MYO19

protein-coding

myosin 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]

Previous symbols:
  • MYOHD1

MANE transcript

NM_001163735.2

Inheritance

—

ClinVar variants

U:210B:13

Top phenotype

ZNHIT3-related disorder

Max pathogenic AF

—

Genomic locus

chr17:36,495,636-36,543,435

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~47.8 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 MYO19 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 202
not providedTotal: 11
ZNHIT3-related disorderTotal: 1

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
3
clinvar
2
clinvar
6
missense
200
clinvar
7
clinvar
1
clinvar
208
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
8
clinvar
8
Total00210103223
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 95 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001163735.2RefSeqNP_001157207.124MANE Select
ENST00000614623.5EnsemblENSP00000479518.124MANE Select
NM_001033580.3RefSeqNP_001028752.19Standard
NM_025109.6RefSeqNP_079385.220Standard

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: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium
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