PDS5B
PDS5 cohesin associated factor B
Gene Information Card
| Symbol | PDS5B |
|---|---|
| Full Name | PDS5 cohesin associated factor B |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 23047 ncbi.nlm.nih.gov/gene/23047 |
| Ensembl ID | ENSG00000121879 |
| UniProt ID | Q9NTI5 |
| OMIM ID | 609199 |
| HGNC ID | 28995 |
| Aliases | AS3, APRIN, PDS5, SCC-112, KIAA0979 |
Description
PDS5B encodes a protein that is a component of the cohesin complex, which is essential for sister chromatid cohesion during mitosis and meiosis. The protein also plays roles in DNA repair, gene expression regulation, and chromatin organization. Mutations in PDS5B are associated with developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cornelia de Lange syndrome-like phenotype | Disruption of cohesin complex function leads to altered gene expression and developmental abnormalities. | ClinVar |
| Colorectal cancer | Altered expression and mutations in PDS5B may contribute to tumorigenesis through genomic instability. | COSMIC |
| Breast cancer | PDS5B overexpression or mutation may affect cell proliferation and cohesion. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.3 | Medium |
| Brain | 8.1 | Medium |
| Liver | 6.7 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 12.8 | Leukemia cell line |
| HepG2 | 9.4 | Liver cancer cell line |
| A549 | 8.1 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with developmental delay |
| c.5678A>G (p.Gln1893Arg) | Missense | 0.2% | Unknown; reported in colorectal cancer |
| c.2345_2346insA | Frameshift | <0.1% | Loss of function; reported in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing cohesin function.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions.
Dominant Negative (DN)
Potential for missense mutations to disrupt cohesin complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • sister chromatid cohesion | • chromatin binding |
| • DNA repair | • mitotic cell cycle |
| • nucleus |
Pathways
• Cohesin complex pathway
• Cell cycle - mitosis
• DNA damage response
Protein Summary
The PDS5B protein is a 1447-amino acid nuclear protein that interacts with other cohesin subunits (SMC1A, SMC3, RAD21) to regulate sister chromatid cohesion. It also participates in DNA double-strand break repair and transcriptional regulation through chromatin looping.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDS5B Knockout HEK293 Cell Line | EDJ-KQ7793 | Human | 23047 | Details Get a Quote |
| PDS5B Knockout A-549 Cell Line | EDJ-KQ33289 | Human | 23047 | Details Get a Quote |
| PDS5B Knockout HCT 116 Cell Line | EDJ-KQ33290 | Human | 23047 | Details Get a Quote |
| PDS5B Knockout HeLa Cell Line | EDJ-KQ33291 | Human | 23047 | Details Get a Quote |
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