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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RAD54L
RAD54 like
Chromosome 1 Β· 1p34.1
NCBI Gene: 8438Ensembl: ENSG00000085999.14HGNC: HGNC:9826UniProt: A8K996
69PubMed Papers
20Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP-dependent activity, acting on DNAATP-dependent DNA/DNA annealing activitydouble-strand break repair via homologous recombinationprotein-containing complexprimary ovarian insufficiencynon-Hodgkins lymphomacolorectal adenocarcinomaarthritis
✦AI Summary

RAD54L is a multifunctional ATPase that functions as a molecular motor in homologous recombination (HR), a major DNA double-strand break repair pathway 123. The protein guides RAD51 ssDNA along donor dsDNA, converting homology search from a diffusion-based to a motor-guided mechanism 1. RAD54L plays essential roles in RAD51-mediated synaptic complex formation and dissociates RAD51 from nucleoprotein filaments post-recombination 1. Additionally, RAD54L functions in replication fork remodeling, restraining fork progression under replication stress and suppressing ssDNA gap formation through both BRCA1/2- and 53BP1-dependent pathways 4. RAD54L expression is significantly elevated in multiple cancers including hepatocellular carcinoma, ovarian cancer, bladder cancer, and multiple myeloma, correlating with poor prognosis and aggressive phenotypes 5678. RAD54L knockdown inhibits cancer cell proliferation and enhances gemcitabine sensitivity in hepatocellular carcinoma 5. In multiple myeloma, RAD54L silencing induces cell cycle arrest and apoptosis 8. RAD54L genetic variants associate with meningioma development and histopathological characteristics 910. These findings identify RAD54L as a potential therapeutic target and prognostic biomarker across multiple malignancies.

Sources cited
1
RAD54L is a multifunctional ATPase playing a role in homologous recombination repair of DNA double-strand breaks and functions as a molecular motor guiding RAD51
PMID: 11459989
2
RAD54L participates in homologous recombination repair of DNA double-strand breaks
PMID: 12205100
3
RAD54L is involved in homologous recombination repair
PMID: 24798879
4
RAD54L functions in replication fork remodeling, restrains fork progression under replication stress, and operates in both BRCA1/2- and FBH1-dependent RAD51-mediated fork reversal pathways
PMID: 39315725
5
RAD54L is significantly upregulated in hepatocellular carcinoma, correlates with poor prognosis, and knockdown increases gemcitabine sensitivity
PMID: 40616532
6
RAD54L is transcriptionally regulated by E2F1 in ovarian cancer and contributes to cancer progression
PMID: 38424195
7
High RAD54L expression promotes bladder cancer progression through cell cycle alterations and is associated with poor prognosis
PMID: 36071250
8
RAD54L is upregulated in multiple myeloma, and its silencing induces growth inhibition, apoptosis, and G0/G1 cell cycle arrest
PMID: 35689754
9
RAD54L gene variants associate with meningioma histopathological characteristics including WHO tumor grades and Ki67 proliferation index
PMID: 34169999
10
RAD54L 2290C/T polymorphism is associated with meningioma development and can serve as a genetic marker in the 1p32 deletion region
PMID: 12614485
Disease Associationsβ“˜20
primary ovarian insufficiencyOpen Targets
0.44Moderate
non-Hodgkins lymphomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.34Weak
arthritisOpen Targets
0.34Weak
Hereditary breast cancerOpen Targets
0.33Weak
hereditary breast carcinomaOpen Targets
0.33Weak
colon adenocarcinomaOpen Targets
0.33Weak
breast ductal adenocarcinomaOpen Targets
0.33Weak
genetic disorderOpen Targets
0.33Weak
lymphoma, non-Hodgkin, familialOpen Targets
0.27Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.18Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.18Weak
autosomal dominant hypophosphatemic ricketsOpen Targets
0.12Weak
hereditary diffuse gastric adenocarcinomaOpen Targets
0.12Weak
X-linked corneal dermoidOpen Targets
0.10Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.09Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.09Suggestive
Lisch epithelial corneal dystrophyOpen Targets
0.09Suggestive
Pathogenic Variants9
NM_003579.4(RAD54L):c.1624C>T (p.Arg542Cys)Likely pathogenic
Inborn genetic diseases|Polymorphous low grade neuroepithelial tumor of the young
β˜…β˜…β˜†β˜†2013β†’ Residue 542
NM_003579.4(RAD54L):c.267T>G (p.Tyr89Ter)Likely pathogenic
Lymphoma, non-Hodgkin, familial
β˜…β˜†β˜†β˜†2024β†’ Residue 89
NM_003579.4(RAD54L):c.1298del (p.Pro433fs)Likely pathogenic
Familial cancer of breast
β˜…β˜†β˜†β˜†2023β†’ Residue 433
NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala)Likely pathogenic
Premature ovarian failure
β˜…β˜†β˜†β˜†2020β†’ Residue 628
NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys)Likely pathogenic
Premature ovarian failure
β˜…β˜†β˜†β˜†2020β†’ Residue 634
NM_003579.4(RAD54L):c.1033G>T (p.Gly345Cys)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2012β†’ Residue 345
NM_003579.4(RAD54L):c.188C>A (p.Pro63His)Pathogenic
Colon adenocarcinoma
β˜†β˜†β˜†β˜†1999β†’ Residue 63
NM_003579.4(RAD54L):c.1331T>A (p.Val444Glu)Pathogenic
Non-Hodgkin lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 444
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)Pathogenic
Breast ductal adenocarcinoma
β˜†β˜†β˜†β˜†1999β†’ Residue 325
View on ClinVar β†—
Related Genes
MRE11Protein interaction100%FANCIProtein interaction100%CDCA8Protein interaction99%ATMProtein interaction95%CHEK2Protein interaction94%VAC14Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
47%
Lung
6%
Ovary
3%
Heart
3%
Liver
2%
Gene Interaction Network
Click a node to explore
RAD54LMRE11FANCICDCA8ATMCHEK2VAC14
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q92698
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.64–0.94]
RankingsWhere RAD54L stands among ~20K protein-coding genes
  • #6,833of 20,598
    Most Researched69
  • #2,954of 5,498
    Most Pathogenic Variants9
  • #8,741of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedRAD54L
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Treatment patterns and outcomes in metastatic castration-resistant prostate cancer patients with and without somatic or germline alterations in homologous recombination repair genes.
PMID: 38417742
Ann Oncol Β· 2024
1.00
2
Gene expression profiling and in vitro functional studies reveal RAD54L as a potential therapeutic target in multiple myeloma.
PMID: 35689754
Genes Genomics Β· 2022
0.90
3
Disparate requirements for RAD54L in replication fork reversal.
PMID: 39315725
Nucleic Acids Res Β· 2024
0.80
4
Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological Characteristics on Turkish Cohort.
PMID: 34169999
Turk Neurosurg Β· 2021
0.70
5
RNA m
PMID: 38424195
Exp Mol Med Β· 2024
0.60