FKBP6 Gene: FKBP Prolyl Isomerase Family Member 6
A peptidyl-prolyl cis-trans isomerase involved in meiosis and spermatogenesis, linked to male infertility and Williams-Beuren syndrome.
Gene Information Card
| Symbol | FKBP6 |
|---|---|
| Full Name | FKBP prolyl isomerase family member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 8468 ncbi.nlm.nih.gov/gene/8468 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | O75344 |
| OMIM ID | 604839 |
| HGNC ID | 3722 |
| Aliases | FKBP36, PPIase, FKBP-6, FKBP6_HUMAN |
Description
The FKBP6 gene encodes a member of the FK506-binding protein (FKBP) family, which possesses peptidyl-prolyl cis-trans isomerase (PPIase) activity. This protein is essential for homologous chromosome pairing during meiosis and is required for normal spermatogenesis. FKBP6 is located within the Williams-Beuren syndrome (WBS) critical region on chromosome 7q11.23, and its deletion or mutation is associated with male infertility and WBS phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss of FKBP6 disrupts meiotic homologous pairing, leading to spermatogenic arrest. | ClinVar, OMIM #604839 |
| Williams-Beuren syndrome | Hemizygous deletion of the WBS critical region including FKBP7 (FKBP6) contributes to the multisystem developmental disorder. | OMIM #194050, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 4.2 | Low |
| Prostate | 3.1 | Low |
| Ovary | 2.8 | Low |
| Brain (cerebellum) | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | Embryonic kidney cells |
| HeLa | 5.3 | Cervical adenocarcinoma |
| K562 | 2.1 | Chronic myelogenous leukemia |
| HepG2 | 1.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.343C>T (p.Arg115Ter) | Nonsense | Rare | Premature truncation; loss of PPIase domain; associated with azoospermia |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; likely null allele |
| c.572_573del (p.Glu191GlyfsTer5) | Frameshift | Rare | Frameshift leading to early termination; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations in FKBP6 result in truncated or absent protein, impairing meiotic homologous pairing and causing spermatogenic failure.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FKBP6.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for FKBP6.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Meiotic recombination
• Protein folding (PPIase cycle)
Protein Summary
FKBP6 is a 36 kDa protein belonging to the FKBP family, characterized by a single FKBP-type peptidyl-prolyl cis-trans isomerase domain. It catalyzes the interconversion of cis and trans proline residues, facilitating protein folding. In the testis, FKBP6 localizes to the synaptonemal complex and is critical for homologous chromosome synapsis during meiosis I. Its absence leads to meiotic arrest and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FKBP6 Knockout HEK293 Cell Line | EDJ-KQ6249 | Human | 8468 | Details Get a Quote |
| FKBP6 Knockout HeLa Cell Line | EDJ-KQ54913 | Human | 8468 | Details Get a Quote |
| FKBP6 Knockout A-549 Cell Line | EDJ-KQ63399 | Human | 8468 | Details Get a Quote |
| FKBP6 Knockout HCT 116 Cell Line | EDJ-KQ71866 | Human | 8468 | Details Get a Quote |
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