MYO1B

Chr 2

myosin IB

Also known as: MMI-alpha, MMIa, MYH-1c, myr1

NCBI Gene: 4430ENSG00000128641UniProt: O43795

Enables ATP binding activity; actin filament binding activity; and microfilament motor activity. Involved in actin filament organization and post-Golgi vesicle-mediated transport. Located in several cellular components, including actin filament; endosome; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Jul 2025]

179
ClinVar variants
30
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MYO1B
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 118 VUS of 179 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.43LOEUF
pLI 0.000
Z-score 5.54
OE 0.30 (0.21–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.43Z-score
OE missense 0.72 (0.67–0.78)
446 obs / 615.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.30 (0.21–0.43)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.72 (0.67–0.78)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 22 / 73.1Missense obs/exp: 446 / 615.9Syn Z: -0.40

ClinVar Variant Classifications

179 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic29
Likely Pathogenic1
VUS118
Likely Benign1
Benign4
29
Pathogenic
1
Likely Pathogenic
118
VUS
1
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
28
0
29
Likely Pathogenic
0
0
1
0
1
VUS
0
117
1
0
118
Likely Benign
0
1
0
0
1
Benign
0
1
0
3
4
Total1119303153

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MYO1B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
MYOSIN IB; MYO1B
MIM #606537 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
MYO1B as a prognostic biomarker and a therapeutic target in Arecoline-associated oral carcinoma.
Sun Z et al.·Mol Carcinog
2023
Targeting MYO1B impairs tumorigenesis via inhibiting the SNAI2/cyclin D1 signaling in esophageal squamous cell carcinoma.
Li SH et al.·J Cell Physiol
2022
Energy stress-induced circZFR enhances oxidative phosphorylation in lung adenocarcinoma via regulating alternative splicing.
Ma Z et al.·J Exp Clin Cancer Res
2023
Myosin 1b promotes cell proliferation, migration, and invasion in cervical cancer.
Zhang HR et al.·Gynecol Oncol
2018
Screening the human druggable genome identifies ABHD17B as an anti-fibrotic target in hepatic stellate cells.
Li W et al.·Nat Commun
2025
Exosomal SLC1A5 from senescent endothelial cells promotes gastric cancer progression by dampening ferroptosis via the EGFR/SRC/YAP1/GPX4 signaling.
Zhang Y et al.·Free Radic Biol Med
2025
[High MYO1B expression promotes proliferation, migration and invasion of gastric cancer cells and is associated with poor patient prognosis].
Huang Q et al.·Nan Fang Yi Ke Da Xue Xue Bao
2025
Passenger strand of miR-145-3p acts as a tumor-suppressor by targeting MYO1B in head and neck squamous cell carcinoma.
Yamada Y et al.·Int J Oncol
2018
Specific Myosins Control Actin Organization, Cell Morphology, and Migration in Prostate Cancer Cells.
Makowska KA et al.·Cell Rep
2015
Construction of a hypoxia-immune-related prognostic model and targeted therapeutic strategies for cervical cancer.
Xie S et al.·Int Immunol
2022Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools