MYO1C

Chr 17

myosin IC

Also known as: MMI-beta, MMIb, MyoIC, NMI, myr2

NCBI Gene: 4641ENSG00000197879UniProt: O00159

This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]

461
ClinVar variants
86
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MYO1C
🧬
Gene-Disease Validity (ClinGen)
nonsyndromic genetic hearing loss · ADDisputed

Disputed — evidence questions this relationship

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
86 Pathogenic / Likely Pathogenic· 200 VUS of 461 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
0.68LOEUF
pLI 0.000
Z-score 3.70
OE 0.51 (0.39–0.68)
Tolerant

Typical tolerance to LoF variation

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.
-0.64Z-score
OE missense 1.07 (1.00–1.14)
703 obs / 657.1 exp
Tolerant

Tolerant to missense variation

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.0.51 (0.39–0.68)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.07 (1.00–1.14)
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.1.28
0≤1.21.6
LoF obs/exp: 34 / 66.6Missense obs/exp: 703 / 657.1Syn Z: -3.63

ClinVar Variant Classifications

461 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic67
Likely Pathogenic19
VUS200
Likely Benign78
Benign96
Conflicting1
67
Pathogenic
19
Likely Pathogenic
200
VUS
78
Likely Benign
96
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
67
0
67
Likely Pathogenic
0
0
19
0
19
VUS
0
183
17
0
200
Likely Benign
0
12
35
31
78
Benign
0
8
79
9
96
Conflicting
—1
Total020321740461

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

View in ClinVar →

Protein Context — Lollipop Plot

MYO1C · 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 IC; MYO1C
MIM #606538 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Liraglutide Promotes Diabetic Wound Healing via Myo1c/Dock5.
Zhang Q et al.·Adv Sci (Weinh)
2024
The motor protein Myo1c regulates transforming growth factor-β-signaling and fibrosis in podocytes.
Arif E et al.·Kidney Int
2019
MYO1C is a urinary extracellular vesicle biomarker and mediator of podocyte injury in diabetic nephropathy.
Zhao Z et al.·JCI Insight
2026
Elevation of truncated (48 kDa) form of unconventional myosin 1C in blood serum correlates with severe Covid-19.
Kit Y et al.·J Immunol Methods
2023
Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy.
Xu H et al.·Nephron
2023Cohort
Necroptosis-Related Prognostic Signature and Nomogram Model for Predicting the Overall Survival of Patients with Lung Cancer.
Xuan Y et al.·Genet Res (Camb)
2022Cohort
The circling behavior of the deafblind LEW-ci2 rat is linked to a segment of RNO10 containing Myo15 and Kcnj12.
Chwalisz WT et al.·Mamm Genome
2003
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