RMI2

Chr 16

RecQ mediated genome instability 2

Also known as: BLAP18, C16orf75

NCBI Gene: 116028ENSG00000175643UniProt: Q96E14

RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]

78
ClinVar variants
16
Pathogenic / LP
0.02
pLI score
0
Active trials
Clinical Summary— RMI2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 59 VUS of 78 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.
1.91LOEUF
pLI 0.019
Z-score -0.35
OE 1.31 (0.43–1.91)
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.
-0.62Z-score
OE missense 1.30 (1.02–1.66)
45 obs / 34.7 exp
Tolerant

Tolerant to missense variation

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.1.31 (0.43–1.91)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.30 (1.02–1.66)
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.1.54
0≤1.21.6
LoF obs/exp: 2 / 1.5Missense obs/exp: 45 / 34.7Syn Z: -1.49

ClinVar Variant Classifications

78 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
VUS59
Likely Benign3
16
Pathogenic
59
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
0
0
0
VUS
0
45
14
0
59
Likely Benign
0
2
1
0
3
Benign
0
0
0
0
0
Total04731078

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

View in ClinVar →

Protein Context — Lollipop Plot

RMI2 · 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
📖
GeneReview available — RMI2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
Tsukada K et al.·Mol Cell
2024Functional
A combined bioinformatics and experimental approach identifies RMI2 as a Wnt/β-catenin signaling target gene related to hepatocellular carcinoma.
Tsai HW et al.·BMC Cancer
2023
RMI2 is a prognostic biomarker and promotes tumor growth in hepatocellular carcinoma.
Li Y et al.·Clin Exp Med
2022
RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers.
Wei W et al.·Aging (Albany NY)
2022
Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes.
Zheng T et al.·J Crohns Colitis
2024Meta-analysis
The Clinical Significance of RMI2 in Hepatocellular Carcinoma.
Zheng Ms B et al.·Technol Cancer Res Treat
2021
Glabridin inhibits proliferation and migration in hepatocellular carcinoma by regulating multi-targets.
Wang F et al.·J Ethnopharmacol
2025
Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications.
Toh M et al.·Oncologist
2021Review
Targeting the MYCN-PARP-DNA Damage Response Pathway in Neuroendocrine Prostate Cancer.
Zhang W et al.·Clin Cancer Res
2018
Top3-Rmi1 dissolve Rad51-mediated D loops by a topoisomerase-based mechanism.
Fasching CL et al.·Mol Cell
2015Functional
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