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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RAD54L2
RAD54 like 2
Chromosome 3 · 3p21.2
NCBI Gene: 23132Ensembl: ENSG00000164080.15HGNC: HGNC:29123UniProt: B3KV54
62PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin protein ligase activitychromatinprotein bindingR-loop processingdiabetic ketoacidosisspermatoceleasthmalung cancer
✦AI Summary

RAD54L2 is an ATP-dependent DNA/RNA helicase that regulates transcription and genome stability through multiple mechanisms. In transcriptional regulation, RAD54L2 modulates androgen receptor-dependent transactivation by stimulating RNA polymerase II release from paused transcription start sites and unwinding R-loops at these sites 1. The helicase also facilitates double-strand break formation by TOP2B, which appears important for transcriptional output 1. Beyond transcription, RAD54L2 counters topoisomerase 2 (TOP2)-DNA adducts through a novel mechanism involving sumoylated TOP2 recognition and ATPase activity, promoting TOP2 cleavage complex resolution and preventing double-strand break exposure 2. RAD54L2 participates in the TRAF3-DYRK1A-RAD54L2 complex to regulate ACE2 expression, affecting SARS-CoV-2 cellular entry 3. Disease relevance includes cancer associations: RAD54L2 downregulation occurs in renal cell carcinoma, correlating with poor survival outcomes 4; circular RAD54L2 promotes triple-negative breast cancer progression via the miR-888/PDK1 axis 5; and RAD54L2 genetic variants influence lung cancer susceptibility 6. RAD54L2 modulates response to etoposide chemotherapy in pediatric AML 7 and is classified among homologous recombination repair genes affecting PARP inhibitor response in prostate cancer 8.

Sources cited
1
RAD54L2 stimulates RNA polymerase II release and unwinds R-loops at AR target genes; stimulates TOP2B-mediated double-strand break formation
PMID: 39028815
2
RAD54L2 promotes TOP2 cleavage complex resolution through ATPase activity and interaction with sumoylated TOP2
PMID: 38055822
3
RAD54L2 forms a complex with TRAF3 and DYRK1A to maintain ACE2 expression for SARS-CoV-2 infection
PMID: 38651897
4
RAD54L2 is downregulated in renal cell carcinoma and associated with poor survival outcomes
PMID: 37061606
5
CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis
PMID: 36334805
6
RAD54L2 polymorphisms influence lung cancer susceptibility in the Chinese Han population
PMID: 36384536
7
RAD54L2 identified as novel modulator of etoposide response in pediatric AML through CRISPR screening
PMID: 36111891
8
RAD54L2 classified as homologous recombination repair gene affecting PARP inhibitor response in prostate cancer
PMID: 39178368
9
RAD54L2 variants identified to cause defects in top2cc release from double-strand breaks
PMID: 39920830
Disease Associationsⓘ20
diabetic ketoacidosisOpen Targets
0.28Weak
spermatoceleOpen Targets
0.19Weak
asthmaOpen Targets
0.14Weak
lung cancerOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
essential thrombocythemiaOpen Targets
0.04Suggestive
renal cell carcinomaOpen Targets
0.03Suggestive
thrombocythemia 2Open Targets
0.03Suggestive
thrombocythemia 1Open Targets
0.03Suggestive
familial isolated congenital aspleniaOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
multinodular goiterOpen Targets
0.02Suggestive
respiratory system diseaseOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
allergic rhinitisOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene FusionsOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_015106.4(RAD54L2):c.389A>G (p.Gln130Arg)Likely pathogenic
TOP2 deficiency type 1
☆☆☆☆→ Residue 130
View on ClinVar ↗
Related Genes
DYRK1AProtein interaction93%DCAF7Protein interaction93%ARProtein interaction80%NR5A2Protein interaction79%RTF1Shared pathway40%H2BK1Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
81%
Ovary
68%
Lung
65%
Brain
56%
Heart
49%
Gene Interaction Network
Click a node to explore
RAD54L2DYRK1ADCAF7ARNR5A2RTF1H2BK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y4B4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.27Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.14–0.27]
RankingsWhere RAD54L2 stands among ~20K protein-coding genes
  • #7,500of 20,598
    Most Researched62
  • #5,038of 5,498
    Most Pathogenic Variants1
  • #877of 17,882
    Most Constrained (LOEUF)0.27 · top 5%
Genes detectedRAD54L2
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Estrogen associates with female predominance in Xp11.2 translocation renal cell carcinoma.
PMID: 37061606
Sci Rep · 2023
1.00
2
CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis.
PMID: 36334805
Life Sci · 2023
0.90
3
RAD54L2 counters TOP2-DNA adducts to promote genome stability.
PMID: 38055822
Sci Adv · 2023
0.80
4
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.
PMID: 39920830
Genome Med · 2025
0.70
5
DNA-Damaging Therapies in Patients With Prostate Cancer and Pathogenic Alterations in Homologous Recombination Repair Genes.
PMID: 39178368
JCO Precis Oncol · 2024
0.60