MYO19
protein-codingmyosin XIX, the group of Myosin heavy chains, class XIX
Gene summary
Enables ATP hydrolysis activity and actin binding activity. Involved in regulation of cytokinesis and regulation of mitochondrial fission. Acts upstream of or within mitochondrion migration along actin filament. Located in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]
- MYOHD1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~47.8 kbGenCC 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 MYO19 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001163735.2. 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 | 3 | 2 | 6 | ||
| missense | 200 | 7 | 1 | 208 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 8 | 8 | ||||
| Total | 0 | 0 | 210 | 10 | 3 | 223 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001157207.1 | 24 | MANE Select | |
| Ensembl | ENSP00000479518.1 | 24 | MANE Select | |
| RefSeq | NP_001028752.1 | 9 | Standard | |
| RefSeq | NP_079385.2 | 20 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- regulation of cytokinesis
- mitochondrion migration along actin filament
- regulation of mitochondrial fission
Molecular Function
- actin binding
- ATP binding
- ATPase activity
- myosin light chain binding
- plus-end directed microfilament motor activity
Cellular Component
- mitochondrion
- mitochondrial outer membrane
- cytosol
- myosin complex
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane (PubMed:19932026, PubMed:23568824, PubMed:25447992). Motor protein that moves towards the plus-end of actin filaments (By similarity). Required for mitochondrial inheritance during mitosis (PubMed:25447992). May be involved in mitochondrial transport or positioning (PubMed:23568824). {ECO:0000250|UniProtKB:Q5SV80, ECO:0000269|PubMed:19932026, ECO:0000269|PubMed:25447992, ECO:0000305|PubMed:23568824}.;
Intolerance Scores
- RVIS EVS
- 0.52
- RVIS percentile EVS
- 80.4
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.421
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |