of Function	0.726	76	83.1	0.914	0.00000430	937

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00097	0.00097	rare
Latino/Admixed American	0.0044	0.0041	notable
Ashkenazi Jewish	0.0024	0.0024	notable
East Asian	0.027	0.027	notable
Finnish	0.00047	0.00046	rare
European (Non-Finnish)	0.0030	0.0030	notable
South Asian	0.031	0.030	notable
Other	0.0043	0.0043	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May link the intermediate filament cytoskeleton to the M-disk of the myofibrils in striated muscle. {ECO:0000250}.;

Recessive Scores

pRec: 0.0998

Intolerance Scores

LoFtool: 0.963
RVIS EVS: 1.16
RVIS percentile EVS: 92.65

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.117

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High