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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FKBP6
FKBP prolyl isomerase family member 6 (inactive)
Chromosome 7 Β· 7q11.23
NCBI Gene: 8468Ensembl: ENSG00000077800.13HGNC: HGNC:3722UniProt: O75344
38PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingprotein bindingcytosolpositive regulation of viral genome replicationspermatogenic failure 77male infertilityneurodegenerative diseasegenetic disorder
✦AI Summary

FKBP6 (FKBP prolyl isomerase family member 6) is essential for male spermatogenesis and fertility. The protein functions as a co-chaperone that associates with HSP90 via its tetratricopeptide repeat (TPR) domain and plays a critical role in the piRNA (PIWI-interacting RNA) pathway 1. FKBP6 is required for piRNA biogenesis and amplification, delivering piRNAs to PIWI proteins like MIWI2 for transposable element silencing 1. Loss of FKBP6 function leads to derepression of LINE1 retrotransposons and reduced DNA methylation due to deficient nuclear accumulation of MIWI2 1. In humans, bi-allelic loss-of-function variants in FKBP6 cause severe spermatogenic failure, with affected individuals showing arrest at the round spermatid stage and producing no or extremely few sperm 2. Unlike mouse models, human FKBP6 deficiency severely impacts piRNA levels but does not increase LINE-1 expression 2. FKBP6 is also exploited by hepatitis C virus for replication, where it interacts with viral NS5A protein and forms complexes with other FKBP proteins 3. The gene is deleted in Williams-Beuren syndrome, though haploinsufficiency appears compatible with male fertility 4.

Sources cited
1
FKBP6 functions as co-chaperone with HSP90, delivers piRNAs to MIWI2, and is required for transposable element silencing
PMID: 22902560
2
Bi-allelic loss-of-function variants cause severe spermatogenic failure in humans with round spermatid arrest
PMID: 36150389
3
FKBP6 interacts with HCV NS5A protein and is required for viral replication
PMID: 26567527
4
FKBP6 is deleted in Williams-Beuren syndrome but haploinsufficiency doesn't preclude male fertility
PMID: 15770126
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
spermatogenic failure 77Open Targets
0.50Moderate
male infertilityOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
spermatogenic failure 62Open Targets
0.06Suggestive
spermatogenic failure 88Open Targets
0.06Suggestive
spermatogenic failure 59Open Targets
0.06Suggestive
spermatogenic failure 60Open Targets
0.06Suggestive
spermatogenic failure 73Open Targets
0.06Suggestive
spermatogenic failure 74Open Targets
0.06Suggestive
spermatogenic failure 48Open Targets
0.06Suggestive
Spermatogenic failure 77UniProt
Pathogenic Variants5
NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter)Likely pathogenic
Spermatogenic failure 77|Male infertility
β˜…β˜†β˜†β˜†2022β†’ Residue 204
NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter)Likely pathogenic
Spermatogenic failure 77|Male infertility
β˜…β˜†β˜†β˜†2022β†’ Residue 278
NM_003602.5(FKBP6):c.469-2A>TLikely pathogenic
Spermatogenic failure 77|Male infertility
β˜…β˜†β˜†β˜†2022
NM_003602.5(FKBP6):c.589-2A>GPathogenic
Spermatogenic failure 77|Male infertility
β˜…β˜†β˜†β˜†2022
NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)Pathogenic
Male infertility|Spermatogenic failure 77
β˜…β˜†β˜†β˜†2022β†’ Residue 177
View on ClinVar β†—
Related Genes
HSP90AA1Protein interaction98%ASZ1Protein interaction92%GTF2IRD1Protein interaction91%TBL2Protein interaction84%PPIL4Protein interaction84%CDK5RAP3Protein interaction83%
Tissue Expression6 tissues
Ovary
100%
Liver
88%
Lung
50%
Brain
16%
Bone Marrow
6%
Heart
0%
Gene Interaction Network
Click a node to explore
FKBP6HSP90AA1ASZ1GTF2IRD1TBL2PPIL4CDK5RAP3
PROTEIN STRUCTURE
Preparing viewer…
PDB3B7X Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.53–1.07]
RankingsWhere FKBP6 stands among ~20K protein-coding genes
  • #10,479of 20,598
    Most Researched38
  • #3,603of 5,498
    Most Pathogenic Variants5
  • #10,774of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedFKBP6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men.
PMID: 17307919
Reproduction Β· 2007
1.00
2
A novel human gene FKBP6 is deleted in Williams syndrome.
PMID: 9782077
Genomics Β· 1998
0.90
3
Involvement of FKBP6 in hepatitis C virus replication.
PMID: 26567527
Sci Rep Β· 2015
0.80
4
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.
PMID: 37459509
Proc Natl Acad Sci U S A Β· 2023
0.70
5
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
PMID: 36150389
Am J Hum Genet Β· 2022
0.60