MLF2

Chr 12

myeloid leukemia factor 2

Also known as: NTN4

NCBI Gene: 8079ENSG00000089693UniProt: Q15773

The MLF2 protein regulates DNA-templated transcription and is located in cellular membranes. This gene is highly constrained against loss-of-function variants (pLI = 0.86, LOEUF = 0.41), but no established human genetic disorders have been definitively associated with MLF2 mutations to date.

Summary from RefSeq
Research Assistant →
0
Active trials
6
Pubs (1 yr)
45
P/LP submissions
0%
P/LP missense
0.41
LOEUF
—
Mechanism
Clinical Summary— MLF2
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.86) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
45 unique Pathogenic / Likely Pathogenic· 48 VUS of 109 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.41LOEUF
pLI 0.860
Z-score 3.14
OE 0.13 (0.05–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.61Z-score
OE missense 0.66 (0.56–0.77)
114 obs / 173.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.13 (0.05–0.41)
0≤0.351.4
Missense OE0.66 (0.56–0.77)
0≤0.61.4
Synonymous OE0.86
0≤1.21.6
LoF obs/exp: 2 / 15.2Missense obs/exp: 114 / 173.6Syn Z: 0.79

ClinVar Variant Classifications

109 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic43
Likely Pathogenic2
VUS48
43
Pathogenic
2
Likely Pathogenic
48
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
43
0
43
Likely Pathogenic
0
0
2
0
2
VUS
0
40
8
0
48
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total04053093

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

View in ClinVar →

Protein Context — Lollipop Plot

MLF2 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients