Gene
FKBP10
FKBP prolyl isomerase 10
- HGNC 18169↗(opens in a new tab)
- Ensembl gene ENSG00000141756↗(opens in a new tab)
- NCBI Gene 60681↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.2
- Coordinates
- Chromosome 17: 41,813,004–41,823,213 (GRCh38)
- Exons
- 10 exons across 10.2 kb
- Protein
- 582 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- hFKBP65, FKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833
- MANE Select transcript
- ENST00000321562.9NM_021939.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Osteogenesis Imperfecta
- Bruck syndrome 1Autosomal recessive
A form of osteogenesis imperfecta caused by FKBP10 variants, combining bone fragility and fractures with joint contractures present from birth.
- 2 GenCC submitters rate it definitive or strong
A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How FKBP10 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.6 kb of the gene's 10.2 kb; 1,749 of those bases code for the protein.
How a genome test reads FKBP10
47
positions in FKBP10 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10.2 kb of FKBP10, introns included, not only the 2.6 kb of exons.
Genes linked to the same conditions
- ANO5anoctamin 5Shares 1 condition
- ATP6V0A2ATPase H+ transporting V0 subunit a2Shares 1 condition
- BMP1bone morphogenetic protein 1Shares 1 condition
- COL1A1collagen type I alpha 1 chainShares 1 condition
- COL1A2collagen type I alpha 2 chainShares 1 condition
- CREB3L1cAMP responsive element binding protein 3 like 1Shares 1 condition
- CRTAPcartilage associated proteinShares 1 condition
- GORABgolgin, RAB6 interactingShares 1 condition
- IFIH1interferon induced with helicase C domain 1Shares 1 condition
- IFITM5interferon induced transmembrane protein 5Shares 1 condition
- KDELR2KDEL endoplasmic reticulum protein retention receptor 2Shares 1 condition
- KIF5Bkinesin family member 5BShares 1 condition
Traits linked to FKBP10
The Human Phenotype Ontology lists these as features of the rare conditions FKBP10 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FKBP10 gene: FKBP prolyl isomerase 10. Retrieved 17 October 2026, from https://dantelabs.com/genes/fkbp10
Dante Labs. FKBP10 gene: FKBP prolyl isomerase 10 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fkbp10
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