MYO5C

protein-coding

myosin VC, the group of MicroRNA protein coding host genes|Myosin heavy chains, class V

Gene summary

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization and endocytosis. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_018728.4

Inheritance

—

ClinVar variants

U:263B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr15:52,192,322-52,295,804

External References & Databases

Ensembl (ENSG00000128833)

Transcript & Mutation Effects

hg38 • Region Span ~103.5 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 MYO5C variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 253

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018728.4. 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			1 clinvar	1 clinvar		2
missense			252 clinvar	12 clinvar	1 clinvar	265
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	263	13	1	277

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018728.4	RefSeq	NP_061198.2	41	MANE Select
ENST00000261839.12	Ensembl	ENSP00000261839.7	41	MANE Select
ENST00000558479.1	Ensembl	ENSP00000453514.1	3	Standard
ENST00000558902.5	Ensembl	ENSP00000453517.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

motor activity
calmodulin binding
ATP binding
actin filament binding

Cellular Component

myosin complex
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261839
Coding exons: 41
Length: 103477
Individuals with no LoFs: 124601
Homozygous LoFs: 0
Heterozygous LoFs: 257
Defined: 124858
p: 0.00103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.482	915	957	0.956	0.0000540	11619
Missense (PolyPhen)		353	389.15	0.9071		4642
Synonymous	0.714	340	357	0.952	0.0000219	3097
Loss of Function	2.91	74	106	0.696	0.00000570	1229

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0020	0.0020	notable
Latino/Admixed American	0.0016	0.0016	notable
Ashkenazi Jewish	0.00060	0.00050	rare
East Asian	0.00090	0.00089	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00096	0.00095	rare
South Asian	0.0012	0.0011	notable
Other	0.00084	0.00082	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues.;

Recessive Scores

pRec: 0.249

Intolerance Scores

LoFtool: 0.198
RVIS EVS: 0.31
RVIS percentile EVS: 72.39

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.717

Gene Damage Prediction

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