MYLIP

Chr 6

myosin regulatory light chain interacting protein

Also known as: IDOL, MIR

NCBI Gene: 29116ENSG00000007944UniProt: Q8WY64

The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]

165
ClinVar variants
22
Pathogenic / LP
0.18
pLI score
0
Active trials
Clinical Summary— MYLIP
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.
📋
ClinVar Variants
22 Pathogenic / Likely Pathogenic· 98 VUS of 165 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.
0.54LOEUF
pLI 0.184
Z-score 3.06
OE 0.25 (0.13–0.54)
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.
1.08Z-score
OE missense 0.81 (0.72–0.91)
205 obs / 253.4 exp
Tolerant

Mild missense constraint

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.0.25 (0.13–0.54)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.81 (0.72–0.91)
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.1.00
0≤1.21.6
LoF obs/exp: 5 / 19.6Missense obs/exp: 205 / 253.4Syn Z: 0.03

ClinVar Variant Classifications

165 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic2
VUS98
Likely Benign40
Benign4
Conflicting1
20
Pathogenic
2
Likely Pathogenic
98
VUS
40
Likely Benign
4
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
20
0
20
Likely Pathogenic
0
0
2
0
2
VUS
2
87
9
0
98
Likely Benign
0
4
9
27
40
Benign
0
2
0
2
4
Conflicting
—1
Total2934029165

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

View in ClinVar →

Protein Context — Lollipop Plot

MYLIP · 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
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of MYLIP gene and miRNA-802 involved in the growth and metastasis of cervical cancer cells.
Ni M et al.·Cancer Biomark
2021
MYLIP p.N342S polymorphism is not associated with lipid profile in the Brazilian population.
Santos PC et al.·Lipids Health Dis
2012
The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans.
Weissglas-Volkov D et al.·J Clin Invest
2011
E3 Ubiquitination Ligase MYLIP Mediates the NKRF/SLC25A34 Axis to Suppress Malignant Progression in Colorectal Cancer.
Li C et al.·Dig Dis Sci
2025
The MYLIP p.N342S polymorphism is associated with response to lipid-lowering therapy in Brazilian patients with familial hypercholesterolemia.
Santos PC et al.·Pharmacogenet Genomics
2014Cohort
RP1-13D10.2 Is a Novel Modulator of Statin-Induced Changes in Cholesterol.
Mitchel K et al.·Circ Cardiovasc Genet
2016
IDOL G51S Variant Is Associated With High Blood Cholesterol and Increases Low-Density Lipoprotein Receptor Degradation.
Adi D et al.·Arterioscler Thromb Vasc Biol
2019
A novel lncRNA-mRNA-miRNA signature predicts recurrence and disease-free survival in cervical cancer.
Li M et al.·Braz J Med Biol Res
2021
Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.
Sorrentino V et al.·Eur Heart J
2013
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