RDM1

Chr 17

RAD52 motif containing 1

Also known as: RAD52B

NCBI Gene: 201299ENSG00000278023UniProt: Q8NG50

This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]

0
Active trials
6
Pathogenic / LP
36
ClinVar variants
1
Pubs (1 yr)
0.3
Missense Z
1.60
LOEUF
Clinical Summary— RDM1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 28 VUS of 36 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.
1.60LOEUF
pLI 0.000
Z-score 0.01
OE 1.00 (0.64–1.60)
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 0.93 (0.81–1.07)
142 obs / 152.4 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.1.00 (0.64–1.60)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.93 (0.81–1.07)
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.0.82
0≤1.21.6
LoF obs/exp: 12 / 12.0Missense obs/exp: 142 / 152.4Syn Z: 1.12

ClinVar Variant Classifications

36 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
VUS28
Likely Benign2
6
Pathogenic
28
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
0
0
0
VUS
0
24
4
0
28
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total02610036

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

View in ClinVar →

Protein Context — Lollipop Plot

RDM1 · 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 Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Correlation analysis of RDM1 gene with immune infiltration and clinical prognosis of hepatocellular carcinoma.
Qiu C et al.·Biosci Rep
2021
RDM1 plays an oncogenic role in human lung adenocarcinoma cells.
Tong L et al.·Sci Rep
2018
Loss of RDM1 enhances hepatocellular carcinoma progression via p53 and Ras/Raf/ERK pathways.
Chen SL et al.·Mol Oncol
2020
RDM1 promotes neuroblastoma growth through the RAS-Raf-MEK-ERK pathway.
Xie G et al.·FEBS Open Bio
2019
RDM1 plays an oncogenic role in human ovarian carcinoma cells.
Tong L et al.·Artif Cells Nanomed Biotechnol
2020
The important molecular markers on chromosome 17 and their clinical impact in breast cancer.
Zhang W et al.·Int J Mol Sci
2011Review
Identification of an endoplasmic reticulum stress-related prognostic risk model with excellent prognostic and clinical value in oral squamous cell carcinoma.
Cheng M et al.·Aging (Albany NY)
2023Functional
MEK/ERK inhibitor U0126 affects in vitro and in vivo growth of embryonal rhabdomyosarcoma.
Marampon F et al.·Mol Cancer Ther
2009
MEK/ERK inhibitor U0126 increases the radiosensitivity of rhabdomyosarcoma cells in vitro and in vivo by downregulating growth and DNA repair signals.
Marampon F et al.·Mol Cancer Ther
2011
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Correction to RDM1 promotes critical processes in breast cancer tumorigenesis
·J Cell Mol Med
2023
BPM1 regulates RdDM-mediated DNA methylation via a cullin 3 independent mechanism.
Jagić M et al.·Plant Cell Rep
2022Functional
Genetic analysis implicates a molecular chaperone complex in regulating epigenetic silencing of methylated genomic regions.
Feng Z et al.·J Integr Plant Biol
2021
Roles of IDM3 and SDJ1/2/3 in Establishment and/or Maintenance of DNA Methylation in Arabidopsis.
Miao W et al.·Plant Cell Physiol
2021
The genetic architecture of complete blood counts in lactating Holstein dairy cows
Siberski-Cooper CJ et al.·Front Genet
2024
Regulatory mechanism of a heat-activated retrotransposon by DDR complex in Arabidopsis thaliana
Niu X et al.·Front Plant Sci
2022Functional
The identification of the methylation patterns of tomato curly stunt virus in resistant and susceptible tomato lines
Mulaudzi PE et al.·Front Plant Sci
2023
Top 7 full-text resultsSearch PubTator3 ↗

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