FKBP15: FKBP Prolyl Isomerase 15
A comprehensive gene card for FKBP15, including genomic annotation, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | FKBP15 |
|---|---|
| Full Name | FKBP prolyl isomerase 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.2 |
| NCBI Gene ID | 23307 ncbi.nlm.nih.gov/gene/23307 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 611639 |
| HGNC ID | 18625 |
| Aliases | FKBP15, FKBP-15, KIAA0674, ppiase |
Description
FKBP15 (FKBP prolyl isomerase 15) encodes a member of the FK506-binding protein (FKBP) family, which possesses peptidyl-prolyl cis-trans isomerase activity. The protein is involved in protein folding, trafficking, and may play a role in neuronal development and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.4 | Moderate expression |
| HeLa | 7.2 | Low expression |
| K562 | 5.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants listed in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data:
Gene Ontology (GO)
| • GO:0003755 - peptidyl-prolyl cis-trans isomerase activity | • GO:0006457 - protein folding |
| • GO:0005737 - cytoplasm |
Pathways
• No specific pathway annotations in Reactome or KEGG
Protein Summary
FKBP15 is a 135 kDa protein containing an FKBP-type peptidyl-prolyl cis-trans isomerase domain. It is localized to the cytoplasm and may participate in protein folding and cellular trafficking. Its precise biological functions remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FKBP15 Knockout HEK293 Cell Line | EDJ-KQ7954 | Human | 23307 | Details Get a Quote |
| FKBP15 Knockout A-549 Cell Line | EDJ-KQ33631 | Human | 23307 | Details Get a Quote |
| FKBP15 Knockout HCT 116 Cell Line | EDJ-KQ33632 | Human | 23307 | Details Get a Quote |
| FKBP15 Knockout HeLa Cell Line | EDJ-KQ33633 | Human | 23307 | Details Get a Quote |
| FKBP15 Knockout HAP1 Cell Line | EDC09400 | Human | 23307 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records