FKBP10 (FKBP prolyl isomerase 10)

2011-10-01  

Identity

HGNC
FKBP10
LOCATION
17q21.2
LOCUSID
60681
ALIAS
BRKS1,FKBP65,OI11,OI6,PPIASE,hFKBP65
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 60681
MIM: 607063
HGNC: 18169
Ensembl: ENSG00000141756

Variants:

dbSNP: 60681
ClinVar: 60681
TCGA: ENSG00000141756
COSMIC: FKBP10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141756ENST00000321562Q96AY3
ENSG00000141756ENST00000321562A0A024R1W3
ENSG00000141756ENST00000429461C9JPC3
ENSG00000141756ENST00000455106H0Y827
ENSG00000141756ENST00000489591K7EM43
ENSG00000141756ENST00000585664K7ESG6
ENSG00000141756ENST00000585922K7ELI6

Expression (GTEx)

0
100
200
300
400
500
600
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203622752010Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.91
208392882011Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.46
229495112013Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.44
227183412012Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.36
237124252013Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.19
215679342011Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.18
272983632016Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2.15
281771552017A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen.11
221077502011Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.10
234340322013FKBP10 depletion enhances glucocerebrosidase proteostasis in Gaucher disease fibroblasts.10

Citation

Dessen P

FKBP10 (FKBP prolyl isomerase 10)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52417/fkbp10