PFDN6
Prefoldin Subunit 6: A Chaperone Involved in Protein Folding and Assembly
Gene Information Card
| Symbol | PFDN6 |
|---|---|
| Full Name | Prefoldin Subunit 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 10471 ncbi.nlm.nih.gov/gene/10471 |
| Ensembl ID | ENSG00000124562 |
| UniProt ID | O15212 |
| OMIM ID | 604080 |
| HGNC ID | 8871 |
| Aliases | H2-KE2, KE2, PFD6 |
Description
PFDN6 encodes a subunit of the prefoldin complex, a molecular chaperone that binds and stabilizes newly synthesized polypeptides, facilitating their transfer to the cytosolic chaperonin TRiC/CCT for proper folding. The prefoldin complex is essential for the biogenesis of actin and tubulin, and PFDN6 is specifically involved in the assembly of the complex. The gene is located in the major histocompatibility complex (MHC) class II region on chromosome 6, suggesting potential roles in immune system function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.9 | Medium |
| Brain | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 12.1 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional effect |
| c.100C>T | Synonymous | Rare | No effect on protein sequence |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein folding | • chaperone cofactor-dependent protein refolding |
| • cytosol | • prefoldin complex |
| • tubulin binding | • actin binding |
Pathways
• Prefoldin mediated transfer of substrate to CCT/TriC
• Folding of actin by CCT/TriC
• Folding of tubulin by CCT/TriC
Protein Summary
Prefoldin subunit 6 is a 14.5 kDa protein that forms part of the heterohexameric prefoldin complex. It contains a coiled-coil domain and interacts with other prefoldin subunits to capture unfolded polypeptides. The protein is localized in the cytosol and is highly expressed in tissues with active cytoskeletal remodeling, such as testis and lymphoid organs.
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