MTFR2

Chr 6

mitochondrial fission regulator 2

Also known as: DUFD1, FAM54A

NCBI Gene: 113115ENSG00000146410UniProt: Q6P444

Predicted to be involved in aerobic respiration and mitochondrial fission. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

81
ClinVar variants
18
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MTFR2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 57 VUS of 81 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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.
1.11LOEUF
pLI 0.000
Z-score 1.24
OE 0.67 (0.42–1.11)
Tolerant

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.
0.30Z-score
OE missense 0.94 (0.84–1.06)
194 obs / 206.1 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.0.67 (0.42–1.11)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.84–1.06)
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.0.86
0≤1.21.6
LoF obs/exp: 11 / 16.4Missense obs/exp: 194 / 206.1Syn Z: 0.95

ClinVar Variant Classifications

81 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic18
VUS57
Likely Benign5
Benign1
18
Pathogenic
57
VUS
5
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
18
0
18
Likely Pathogenic
0
0
0
0
0
VUS
0
57
0
0
57
Likely Benign
0
5
0
0
5
Benign
0
1
0
0
1
Total06318081

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

View in ClinVar →

Protein Context — Lollipop Plot

MTFR2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Evaluation of clinical value and potential mechanism of MTFR2 in lung adenocarcinoma via bioinformatics.
Chen C et al.·BMC Cancer
2021Functional
Mechanism of Astragaloside-Brucea javanica oil nanoemulsion against oral squamous cell carcinoma through CDK1/MTFR2: Network pharmacology, bioinformatics, and experimental studies.
Lai Y et al.·PLoS One
2025Functional
Upregulated expression of MTFR2 as a novel biomarker predicts poor prognosis in hepatocellular carcinoma by bioinformatics analysis.
Li D et al.·Future Oncol
2021
Identification of mitochondrial-related genes to evaluate the immune infiltration and prognosis of lung adenocarcinoma.
Ge Y et al.·PeerJ
2025
Identification of molecular subtypes and a prognostic risk model based on mitochondrial dynamic related genes in clear cell renal cell carcinoma.
Yang K et al.·Biochem Biophys Res Commun
2025Functional
A Comprehensive Bioinformatics Analysis of UBE2C in Cancers.
Dastsooz H et al.·Int J Mol Sci
2019
Salivary Gland Cancer Patient-Derived Xenografts Enable Characterization of Cancer Stem Cells and New Gene Events Associated with Tumor Progression.
Keysar SB et al.·Clin Cancer Res
2018
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