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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PDS5B
PDS5 cohesin associated factor B
Chromosome 13 · 13q13.1
NCBI Gene: 23047Ensembl: ENSG00000083642.20HGNC: HGNC:20418UniProt: Q9NTI5
131PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell population proliferationDNA bindingprotein bindingmitotic sister chromatid cohesionneurodegenerative diseasesmoking initiationobesitycervical carcinoma
✦AI Summary

PDS5B is a cohesin-associated regulatory protein that plays critical roles in chromosome 13 and genome stability. The protein functions as a key regulator of sister chr13 cohesion, acting as an integral component of the cohesin ring complex by contacting all other cohesin subunits including Smc1, Smc3, Scc1, and SA1 1. PDS5B controls chr13 loop formation and topologically associating domain (TAD) organization by regulating cohesin-mediated loop extrusion, working alongside WAPL to control loop length until cohesin encounters CTCF boundary elements 2. The protein undergoes phosphorylation-dependent regulation during mitosis, where Nek2a and Cdk1/2-cyclin A2 phosphorylate PDS5B to convert it from a sororin-interactor to a WAPL-interactor, enabling Wapl-dependent cohesin removal from chromosome 13 3. PDS5B also functions in DNA repair pathways, interacting with the human Shu complex and SPIDR to promote homologous recombination and regulate RAD51 recruitment to DNA repair foci 4. Additionally, PDS5B serves as a substrate for DDK (Dbf4-dependent kinase), which phosphorylates the protein to facilitate fork protection and restart during DNA replication stress 5. The gene is essential for embryonic development, as demonstrated by embryonic lethality in homozygous knockout mice 6. Clinically, PDS5B mutations are associated with myeloid malignancies including myelodysplastic neoplasm and acute myeloid leukemia 7.

Sources cited
1
PDS5B forms integral part of cohesin ring by contacting all other cohesin subunits
PMID: 27549742
2
PDS5B controls chromatin loop length and TAD organization through cohesin regulation
PMID: 29217591
3
PDS5B undergoes phosphorylation by Nek2a and Cdk1/2-cyclin A2 to enable Wapl-dependent cohesin removal
PMID: 39271794
4
PDS5B interacts with Shu complex and SPIDR in DNA repair and RAD51 regulation
PMID: 31665741
5
PDS5B is a DDK substrate involved in fork protection and restart
PMID: 33545059
6
PDS5B is essential for embryonic development
PMID: 26334628
7
PDS5B mutations are associated with myeloid malignancies
PMID: 39033241
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
smoking initiationOpen Targets
0.33Weak
obesityOpen Targets
0.32Weak
cervical carcinomaOpen Targets
0.31Weak
contractureOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.29Weak
lung carcinomaOpen Targets
0.26Weak
frozen shoulderOpen Targets
0.26Weak
HepatitisOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
coronary artery diseaseOpen Targets
0.18Weak
hepatocellular carcinomaOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
Cornelia de Lange syndromeOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAD51Protein interaction100%SMC1BProtein interaction100%RAD21Protein interaction100%SMC1AProtein interaction100%SMC3Protein interaction100%REC8Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
73%
Ovary
36%
Lung
32%
Heart
25%
Liver
19%
Gene Interaction Network
Click a node to explore
PDS5BRAD51SMC1BRAD21SMC1ASMC3REC8
PROTEIN STRUCTURE
Preparing viewer…
PDB5HDT · 2.71 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.33 [0.23–0.50]
RankingsWhere PDS5B stands among ~20K protein-coding genes
  • #3,572of 20,598
    Most Researched131 · top quartile
  • #2,972of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedPDS5B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PDS5A and PDS5B in Cohesin Function and Human Disease.
PMID: 34070827
Int J Mol Sci · 2021
1.00
2
Topologically associating domains and chromatin loops depend on cohesin and are regulated by CTCF, WAPL, and PDS5 proteins.
PMID: 29217591
EMBO J · 2017
0.90
3
The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.
PMID: 31665741
Nucleic Acids Res · 2019
0.80
4
Topology and structure of an engineered human cohesin complex bound to Pds5B.
PMID: 27549742
Nat Commun · 2016
0.70
5
Human DDK rescues stalled forks and counteracts checkpoint inhibition at unfired origins to complete DNA replication.
PMID: 33545059
Mol Cell · 2021
0.60