FKBP3 Gene (FKBP Prolyl Isomerase 3)
A peptidyl-prolyl cis-trans isomerase involved in immunoregulation and cell cycle control
Gene Information Card
| Symbol | FKBP3 |
|---|---|
| Full Name | FKBP prolyl isomerase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.2 |
| NCBI Gene ID | 2287 ncbi.nlm.nih.gov/gene/2287 |
| Ensembl ID | ENSG00000100442 |
| UniProt ID | Q00688 |
| OMIM ID | 186945 |
| HGNC ID | 3719 |
| Aliases | FKBP-3, FKBP25, PPIase, PPIase FKBP3 |
Description
FKBP3 encodes a member of the FK506-binding protein (FKBP) family, which functions as a peptidyl-prolyl cis-trans isomerase (PPIase). This enzyme catalyzes the interconversion of cis and trans proline residues in proteins, influencing protein folding, trafficking, and signaling. FKBP3 is also an immunophilin that binds the immunosuppressants FK506 and rapamycin. It plays roles in cell cycle regulation, chromatin remodeling, and transcriptional control, and has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression of FKBP3 promotes cell proliferation and inhibits apoptosis via modulation of NF-κB and p53 pathways. | NCBI Gene, PubMed |
| Hepatocellular carcinoma | FKBP3 upregulation correlates with poor prognosis; enhances tumor growth through AKT signaling. | PubMed, COSMIC |
| Colorectal cancer | FKBP3 overexpression linked to chemoresistance and metastasis via Wnt/β-catenin pathway. | PubMed, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Lymph node | 9.8 | Medium |
| Brain | 7.2 | Medium |
| Liver | 6.1 | Medium |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 11.8 | High expression in cervical cancer cells |
| HepG2 | 9.5 | Moderate expression in liver cancer cells |
| K562 | 7.3 | Moderate expression in leukemia cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.314A>G (p.Asn105Ser) | Missense | <0.1% | Unknown functional effect; rare population variant |
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Reported in COSMIC; potential impact on PPIase activity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function role in oncogenesis.
Dominant Negative (DN)
No dominant-negative variants documented.
View complete mutation data:
Gene Ontology (GO)
| • peptidyl-prolyl cis-trans isomerase activity | • FK506 binding |
| • protein folding | • chromatin remodeling |
| • negative regulation of transcription by RNA polymerase II | • cell cycle regulation |
Pathways
• PI3K-Akt signaling pathway
• p53 signaling pathway
• NF-kappa B signaling pathway
• Wnt signaling pathway
Protein Summary
FKBP3 (FKBP25) is a 25 kDa immunophilin with peptidyl-prolyl cis-trans isomerase activity. It contains an N-terminal basic region for DNA binding and a C-terminal PPIase domain. The protein localizes to the nucleus and interacts with histone deacetylases, transcription factors, and components of the nuclear pore complex. FKBP3 modulates chromatin structure and gene expression, and its overexpression in multiple cancer types suggests a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FKBP3 Knockout HEK293 Cell Line | EDJ-KQ4596 | Human | 2287 | Details Get a Quote |
| FKBP3 Knockout A-549 Cell Line | EDJ-KQ27261 | Human | 2287 | Details Get a Quote |
| FKBP3 Knockout HCT 116 Cell Line | EDJ-KQ27262 | Human | 2287 | Details Get a Quote |
| FKBP3 Knockout HeLa Cell Line | EDJ-KQ27263 | Human | 2287 | Details Get a Quote |