FKBP10 - FKBP prolyl isomerase 10 Gene

Homo sapiens

Also known as OI6; OI11; BRKS1; FKBP65; PPIASE; hFKBP65

Gene ID: 60681 | Gene type: protein coding

About FKBP10

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:41,813,004-41,823,213 (from NCBI)

This gene has 9 transcripts (splice variants), 272 orthologues, 18 paralogues and is associated with 6 phenotypes. Ubiquitous expression in placenta (RPKM 31.0), endometrium (RPKM 25.7) and 22 other tissues.

Summary

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]

FKBP10 Products(1)

mRNA	Protein	Name
NM_021939.4	NP_068758.3	peptidyl-prolyl cis-trans isomerase FKBP10 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	28774593	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FKBP10 Protein Structure

FKBP_C

EF-hand_5

0
100
200
300
400
500
582 a.a.

Protein Preferred Names

Protein Names

peptidyl-prolyl cis-trans isomerase FKBP10

65 kDa FK506-binding protein

Related Diseases

Diseases

Alias

Bruck Syndrome 1

Kuskokwim Disease	Kuskokwim Syndrome
BRKS1	Arthrogryposis-Like Disorder
Arthrogryposis-Like Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures
Bruck Syndrome-1	Arthrogryposis Like Disorder
Bruck Syndrome, Type 1

Osteogenesis Imperfecta, Type Xi

Osteogenesis Imperfecta Type 11	OI11
Osteogenesis Imperfecta Type Xi	Oi, Type Xi
Osteogenesis Imperfecta 11	Oi Type Xi
Oi-Xi

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Osteogenesis Imperfecta, Type Xii

Osteogenesis Imperfecta Type 12	OI12
Osteogenesis Imperfecta Type Xii	Oi, Type Xii
Osteogenesis Imperfecta 12	Oi Type Xii
Oi-Xii	Osteogenesis Imperfecta Sillence Type Iii

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii	OI3
Oi, Type Iii	Osteogenesis Imperfecta Type 3
Oi Type Iii	Oi Type 3
Progressive Deforming Osteogenesis Imperfecta	Severe Osteogenesis Imperfecta
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae	Progressively Deforming Osteogenesis Imperfecta With Normal Sclera
Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae	Progressively Deforming Oi
Osteogenesis Imperfecta 3	Oi-Iii
Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4	Osteogenesis Imperfecta Type Iv
OI4	Oi, Type Iv
Osteogenesis Imperfecta With Normal Sclerae	Oi Type Iv
Oi Type 4	Osteogenesis Imperfecta With Normal Sclera
Common Variable Oi With Normal Sclerae	Osteogenesis Imperfecta 4
Oi-Iv

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin	Dentinogenesis Imperfecta Without Osteogenesis Imperfecta
Dgi	Capdepont Teeth
Dgi Without Oi	Di
Non-Syndromic Dgi	Non-Syndromic Dentinogenesis Imperfecta
Opalescent Teeth Without Oi	Opalescent Teeth Without Osteogenesis Imperfecta
Opalescent Dentin

Achondrogenesis, Type Ia

Achondrogenesis Type Ia	Achondrogenesis Type 1a
ACG1A	Achondrogenesis, Houston-Harris Type
Achondrogenesis Houston-Harris Type	Achondrogenesis 1a
Acg-Ia

Cole-Carpenter Syndrome

Cole Carpenter Syndrome	Bone Fragility Craniosynostosis Proptosis Hydrocephalus
Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features	Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome

Osteogenesis Imperfecta, Type Ii

Vrolik Type Of Osteogenesis Imperfecta	Osteogenesis Imperfecta Type 2
OI2	Oi, Type Ii
Osteogenesis Imperfecta Congenita	Oic
Osteogenesis Imperfecta Type Ii	Lethal Osteogenesis Imperfecta
Oi Type 2	Osteogenesis Imperfecta Congenita Perinatal Lethal Form
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form	Perinatal Lethal Osteogenesis Imperfecta Congenita
Perinatally Lethal Oi	Osteogenesis Imperfecta 2
Oi-Ii	Oi-Iia
Oi Type Iia	Osteogenesis Imperfecta Type Iia
Osteogenesis Imperfecta Type Ii Autosomal Dominant	Oi Type Ii
Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Type Xix

OI19	Osteogenesis Imperfecta Type 19
Osteogenesis Imperfecta Type Xix	Osteogenesis Imperfecta, Type 19
Osteogenesis Imperfecta 19

Osteogenesis Imperfecta, Type Xiv

Osteogenesis Imperfecta Type 14	OI14
Osteogenesis Imperfecta Type Xiv	Oi, Type Xiv
Osteogenesis Imperfecta 14	Oi Type Xiv
Oi-Xiv

Bone Development Disease

Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I	EDSCL1
Ehlers-Danlos Syndrome Classic Type 1	Ehlers-Danlos Syndrome Type 1
Ehlers-Danlos Syndrome, Type I, Formerly	Eds1, Formerly
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly	Eds I, Formerly
Ehlers-Danlos Syndrome, Gravis Type, Formerly	Ehlers-Danlos Syndrome, Type 1
Type I Ehlers-Danlos Syndrome	Eds1
Eds I	Ehlers-Danlos Syndrome, Gravis Type
Ehlers-Danlos Syndrome, Severe Classic Type	Ehlers-Danlos Syndrome 1
Ehlers-Danlos, Classic Syndrome, Type 1	Ehlers-Danlos Syndrome Type 2

Caffey Disease

Infantile Cortical Hyperostosis	CAFYD
Cortical Congenital Hyperostosis	Caffey-Silverman Syndrome
De Toni-Caffey Disease	Hyperostosis Cortical Infantile
Hyperostosis, Cortical, Congenital

Scoliosis

Supravalvular Aortic Stenosis

SVAS	Supravalvar Aortic Stenosis
Supravalvar Aortic Stenosis, Eisenberg Type	Aortic Supravalvular Stenosis
Aortic Stenosis, Supravalvular	Supra-Valvular Aortic Stenosis
Stenosis, Aortic Supravalvular	Stenosis, Supravalvular Aortic
Supravalvular Stenosis, Aortic	Aortic Stenosis Supravalvular

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I	OI1
Oi, Type I	Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta With Blue Sclerae	Osteogenesis Imperfecta Type 1
Adair-Dighton Syndrome	Mild Osteogenesis Imperfecta
Non-Deforming Osteogenesis Imperfecta	Oi Type 1
Van Der Hoeve Syndrome	Classic Non-Deforming Oi With Blue Sclerae
Osteogenesis Imperfecta 1	Oi-I
Osteopenic Non-Fracture Syndrome	Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta	Lobstein'S Disease

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Osteoporosis, Juvenile

Idiopathic Juvenile Osteoporosis	Idiopathic Osteoporosis
Juvenile Osteoporosis	Ijo

Keratosis Follicularis Spinulosa Decalvans

Kfsd	Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04956	FKBP10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FKBP10	RGD	RGD:1549751
Felis catus	FKBP10	VGNC	VGNC:62277
Canis familiaris	FKBP10	VGNC	VGNC:55564
Macaca mulatta	FKBP10	VGNC	VGNC:99152
Bos taurus	FKBP10	VGNC	VGNC:29017
Mus musculus	FKBP10	MGD	MGI:104769

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