MYADML2
Chr 17myeloid associated differentiation marker like 2
Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— MYADML2
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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.
1.74LOEUF
pLI 0.000
Z-score 0.09
OE 0.96 (0.52–1.74)
Highly tolerant — LoF variants common in population
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.
0.61Z-score
OE missense 0.88 (0.78–0.99)
185 obs / 210.1 exp
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.0.96 (0.52–1.74)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.78–0.99)
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.0.91
0≤1.21.6
LoF obs/exp: 6 / 6.2Missense obs/exp: 185 / 210.1Syn Z: 0.73
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MYADML2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Research advances of MAL family members in tumorigenesis and tumor progression (Review).
Li M et al.·Mol Med Rep
2024Review
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.
Yıldız Bölükbaşı E et al.·J Hum Genet
2021Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
CRISPR activation screening in a mouse model for drivers of hepatocellular carcinoma growth and metastasis
Zhang B et al.·iScience
2023Functional
Integration of Transcriptomics and Non-Targeted Metabolomics Reveals the Underlying Mechanism of Skeletal Muscle Development in Duck during Embryonic Stage
Hu Z et al.·Int J Mol Sci
2023Functional
The MAL Family of Proteins: Normal Function, Expression in Cancer, and Potential Use as Cancer Biomarkers
Labat-de-Hoz L et al.·Cancers (Basel)
2023
Construction and analysis of the abnormal lncRNA-miRNA-mRNA network in hypoxic pulmonary hypertension
Liu J et al.·Biosci Rep
2021
Transcriptomic analysis identifies the neuropeptide cortistatin (CORT) as an inhibitor of temozolomide (TMZ) resistance by suppressing the NF-kappaB-MGMT signaling axis in human glioma
He Z et al.·Genes Dis
2023
A review of the literature on the use of CRISPR/Cas9 gene therapy to treat hepatocellular carcinoma
Amjad E et al.·Oncol Res
2024Review
Top 8 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools