HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ERCC6L
ERCC excision repair 6 like, spindle assembly checkpoint helicase
Chromosome X · Xq13.1
NCBI Gene: 54821Ensembl: ENSG00000186871.7HGNC: HGNC:20794UniProt: B5MDQ0
100PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA translocase activityprotein bindingmembraneDNA repairneurodegenerative diseasefrozen shoulderneoplasmcancer
✦AI Summary

ERCC6L is an X-linked DNA helicase functioning as a tension sensor for catenated DNA during mitosis 1. It acts as an ATP-dependent DNA translocase capable of promoting Holliday junction branch migration in vitro 12. During anaphase, ERCC6L marks ultrafine DNA bridges and coordinates with RAD52 to maintain genome stability; depletion of either factor increases DNA bridges and genome instability, particularly under replication stress 3. ERCC6L has emerged as a significant oncogenic driver in multiple cancers. In colorectal cancer, ERCC6L overexpression correlates with tumor size and promotes cell proliferation, cycle progression, and invasion; knockdown inhibits these phenotypes and arrests cells in G0/G1 phase 4. In lung adenocarcinoma, elevated ERCC6L associates with poor prognosis and enhances glycolysis and stemness through HIF-1α stabilization and activation 56. In gastric cancer, ERCC6L facilitates growth and metastasis via NF-κB signaling activation 7. Conversely, ERCC6L2 (a related protein) acts as a tumor suppressor, regulating DNA end resection extent through phase separation-mediated CtIP condensates; downregulation correlates with ATM inhibitor resistance 8. These findings position ERCC6L/ERCC6L2 as potential biomarkers and therapeutic targets.

Sources cited
1
ERCC6L functions as tension sensor, ATP-dependent DNA translocase, and promotes Holliday junction branch migration
PMID: 23973328
2
ERCC6L functions as ATP-dependent DNA translocase
PMID: 28977671
3
ERCC6L marks anaphase ultrafine bridges, compensates with RAD52 for mitotic genome stability
PMID: 39561207
4
ERCC6L overexpression in colorectal cancer promotes proliferation, invasion; knockdown inhibits these phenotypes and causes G0/G1 arrest
PMID: 31289493
5
ERCC6L elevated in lung adenocarcinoma, stabilizes HIF-1α to enhance glycolysis and stemness
PMID: 40691138
6
ERCC6L overexpression correlates with poor prognosis in lung adenocarcinoma and activates cell cycle signaling
PMID: 35656882
7
ERCC6L facilitates gastric cancer growth and metastasis through NF-κB signaling activation
PMID: 34425559
8
ERCC6L2 regulates DNA end resection through phase separation-mediated CtIP condensates; downregulation correlates with ATM inhibitor resistance
PMID: 40913148
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
frozen shoulderOpen Targets
0.32Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
lung adenocarcinomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Burkitts lymphomaOpen Targets
0.07Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.04Suggestive
kidney cancerOpen Targets
0.04Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.04Suggestive
oocyte maturation defect 9Open Targets
0.04Suggestive
oocyte maturation defect 14Open Targets
0.04Suggestive
oocyte maturation defect 5Open Targets
0.04Suggestive
premature ovarian failure 19Open Targets
0.03Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BACH1Shared pathway100%ZNF668Shared pathway100%NCAPGProtein interaction100%TOP3AProtein interaction100%BLMProtein interaction98%RMI1Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Ovary
7%
Lung
5%
Heart
4%
Liver
4%
Gene Interaction Network
Click a node to explore
ERCC6LBACH1ZNF668NCAPGTOP3ABLMRMI1
PROTEIN STRUCTURE
Preparing viewer…
PDB5JNO · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.69Intermediate
Observed/Expected LoF0.35 [0.20–0.65]
RankingsWhere ERCC6L stands among ~20K protein-coding genes
  • #4,777of 20,598
    Most Researched100 · top quartile
  • #4,755of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedERCC6L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Degradation-Based Protein Profiling: A Case Study of Celastrol.
PMID: 38664976
Adv Sci (Weinh) · 2024
1.00
2
RAD52 and ERCC6L/PICH have a compensatory relationship for genome stability in mitosis.
PMID: 39561207
PLoS Genet · 2024
0.90
3
ERCC6L promotes cell growth and invasion in human colorectal cancer.
PMID: 31289493
Oncol Lett · 2019
0.80
4
Molecular cloning and gene expression analysis of Ercc6l in Sika deer (Cervus nippon hortulorum).
PMID: 21695076
PLoS One · 2011
0.70
5
ERCC6L-mediated stabilization of HIF-1α enhances glycolysis and stemness properties of lung adenocarcinoma cells.
PMID: 40691138
Cell Death Dis · 2025
0.60