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.

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 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
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