MYH13

protein-coding

myosin heavy chain 13, the group of Myosin heavy chains, class II

Gene summary

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in muscle contraction. Predicted to act upstream of or within cellular response to starvation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_003802.3

Inheritance

—

ClinVar variants

U:334B:14

Top phenotype

MYH13-related disorder

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr17:10,300,865-10,373,130

External References & Databases

Ensembl (ENSG00000006788)

Transcript & Mutation Effects

hg38 • Region Span ~72.3 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 MYH13 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 328

not providedTotal: 8

MYH13-related disorderTotal: 8

See casesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003802.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	5 clinvar		6
missense			329 clinvar	7 clinvar	2 clinvar	338
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	334	12	2	348

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003802.3	RefSeq	NP_003793.2	39	MANE Select
ENST00000252172.9	Ensembl	ENSP00000252172.4	39	MANE Select
ENST00000418404.8	Ensembl	ENSP00000404570.3	39	Standard
ENST00000621918.1	Ensembl	ENSP00000480864.1	39	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Tight junction - Homo sapiens (human)

Biological Process

muscle contraction
cellular response to starvation

Molecular Function

microfilament motor activity
calmodulin binding
ATP binding
actin filament binding

Cellular Component

muscle myosin complex
myofibril
myosin filament
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000418404
Coding exons: 39
Length: 75047
Individuals with no LoFs: 125061
Homozygous LoFs: 1
Heterozygous LoFs: 686
Defined: 125748
p: 0.00274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.105	1079	1.09e+3	0.991	0.0000658	12876
Missense (PolyPhen)		458	459.22	0.99734		5901
Synonymous	0.153	438	442	0.991	0.0000289	3458
Loss of Function	2.45	76	103	0.739	0.00000514	1254

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0042	0.0041	notable
Latino/Admixed American	0.00094	0.00090	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.0051	0.0050	notable
Finnish	0.0020	0.0020	notable
European (Non-Finnish)	0.0021	0.0020	notable
South Asian	0.0067	0.0067	notable
Other	0.0023	0.0023	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles. {ECO:0000269|PubMed:23908353}.;

Recessive Scores

pRec: 0.188

Intolerance Scores

RVIS EVS: -0.64
RVIS percentile EVS: 16.74

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.704

Gene Damage Prediction

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