RECQL5
Chr 17RecQ like helicase 5
Also known as: RECQ5
The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
Clinical Summary— RECQL5
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📖
Open GeneReview ↗GeneReview available — RECQL5
Authoritative clinical overview · Recommended first read
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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.
0.98LOEUF
pLI 0.000
Z-score 1.68
OE 0.73 (0.56–0.98)
Typical tolerance to LoF variation
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.
-0.00Z-score
OE missense 1.00 (0.93–1.07)
577 obs / 576.7 exp
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.0.73 (0.56–0.98)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.00 (0.93–1.07)
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.0.98
0≤1.21.6
LoF obs/exp: 34 / 46.3Missense obs/exp: 577 / 576.7Syn Z: 0.22
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RECQL5 · 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
RECQ PROTEIN-LIKE 5; RECQL5
MIM #603781 · *
External Resources
Links to major genomics databases and tools
📖
Open GeneReview ↗GeneReview available — RECQL5
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
Tsukada K et al.·Mol Cell
2024Functional
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
Försti A et al.·Int J Cancer
2025
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
Tavera-Tapia A et al.·Hum Mutat
2019
Targeting RECQL5 Functions, by a Small Molecule, Selectively Kills Breast Cancer in Vitro and in Vivo.
Chakraborty S et al.·J Med Chem
2021
Human RECQL5 promotes metastasis and resistance to cisplatin in non-small cell lung cancer.
Xia HW et al.·Life Sci
2021
RecQ helicases and PARP1 team up in maintaining genome integrity.
Veith S et al.·Ageing Res Rev
2015Review
Functional relation among RecQ family helicases RecQL1, RecQL5, and BLM in cell growth and sister chromatid exchange formation.
Wang W et al.·Mol Cell Biol
2003Cohort
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.
Hinić S et al.·Eur J Hum Genet
2025
Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
Fu W et al.·Hum Mutat
2017
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Distinct roles of RECQL5 in RAD51-mediated fork reversal and transcription elongation.
Nagraj T et al.·Nucleic Acids Res
2025Open Access
Structural insights into transcriptional regulation by the helicase RECQL5.
Florez Ariza AJ et al.·Nat Struct Mol Biol
2025Open Access
Structural basis of RECQL5-induced RNA polymerase II transcription braking and subsequent reactivation.
Zhang L et al.·Nat Struct Mol Biol
2025Open Access
Recql5-Deficient Mice as a Model for Studying Chromoanagenesis Phenomena.
Iwata S et al.·Methods Mol Biol
2025Functional
A Recql5 mutant facilitates complex CRISPR/Cas9-mediated chromosomal engineering in mouse zygotes.
Iwata S et al.·Genetics
2024Open AccessFunctional
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility
Marchena-Perea EM et al.·Cancers (Basel)
2022
Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia
Tang Y et al.·Front Genet
2023Case report
Impact of metabolism-related mutations on the heart rate of gastric cancer patients after peritoneal lavage
Yuan Y et al.·World J Clin Cases
2021Cohort
Structural insights into transcriptional regulation by the helicase RECQL5
Ariza AJF et al.·bioRxiv
2025
RECQL5 KIX domain splicing isoforms have distinct functions in transcription repression and DNA damage response.
Ding D et al.·DNA Repair (Amst)
2021
Top 5 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