HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WAPL
WAPL cohesin release factor
Chromosome 10 · 10q23.2
NCBI Gene: 23063Ensembl: ENSG00000062650.21HGNC: HGNC:23293UniProt: A8K273
131PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein localization to chromatinprotein bindingATP-dependent protein-DNA unloader activitynucleuspoisoningulcerative colitisatrial fibrillationmathematical ability
✦AI Summary

WAPL (WAPL cohesin release factor) is a critical regulator of chromosome 10 and gene expression that controls cohesin dynamics on chr10. WAPL functions as a cohesin release factor, negatively regulating cohesin's association with chr10 through two distinct structural modules containing FGF and YNARHWN motifs that simultaneously bind the Scc1-SA2 interface of cohesin 1. This release activity is essential for proper chromosome 10 during mitosis, as complete loss of WAPL-cohesin interaction leads to erroneous chromosome 10 1. WAPL plays a crucial role in 3D genome organization by restricting chr10 loop extension and controlling topologically associating domain (TAD) formation. In the absence of WAPL, cohesin forms extended loops by passing CTCF sites, leading to chromosome 10 2. WAPL also prevents inappropriate looping between incorrectly oriented CTCF sites 3. The protein is involved in gene expression regulation, with WAPL depletion altering expression of approximately 2,000 genes in human cells 4. Additionally, WAPL influences chr10-nuclear speckle association, with its depletion reinforcing DNA-speckle contacts and enhancing gene inducibility 5. Clinical relevance includes involvement in cohesinopathies, including potential connections to Cornelia de Lange syndrome 5.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
poisoningOpen Targets
0.28Weak
ulcerative colitisOpen Targets
0.27Weak
atrial fibrillationOpen Targets
0.24Weak
mathematical abilityOpen Targets
0.20Weak
hypertensionOpen Targets
0.19Weak
alcohol drinkingOpen Targets
0.17Weak
Abnormal pinna morphologyOpen Targets
0.12Weak
Abnormality of the outer earOpen Targets
0.12Weak
clubfootOpen Targets
0.12Weak
Large for gestational ageOpen Targets
0.12Weak
Macrocephaly at birthOpen Targets
0.12Weak
PolyhydramniosOpen Targets
0.12Weak
Talipes equinovarusOpen Targets
0.12Weak
ventricular septal defectOpen Targets
0.12Weak
Abnormality of limbsOpen Targets
0.06Suggestive
cervical cancerOpen Targets
0.05Suggestive
preeclampsiaOpen Targets
0.05Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.04Suggestive
joint diseaseOpen Targets
0.03Suggestive
brain aneurysmOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PDS5AProtein interaction100%DSCC1Protein interaction100%RFC3Protein interaction100%CHTF8Protein interaction100%SMC1AProtein interaction100%SMC3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
95%
Lung
69%
Heart
65%
Liver
62%
Ovary
49%
Gene Interaction Network
Click a node to explore
WAPLPDS5ADSCC1RFC3CHTF8SMC1ASMC3
PROTEIN STRUCTURE
Preparing viewer…
PDB4K6J · 2.62 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.08Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.04 [0.02–0.08]
RankingsWhere WAPL stands among ~20K protein-coding genes
  • #3,580of 20,598
    Most Researched131 · top quartile
  • #27of 17,882
    Most Constrained (LOEUF)0.08 · top 1%
Genes detectedWAPL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The structural basis for cohesin-CTCF-anchored loops.
PMID: 31905366
Nature · 2020
1.00
2
The expanding phenotypes of cohesinopathies: one ring to rule them all!
PMID: 31516082
Cell Cycle · 2019
0.90
3
Topologically associating domains and chromatin loops depend on cohesin and are regulated by CTCF, WAPL, and PDS5 proteins.
PMID: 29217591
EMBO J · 2017
0.80
4
Molecular mechanism and functional significance of Wapl interaction with the Cohesin complex.
PMID: 39110738
Proc Natl Acad Sci U S A · 2024
0.70
5
Structural basis of centromeric cohesion protection.
PMID: 37081319
Nat Struct Mol Biol · 2023
0.60