MYO1G

Chr 7

myosin IG

Also known as: HA2, HLA-HA2, MHAG

NCBI Gene: 64005ENSG00000136286UniProt: B0I1T2

MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]

204
ClinVar variants
24
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MYO1G
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 174 VUS of 204 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.
0.65LOEUF
pLI 0.000
Z-score 3.67
OE 0.46 (0.34–0.65)
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.
1.86Z-score
OE missense 0.79 (0.74–0.85)
511 obs / 643.9 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.0.46 (0.34–0.65)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.79 (0.74–0.85)
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.0.85
0≤1.21.6
LoF obs/exp: 25 / 54.2Missense obs/exp: 511 / 643.9Syn Z: 1.86

ClinVar Variant Classifications

204 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic1
VUS174
Likely Benign6
23
Pathogenic
1
Likely Pathogenic
174
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
1
0
1
VUS
0
169
5
0
174
Likely Benign
0
3
1
2
6
Benign
0
0
0
0
0
Total0172302204

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

View in ClinVar →

Protein Context — Lollipop Plot

MYO1G · 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 IG; MYO1G
MIM #600642 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
The emerging role of blood-based biomarkers in early detection of colorectal cancer: A systematic review.
Shweikeh F et al.·Cancer Treat Res Commun
2024Review
In silico evaluation of the immunogenic profile of lung cancers with SMARCA4 genetic alterations.
Nieto-Jiménez C et al.·Sci Rep
2025
Myosin 1g as a high-risk biomarker in a pediatric patient with lineage switch from acute lymphoblastic leukemia to myeloid phenotype.
Araujo-Cárdenas JE et al.·Bol Med Hosp Infant Mex
2023Case report
In-Depth Proteomics Analysis to Identify Biomarkers of Papillary Thyroid Cancer Patients Older Than 45 Years with Different Degrees of Lymph Node Metastases.
Zhan S et al.·Proteomics Clin Appl
2019Cohort
Correlation of the methylomic signature of smoking during pregnancy with clinical traits in ADHD.
Chaumette B et al.·J Psychiatry Neurosci
2023
Identification of cytoskeleton-associated proteins essential for lysosomal stability and survival of human cancer cells.
Groth-Pedersen L et al.·PLoS One
2012
HA-1 and HA-2 minor histocompatibility antigens in Tunisians.
Sellami MH et al.·Tissue Antigens
2010
A proteomics research of apoptosis of leukemia cells induced by arsenic trioxide.
Wang L et al.·Cell Mol Biol (Noisy-le-grand)
2017
Cancer stem cell marker DCLK1 reprograms small extracellular vesicles toward migratory phenotype in gastric cancer cells.
Carli ALE et al.·Proteomics
2021
Clinical application value of MYO1-G methylation in plasma circulating tumor DNA combined with fecal occult blood test for early screening of colorectal cancer.
Kang D et al.·Clin Res Hepatol Gastroenterol
2025
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