Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	60681
Gene name	FKBP prolyl isomerase 10
Gene symbol	FKBP10
Synonyms (NCBI Gene)	BRKSBRKS1FKBP65OI11OI6PPIASETLH1hFKBP65
Chromosome	17
Chromosome location	17q21.2
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 isoform

Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61749879	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs137853883	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs140027863	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs141387386	G>T	Likely-pathogenic, uncertain-significance	Intron variant
rs372896892	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387906960	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs387907325	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397509383	CC>A	Pathogenic	Frameshift variant, coding sequence variant
rs397514674	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs797044559	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs797044852	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025223	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs869320752	TAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs886044880	T>G	Pathogenic	Splice donor variant
rs1555616334	A>G	Pathogenic	Splice acceptor variant
rs1555616552	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1567855132	->TGATGGAC	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1567856056	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1597905563	G>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1597906442	->GACTTTGTCCGCTACCACTACAATGGCACC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1597907877	A>G	Likely-pathogenic	Splice acceptor variant
rs1597908085	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

112

Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021739	hsa-miR-132-3p	Microarray	17612493
MIRT021875	hsa-miR-128-3p	Microarray	17612493
MIRT025084	hsa-miR-181a-5p	Microarray	17612493
MIRT051795	hsa-let-7c-5p	CLASH	23622248
MIRT440641	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440641	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT997120	hsa-miR-1321	CLIP-seq
MIRT997121	hsa-miR-134	CLIP-seq
MIRT997122	hsa-miR-1470	CLIP-seq
MIRT997123	hsa-miR-1913	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997125	hsa-miR-28-5p	CLIP-seq
MIRT997126	hsa-miR-3118	CLIP-seq
MIRT997127	hsa-miR-3127-3p	CLIP-seq
MIRT997128	hsa-miR-3139	CLIP-seq
MIRT997129	hsa-miR-3194-3p	CLIP-seq
MIRT997130	hsa-miR-324-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997133	hsa-miR-3678-3p	CLIP-seq
MIRT997134	hsa-miR-3714	CLIP-seq
MIRT997135	hsa-miR-3944-5p	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT997137	hsa-miR-4297	CLIP-seq
MIRT997138	hsa-miR-4419a	CLIP-seq
MIRT997139	hsa-miR-4469	CLIP-seq
MIRT997140	hsa-miR-4476	CLIP-seq
MIRT997141	hsa-miR-4510	CLIP-seq
MIRT997142	hsa-miR-4530	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997144	hsa-miR-4667-3p	CLIP-seq
MIRT997145	hsa-miR-4728-5p	CLIP-seq
MIRT997146	hsa-miR-4739	CLIP-seq
MIRT997147	hsa-miR-4756-5p	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997149	hsa-miR-532-3p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997151	hsa-miR-615-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT997153	hsa-miR-708	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq
MIRT997155	hsa-miR-943	CLIP-seq
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT997120	hsa-miR-1321	CLIP-seq
MIRT997121	hsa-miR-134	CLIP-seq
MIRT997122	hsa-miR-1470	CLIP-seq
MIRT997123	hsa-miR-1913	CLIP-seq
MIRT1995679	hsa-miR-2110	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997126	hsa-miR-3118	CLIP-seq
MIRT1995680	hsa-miR-3150a-3p	CLIP-seq
MIRT1995681	hsa-miR-3162-5p	CLIP-seq
MIRT1995682	hsa-miR-3175	CLIP-seq
MIRT997129	hsa-miR-3194-3p	CLIP-seq
MIRT997130	hsa-miR-324-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997133	hsa-miR-3678-3p	CLIP-seq
MIRT1995683	hsa-miR-376c	CLIP-seq
MIRT997135	hsa-miR-3944-5p	CLIP-seq
MIRT1995684	hsa-miR-4259	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT1995685	hsa-miR-4300	CLIP-seq
MIRT1995686	hsa-miR-4323	CLIP-seq
MIRT997138	hsa-miR-4419a	CLIP-seq
MIRT997139	hsa-miR-4469	CLIP-seq
MIRT997141	hsa-miR-4510	CLIP-seq
MIRT997142	hsa-miR-4530	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997144	hsa-miR-4667-3p	CLIP-seq
MIRT1995687	hsa-miR-4690-3p	CLIP-seq
MIRT1995688	hsa-miR-4715-5p	CLIP-seq
MIRT997145	hsa-miR-4728-5p	CLIP-seq
MIRT997146	hsa-miR-4739	CLIP-seq
MIRT1995689	hsa-miR-4756-3p	CLIP-seq
MIRT997147	hsa-miR-4756-5p	CLIP-seq
MIRT1995690	hsa-miR-4757-5p	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997149	hsa-miR-532-3p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT1995691	hsa-miR-920	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq
MIRT1995692	hsa-miR-939	CLIP-seq
MIRT997155	hsa-miR-943	CLIP-seq
MIRT997124	hsa-miR-2467-3p	CLIP-seq
MIRT997131	hsa-miR-3614-3p	CLIP-seq
MIRT997136	hsa-miR-4290	CLIP-seq
MIRT997132	hsa-miR-3659	CLIP-seq
MIRT997143	hsa-miR-4658	CLIP-seq
MIRT997148	hsa-miR-4758-5p	CLIP-seq
MIRT997150	hsa-miR-574-5p	CLIP-seq
MIRT997152	hsa-miR-648	CLIP-seq
MIRT997116	hsa-miR-1224-3p	CLIP-seq
MIRT997117	hsa-miR-1260	CLIP-seq
MIRT997118	hsa-miR-1260b	CLIP-seq
MIRT997119	hsa-miR-1280	CLIP-seq
MIRT2681009	hsa-miR-1910	CLIP-seq
MIRT2681010	hsa-miR-214	CLIP-seq
MIRT2681011	hsa-miR-3619-5p	CLIP-seq
MIRT2681012	hsa-miR-4252	CLIP-seq
MIRT2681013	hsa-miR-4291	CLIP-seq
MIRT2681014	hsa-miR-455-3p	CLIP-seq
MIRT2681015	hsa-miR-761	CLIP-seq
MIRT997154	hsa-miR-922	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IBA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IEA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	ISS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005528	Function	FK506 binding	IEA
GO:0005528	Function	FK506 binding	ISS
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	28774593
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006457	Process	Protein folding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042060	Process	Wound healing	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0085029	Process	Extracellular matrix assembly	IEA

MIM	HGNC	e!Ensembl
607063	18169	ENSG00000141756

Q96AY3

Protein name

Peptidyl-prolyl cis-trans isomerase FKBP10 (PPIase FKBP10) (EC 5.2.1.8) (65 kDa FK506-binding protein) (65 kDa FKBP) (FKBP-65) (FK506-binding protein 10) (FKBP-10) (Immunophilin FKBP65) (Rotamase)

Protein function

PPIases accelerate the folding of proteins during protein synthesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00254	FKBP_C	55 → 147	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
PF00254	FKBP_C	167 → 259	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
PF00254	FKBP_C	279 → 371	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
PF00254	FKBP_C	392 → 483	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain
PF13202	EF-hand_5	503 → 526	EF hand	Domain
PF13202	EF-hand_5	547 → 569	EF hand	Domain

Sequence

MFPAGPPSHSLLRLPLLQLLLLVVQAVGRGLGRASPAGGPLEDVVIERYHIPRACPREVQ
MGDFVRYHYNGTFEDGKKFDSSYDRNTLVAIVVGVGRLITGMDRGLMGMCVNERRRLIVP
PHLGYGSIGLAGLIPPDATLYFDVVLLDVWNKEDTVQVSTLLRPPHCPRMVQDGDFVRYH
YNGTLLDGTSFDTSYSKGGTYDTYVGSGWLIKGMDQGLLGMCPGERRKIIIPPFLAYGEK
GYGTVIPPQASLVFHVLLIDVHNPKDAVQLETLELPPGCVRRAGAGDFMRYHYNGSLMDG
TLFDSSYSRNHTYNTYIGQGYIIPGMDQGLQGACMGERRRITIPPHLAYGENGTGDKIPG
SAVLIFNVHVIDFHNPADVVEIRTLSRPSETCNETTKLGDFVRYHYNCSLLDGTQLFTSH
DYGAPQEATLGANKVIEGLDTGLQGMCVGERRQLIVPPHLAHGESGARGVPGSAVLLFEV
ELVSREDGLPTGYLFVWHKDPPANLFEDMDLNKDGEVPPEEFSTFIKAQVSEGKGRLMPG
QDPEKTIGDMFQNQDRNQDGKITVDELKLKSDEDEERVHEEL

Sequence length

582

Interactions

View interactions

238

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Pathogenic	rs137853883	RCV001814173
Bruck syndrome	Pathogenic	rs141847881	RCV001260285
Bruck syndrome 1	Likely pathogenic; Pathogenic	rs782682320, rs2144041758, rs2144041488, rs869320752, rs2144069621, rs1567856056, rs2544434003, rs137853884, rs387906960, rs1555616552, rs137853883, rs397509383, rs397514674, rs1567855132	RCV005017026 RCV002244230 RCV002250878 RCV000190460 RCV004798056 RCV005415485 RCV005015046 RCV000023606 RCV000023608 RCV000023609 RCV000023610 RCV000034358 RCV005019027 RCV000034324 RCV000034360 RCV001007839
FKBP10-related disorder	Pathogenic	rs137853884	RCV003964811
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs797044559, rs368957257, rs869320752, rs387906960, rs1555616552, rs137853883, rs397514674	RCV004798795 RCV005406590 RCV003993877 RCV002281717 RCV005055522 RCV004798839 RCV004579534
Osteogenesis imperfecta type 11	Likely pathogenic; Pathogenic	rs2144052934, rs782271121, rs782682320, rs869025223, rs1555616685, rs2544434003, rs2544446785, rs1567856056, rs1555616552, rs137853883, rs397514674, rs1567855132, rs1597902342, rs1374482728, rs1597905563, rs2047862318 View all (1 more)	RCV001526492 RCV004771514 RCV005017026 RCV000208538 RCV003340954 RCV005015046 RCV004547269 RCV003137541 RCV003985074 RCV000505676 RCV003985091 RCV003137556 RCV000778071 RCV000844862 RCV000844863 RCV000844864 RCV001270800
Osteogenesis imperfecta type 12	Pathogenic	rs137853882, rs2544422008, rs137853883, rs372896892, rs397509383, rs387907325	RCV000003710 RCV000023607 RCV000003711 RCV000033069 RCV000034359 RCV000034825
Osteogenesis imperfecta type III	Likely pathogenic	rs1597906442, rs1597908085, rs1597907877	RCV000860015 RCV000860014 RCV000860009

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs140027863	RCV005889845
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs140027863	RCV005889847
Cervical cancer	Uncertain significance; Benign	rs782117189, rs8078775	RCV005930239 RCV005894614
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign	rs140027863, rs8078775	RCV005889848 RCV005894615
Gastric cancer	Uncertain significance	rs541344214	RCV005924346
Lung cancer	Benign	rs8078775	RCV005894618
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs140027863	RCV005889846
Osteogenesis Imperfecta, Recessive	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs886052924, rs55720039, rs782216438, rs3835085	RCV000333167 RCV000361469 RCV000397996 RCV000405286
Sarcoma	Benign	rs8078775	RCV005894616
Thymoma	Benign	rs8078775	RCV005894617
Uterine corpus endometrial carcinoma	Benign	rs8078775	RCV005894619

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adamantinoma	Associate	36655627
Adenocarcinoma of Lung	Associate	37201304
Arthrogryposis	Associate	23712425
Brain Neoplasms	Associate	37201304
Bruck syndrome 1	Associate	20839288, 22107750, 22949511, 23712425, 25238597, 27146342, 27298363, 37422836, 39769143
Carcinoma Renal Cell	Associate	34388114, 36463181, 38233415
Colonic Neoplasms	Associate	33985413
Colorectal Neoplasms	Associate	35233964, 35395711, 37511172
Contracture	Associate	20839288, 22949511, 23712425
Dentinogenesis Imperfecta	Associate	22107750
Emphysema	Associate	33535173
Epiphyseal dysplasia multiple 1	Associate	24272907
Fibrosis	Associate	27298363
Fractures Bone	Associate	22949511, 36655627
Gaucher Disease	Associate	23434032
Glioma	Associate	33557829, 34512630
Hepatoblastoma	Associate	39684755
Hypoxia	Associate	38233415
Keloid	Associate	32327724
Lysosomal Storage Diseases	Associate	23434032
Mitochondrial Diseases	Associate	36915111
Neoplasm Metastasis	Associate	38233415
Neoplasms	Inhibit	21399973
Neoplasms	Associate	27298363, 31233188, 31868996, 33557829, 36341424, 37511172, 39684755
Osteogenesis Imperfecta	Associate	20188343, 20839288, 21829228, 22061863, 22107750, 22718341, 23712425, 25510505, 25742658, 27146342, 27706701, 29801479, 36655627
Osteogenesis imperfecta type 3	Associate	22107750
Osteogenesis Imperfecta Type IV	Associate	22107750, 35550181
Osteoporosis pseudoglioma syndrome	Associate	20839288, 22107750, 22949511
Ovarian Cysts	Associate	21399973
Ovarian Diseases	Associate	21399973
Ovarian Neoplasms	Inhibit	21399973
Pituitary Neoplasms	Associate	36750863
Polydactyly	Associate	37422836
Prostatitis	Associate	22904677
Pulmonary Disease Chronic Obstructive	Associate	33535173
Scoliosis	Associate	36655627
Silicosiderosis	Associate	22061863
Spinal Diseases	Associate	36655627
Spinal Dysraphism	Associate	37422836
Stomach Neoplasms	Associate	31233188, 31868996

FKBP10 (FKBP prolyl isomerase 10)