FKBP10 Chromosome 17
FKBP prolyl isomerase 10
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What This Gene Does
The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"EF-hand domain containing|FKBP prolyl isomerase family"
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000141756
Associated Conditions (14)
Osteogenesis imperfecta
FKBP10-related disorder
Osteogenesis imperfecta type 11
Bruck syndrome 1
Inborn genetic diseases
Acute myeloid leukemia
Adrenocortical carcinoma
hereditary
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Osteogenesis imperfecta type III
Osteogenesis imperfecta type 12
Abnormality of the skeletal system
Bruck syndrome
Key Variants
RS116142981
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, FKBP10-related disorder, Osteogenesis imperfecta
Health Risk
RS117897485
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
Health Risk
RS1206061120
Conflicting classifications of pathogenicity
Bruck syndrome 1, FKBP10-related disorder, Bruck syndrome 1
Health Risk
RS138089753
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, FKBP10-related disorder, Inborn genetic diseases
Health Risk
RS140027863
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 11, Osteogenesis imperfecta, FKBP10-related disorder
Health Risk
RS140950528
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 11, Bruck syndrome 1, Inborn genetic diseases
Health Risk
RS141387386
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 11, FKBP10-related disorder, Osteogenesis imperfecta type 11
Health Risk
RS143450797
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 11, Osteogenesis imperfecta, Osteogenesis imperfecta type 11
Health Risk
RS146422412
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, FKBP10-related disorder, Osteogenesis imperfecta
Health Risk
RS146701946
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 11, FKBP10-related disorder, Osteogenesis imperfecta type 11
Health Risk
RS150052125
Conflicting classifications of pathogenicity
Health Risk
RS199576301
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544446785 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11 |
| RS373404630 | Health Risk | Likely pathogenic | — |
| RS797044559 | Health Risk | Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS1156397632 | Health Risk | Pathogenic | — |
| RS1227407669 | Health Risk | Pathogenic | — |
| RS1302398047 | Health Risk | Pathogenic | — |
| RS137853882 | Health Risk | Pathogenic | Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12 |
| RS137853883 | Health Risk | Pathogenic | Osteogenesis imperfecta type 12, Bruck syndrome 1, Osteogenesis imperfecta type 11 |
| RS137853884 | Health Risk | Pathogenic | Bruck syndrome 1, FKBP10-related disorder, Bruck syndrome 1 |
| RS141847881 | Health Risk | Pathogenic | Bruck syndrome, Bruck syndrome |
| RS1476831557 | Health Risk | Pathogenic | — |
| RS150072133 | Health Risk | Pathogenic | — |
| RS1555616552 | Health Risk | Pathogenic | Bruck syndrome 1, Osteogenesis imperfecta, Osteogenesis imperfecta type 11 |
| RS1555616989 | Health Risk | Pathogenic | — |
| RS2047770566 | Health Risk | Pathogenic | — |
| RS2047770974 | Health Risk | Pathogenic | — |
| RS2047894013 | Health Risk | Pathogenic | — |
| RS2144041488 | Health Risk | Pathogenic | Bruck syndrome 1, Bruck syndrome 1 |
| RS2544421308 | Health Risk | Pathogenic | — |
| RS2544422008 | Health Risk | Pathogenic | Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12 |
| RS2544433461 | Health Risk | Pathogenic | — |
| RS2544436900 | Health Risk | Pathogenic | — |
| RS2544437740 | Health Risk | Pathogenic | — |
| RS2544446810 | Health Risk | Pathogenic | — |
| RS368957257 | Health Risk | Pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS370972136 | Health Risk | Pathogenic | — |
| RS372896892 | Health Risk | Pathogenic | Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12 |
| RS387907325 | Health Risk | Pathogenic | Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12 |
| RS397509383 | Health Risk | Pathogenic | Bruck syndrome 1, Osteogenesis imperfecta type 12, Bruck syndrome 1 |
| RS72835683 | Health Risk | Pathogenic | — |
| RS782021744 | Health Risk | Pathogenic | — |
| RS797044852 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS869025223 | Health Risk | Pathogenic | Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11 |
| RS869320752 | Health Risk | Pathogenic | Bruck syndrome 1, Osteogenesis imperfecta, Bruck syndrome 1 |
| RS886044880 | Health Risk | Pathogenic | — |
| RS1555616334 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1567855132 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 11, Bruck syndrome 1, Osteogenesis imperfecta type 11 |
| RS1567856056 | Health Risk | Pathogenic/Likely pathogenic | Bruck syndrome 1, Osteogenesis imperfecta type 11, Bruck syndrome 1 |
| RS2144069621 | Health Risk | Pathogenic/Likely pathogenic | Bruck syndrome 1, Bruck syndrome 1 |
| RS387906960 | Health Risk | Pathogenic/Likely pathogenic | Bruck syndrome 1, Osteogenesis imperfecta, Bruck syndrome 1 |
| RS397514674 | Health Risk | Pathogenic/Likely pathogenic | Bruck syndrome 1, Osteogenesis imperfecta type 11, Osteogenesis imperfecta |
| RS782271121 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11 |
| RS782682320 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 11, Bruck syndrome 1, Osteogenesis imperfecta type 11 |