PFDN2
Prefoldin Subunit 2: A Molecular Chaperone Involved in Protein Folding and Cytoskeletal Dynamics
Gene Information Card
| Symbol | PFDN2 |
|---|---|
| Full Name | Prefoldin Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 5202 ncbi.nlm.nih.gov/gene/5202 |
| Ensembl ID | ENSG00000143256 |
| UniProt ID | Q9UHV9 |
| OMIM ID | 608892 |
| HGNC ID | 8867 |
| Aliases | PFD2, prefoldin 2 |
Description
PFDN2 encodes prefoldin subunit 2, a component of the heterohexameric prefoldin complex. This molecular chaperone binds and stabilizes nascent polypeptides, facilitating their transfer to the cytosolic chaperonin TRiC/CCT for proper folding. PFDN2 is essential for the biogenesis of actin and tubulin, thereby regulating cytoskeletal dynamics and cell division.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and hypotonia | Loss-of-function mutations in PFDN2 impair prefoldin complex assembly, leading to defective tubulin folding and neuronal migration deficits. | ClinVar; PMID: 31036916 |
| Cancer (various) | Altered PFDN2 expression affects cell proliferation and migration via dysregulated cytoskeletal remodeling. | COSMIC; PMID: 28481328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | High |
| Heart | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 14.1 | Medium |
| Testis | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.1 | High expression |
| HeLa | 19.4 | High expression |
| K562 | 16.7 | Medium expression |
| MCF7 | 14.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.319C>T (p.Arg107*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Impaired prefoldin complex formation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg107*) lead to truncated protein and loss of chaperone activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants (e.g., p.Arg153Gln) may disrupt complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • unfolded protein binding (GO:0051082) |
| • tubulin complex assembly (GO:0007021) | • protein targeting to membrane (GO:0043621) |
| • cytoplasm (GO:0005737) |
Pathways
• Prefoldin-mediated transfer of substrate to CCT/TriC (Reactome R-HSA-389957)
• Cooperation of prefoldin and TriC/CCT in actin and tubulin folding (Reactome R-HSA-389958)
Protein Summary
Prefoldin subunit 2 is a 17 kDa protein that forms part of the prefoldin heterohexamer (subunits α, β, γ, δ, ε, ζ). It contains a coiled-coil domain that mediates subunit interactions and substrate binding. PFDN2 is ubiquitously expressed and localizes to the cytoplasm. Its chaperone activity is critical for the proper folding of cytoskeletal proteins, particularly actin and tubulin.
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