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FKBP10 Gene

protein-coding   GIFtS: 57
GCID: GC17P039968

FK506 Binding Protein 10, 65 KDa

(Previous name: FK506 binding protein 10 (65 kDa))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
FK506 Binding Protein 10, 65 KDa1 2     EC 5.2.1.83 8
FKBP652 3 5     OI112 5
Immunophilin FKBP652 3     FK506 Binding Protein 10 (65 KDa)1
65 KDa FK506-Binding Protein2 3     OI62
65 KDa FKBP2 3     PPIASE2
FKBP-102 3     hFKBP652
FKBP-652 3     Peptidyl-Prolyl Cis-Trans Isomerase FKBP102
FK506-Binding Protein 102 3     rotamase2
PPIase FKBP102 3     Rotamase3

External Ids:    HGNC: 181691   Entrez Gene: 606812   Ensembl: ENSG000001417567   OMIM: 6070635   UniProtKB: Q96AY33   

Export aliases for FKBP10 gene to outside databases

Previous GC identifers: GC17P039525 GC17P042056 GC17P039877 GC17P040342 GC17P037222 GC17P035730


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FKBP10 Gene:
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)

GeneCards Summary for FKBP10 Gene:
FKBP10 (FK506 binding protein 10, 65 kDa) is a protein-coding gene. Diseases associated with FKBP10 include osteogenesis imperfecta type xi, and kuskokwim disease. GO annotations related to this gene include FK506 binding and calcium ion binding. An important paralog of this gene is FKBP11.

UniProtKB/Swiss-Prot: FKB10_HUMAN, Q96AY3
Function: PPIases accelerate the folding of proteins during protein synthesis

Gene Wiki entry for FKBP10 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FKBP10 gene promoter:
         AREB6   PPAR-gamma1   NRSF form 1   HOXA5   XBP-1   PPAR-gamma2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFKBP10 promoter sequence
   Search Chromatin IP Primers for FKBP10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FKBP10


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

FKBP10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FKBP10 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P039968:  view genomic region     (about GC identifiers)

Start:
39,968,932 bp from pter      End:
39,979,469 bp from pter
Size:
10,538 bases      Orientation:
plus strand

1 alternative location:
Chr17+,NW_003571052 99,352-109,859     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FKB10_HUMAN, Q96AY3 (See protein sequence)
Recommended Name: Peptidyl-prolyl cis-trans isomerase FKBP10 precursor  
Size: 582 amino acids; 64245 Da
Sequence caution: Sequence=BAB15220.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAD97695.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q7Z3R4 Q9H3N3 Q9H6N5 Q9UF89

Explore the universe of human proteins at neXtProt for FKBP10: NX_Q96AY3

Explore proteomics data for FKBP10 at MOPED

Post-translational modifications: 

  • Glycosylated and phosphorylated (By similarity)1
  • Glycosylation2 at Ser35, Asn70, Asn182, Asn294, Asn310, Asn352, Asn393, Asn407
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FKBP10 (Q96AY3) (see all 8)
     DFVRYHY  RYHYNGT  GKKFDSS  PPHLGYG 


    See FKBP10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068758.3  
    ENSEMBL proteins: 
     ENSP00000468703   ENSP00000466097   ENSP00000408232   ENSP00000317232   ENSP00000466352  
     ENSP00000416822   ENSP00000442009  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    5 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR023566 PPIase_FKBP
     IPR018247 EF_Hand_1_Ca_BS
     IPR001179 PPIase_FKBP_dom

    Graphical View of Domain Structure for InterPro Entry Q96AY3

    ProtoNet protein and cluster: Q96AY3

    UniProtKB/Swiss-Prot: FKB10_HUMAN, Q96AY3
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 4 PPIase FKBP-type domains


    FKBP10 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FKB10_HUMAN, Q96AY3
    Function: PPIases accelerate the folding of proteins during protein synthesis
    Catalytic activity: Peptidylproline (omega=180) = peptidylproline (omega=0)
    Enzyme regulation: Inhibited by both FK506 and rapamycin, but not by cyclosporin A (By similarity)

         Enzyme Number (IUBMB): EC 5.2.1.81 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003755peptidyl-prolyl cis-trans isomerase activity IBA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0005528FK506 binding IBA--
         
    FKBP10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FKBP10:
     Decreased Wnt reporter activit 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Fkbp10):
     limbs/digits/tail 

    FKBP10 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FKBP10
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FKBP10
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    miRNA
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    miRTarBase miRNAs that target FKBP10:
    hsa-mir-181a-5p (MIRT025084), hsa-let-7c-5p (MIRT051795), hsa-mir-128-3p (MIRT021875), hsa-mir-132-3p (MIRT021739)

    Block miRNA regulation of human, mouse, rat FKBP10 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FKBP10 (see all 10):
    hsa-miR-98 hsa-let-7d hsa-miR-922 hsa-let-7c hsa-let-7i hsa-let-7g hsa-let-7e hsa-let-7b
    SwitchGear 3'UTR luciferase reporter plasmidFKBP10 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FKBP10

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    Sino Biological Human cDNA Clone for FKBP10
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FKBP10

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBP10


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FKB10_HUMAN, Q96AY3: Endoplasmic reticulum lumen (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum2
    extracellular2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen IEA--
    GO:0016020membrane IBA--

    FKBP10 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FKBP10
    Interactions:

        GeneGlobe Interaction Network for FKBP10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FKBP10 (Q96AY33 ENSP000003172324) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX1AQ9BQ833, ENSP000002513034I2D: score=2 STRING: ENSP00000251303
    SLX1BQ9BQ833, ENSP000003289404I2D: score=2 STRING: ENSP00000328940
    H2AFXP161043, ENSP000003643104I2D: score=2 STRING: ENSP00000364310
    ELNP155023, ENSP000002520344I2D: score=1 STRING: ENSP00000252034
    SLC2A4P146723I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000413protein peptidyl-prolyl isomerization IBA--
    GO:0006457protein folding IEA--
    GO:0018208peptidyl-proline modification IBA--

    FKBP10 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FKBP10 (FKB10)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FKBP10 gene: 
    NM_021939.3  

    Unigene Cluster for FKBP10:

    FK506 binding protein 10, 65 kDa
    Hs.463035  [show with all ESTs]
    Unigene Representative Sequence: NM_021939
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000585664 ENST00000585922 ENST00000429461 ENST00000321562(uc002hxv.2)
    ENST00000489591(uc002hxw.1) ENST00000487489 ENST00000455106 ENST00000490938
    ENST00000464180 ENST00000544340
    miRNA
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    Block miRNA regulation of human, mouse, rat FKBP10 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FKBP10 (see all 10):
    hsa-miR-98 hsa-let-7d hsa-miR-922 hsa-let-7c hsa-let-7i hsa-let-7g hsa-let-7e hsa-let-7b
    SwitchGear 3'UTR luciferase reporter plasmidFKBP10 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FKBP10
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FKBP10 (NM_021939)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FKBP10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FKBP10
    Primer
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    OriGene qPCR primer pairs and template standards for FKBP10
    OriGene qSTAR qPCR primer pairs in human, mouse for FKBP10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FKBP10
      QuantiTect SYBR Green Assays in human, mouse, rat FKBP10
      QuantiFast Probe-based Assays in human, mouse, rat FKBP10

    Additional mRNA sequence: 

    AB045981.1 AF337909.1 AK000690.1 AK025694.1 AK025874.1 AK074413.1 AK092708.1 AK172811.1 
    AK296107.1 AL365371.1 AL832985.1 BC016467.1 BX537452.1 

    22 DOTS entries:

    DT.40226864  DT.97820313  DT.444006  DT.100814514  DT.100814519  DT.100814511  DT.95095089  DT.100679290 
    DT.100814507  DT.91761823  DT.95095087  DT.91896046  DT.100814518  DT.102833617  DT.40118629  DT.99933402 
    DT.99970961  DT.100814509  DT.120956059  DT.120956076  DT.120956094  DT.97847562 

    Selected AceView cDNA sequences (see all 353):

    BX386152 BE017986 CN481487 AF337909 T09475 AW513548 BQ900731 AL514600 
    BU552748 AW074526 CA421297 BP365162 BP373508 BM556017 BP372132 AL541771 
    AI918172 CR590563 AA367475 AL522678 AA479551 CR606502 BM726246 CR621305 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FKBP10 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a ·
    SP1:                                                                    -                       -     -     -     -           -                                 
    SP2:                                      -     -                       -                                         -           -                                 
    SP3:                                                                                            -           -     -           -                                 
    SP4:        -     -     -                                                                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 16b · 16c ^ 17
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for FKBP10

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FKBP10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGAGGGAA
    FKBP10 Expression
    About this image


    FKBP10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Endothelium (Cardiovascular System)
             Human umbilical vein endothelial cells (HUVEC)
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 5
     
     Ovary (Reproductive System)
     
     Gall Bladder (Hepatobiliary System)
     
     Placenta (Extraembryonic Tissues)
    FKBP10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FKBP10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.463035
        Custom PCR Arrays for FKBP10
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    QuantiFast Probe-based Assays in human, mouse, rat FKBP10
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBP10

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for FKBP10 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fkbp101 , 5 FK506 binding protein 101, 5 86.06(n)1
    88.98(a)1
      11 (63.47 cM)5
    142301  NM_010221.21  NP_034351.21 
     1004156975 
    chicken
    (Gallus gallus)
    Aves FKBP101 FK506 binding protein 10, 65 kDa 77.58(n)
    79.45(a)
      427013  XM_003642830.2  XP_003642878.1 
    lizard
    (Anolis carolinensis)
    Reptilia FKBP106
    FK506 binding protein 10, 65 kDa
    75(a)
    1 ↔ 1
    6(66594823-66617619)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3981752 FK506-binding protein 75.89(n)    AF232672.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.32122 Danio rerio, Similar to FK506 binding protein 10 (65 more 71.98(n)    BC045938.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG147156
    --
    41(a)
    many ↔ many
    3R(7499941-7500645)
    worm
    (Caenorhabditis elegans)
    Secernentea fkb-36
    fkb-46
    (see all 3)
    Protein FKB-4 (fkb-4) mRNA, complete cds
    (see all 3)
    29(a)
    29(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    V(7225369-7226314) WBGene00001428
    V(12785153-12787104) WBGene00001429
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FPR26
    Membrane-bound peptidyl-prolyl cis-trans isomerase...
    39(a)
    1 → many
    IV(1480425-1480832) YDR519W


    ENSEMBL Gene Tree for FKBP10 (if available)
    TreeFam Gene Tree for FKBP10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FKBP10 gene
    FKBP112  FKBP22  FKBP142  FKBP92  FKBP72  
    13 SIMAP similar genes for FKBP10 using alignment to 7 protein entries:     FKB10_HUMAN (see all proteins):
    DKFZp666D193    FKBP9L    FKBP9    FKBP2    FKBP11    FKBP7
    FKBP14    FKBP12-Exip2    FKBP1B    FKBP1C    FKBP1A    FKBP4
    FKBP6

    FKBP10 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FKBP10
    PGOHUM00000232700


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FKBP10 (see all 386)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699034
    Bruck syndrome 1 (BRKS1)4--see VAR_0699032 R Q mis40--------
    VAR_0699024
    Bruck syndrome 1 (BRKS1)4--see VAR_0699022 E K mis40--------
    VAR_0699044
    Bruck syndrome 1 (BRKS1)4--see VAR_0699042 P L mis40--------
    rs347647491,2,,4
    C,Funtested140763466(+) CAGTAA/GGGGCG 2 K R mis113Minor allele frequency- G:0.06NA NS EA CSA WA EU 6734
    rs80787751,2
    C,F,A,Huntested140764290(+) GGGACA/GGTGAT 2 T syn1 ese39Minor allele frequency- G:0.02NS EA NA WA CSA 5164
    rs72086191,2
    C,Huntested140765433(+) AGGACA/TCTGTC 2 T syn1 ese34Minor allele frequency- T:0.00NS EA 416
    rs1115441451,2
    C--35734040(+) CAATT-/AAAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs716433441,2
    C--35741265(+) GAAGG-/CTCCTTTC 1 -- cds11Minor allele frequency- CTC:0.00CSA 2
    rs38350851,2
    C--35741267(+) AGGCTCCT/-TTCCC 1 -- cds1 trp31Minor allele frequency- -:0.50NA 2
    rs1133026871,2
    C,F--39971842(+) CCTCCT/CGATTA 1 -- int12Minor allele frequency- C:0.25WA CSA 4

    HapMap Linkage Disequilibrium report for FKBP10 (39968932 - 39979469 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FKBP10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715941CNV Deletion23290073
    nsv833447CNV Loss17160897
    nsv908238CNV Loss21882294
    dgv3168n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): FKBP10
    Locus Specific Mutation Databases (LSDB): FKBP10

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FKBP10
    DNA2.0 Custom Variant and Variant Library Synthesis for FKBP10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607063   
    OMIM disorders: 610968  
    UniProtKB/Swiss-Prot: FKB10_HUMAN, Q96AY3
  • Osteogenesis imperfecta 11 (OI11) [MIM:610968]: A form of osteogenesis imperfecta, a connective tissue
    disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma.
    Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality.
    Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing
    loss, and blue sclerae. OI11 is an autosomal recessive form. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Bruck syndrome 1 (BRKS1) [MIM:259450]: A disease characterized by generalized osteopenia, congenital
    joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe
    limb deformity, progressive scoliosis, and pterygia. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 14 diseases for FKBP10:    
    About MalaCards
    osteogenesis imperfecta type xi    kuskokwim disease    fkbp10-related osteogenesis imperfecta    osteogenesis imperfecta type 6
    bruck syndrome 2    osteogenesis imperfecta type 5    osteogenesis imperfecta    dentinogenesis imperfecta
    gaucher's disease    ovarian cancer    hepatocellular carcinoma    multiple myeloma
    myeloma    colorectal cancer

    2 diseases from the University of Copenhagen DISEASES database for FKBP10:
    Osteogenesis imperfecta     Dentinogenesis imperfecta

    FKBP10 for disorders           About GeneDecksing


    Export disorders for FKBP10 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FKBP10 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with FKBP10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens. (PubMed id 18786928)1, 3, 9 Ishikawa Y....BAochinger H.P. (J. Biol. Chem. 2008)
    2. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. (PubMed id 22949511)1, 2 Schwarze U....Byers P.H. (Hum. Mol. Genet. 2013)
    3. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. (PubMed id 20839288)1, 2 Kelley B.P....Lee B. (J. Bone Miner. Res. 2011)
    4. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. (PubMed id 20362275)1, 2 Alanay Y.... Krakow D. (Am. J. Hum. Genet. 2010)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (Nat. Biotechnol. 2003)
    9. Developmental regulation of FKBP65. An ER-localized extracellular matrix binding-protein. (PubMed id 11071917)1, 3 Patterson C.E....Davis E.C. (Mol. Biol. Cell 2000)
    10. Developmental regulation and coordinate reexpression of FKBP65 with extracellular matrix proteins after lung injury suggest a specialized function for this endoplasmic reticulum immunophilin. (PubMed id 16333983)1, 9 Patterson C.E....Davis E.C. (amp 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 60681 HGNC: 18169 AceView: FKBP10 Ensembl:ENSG00000141756 euGenes: HUgn60681
    ECgene: FKBP10 H-InvDB: FKBP10

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FKBP10 Pharmacogenomics, SNPs, Pathways
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=FKBP10

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FKBP10 gene:
    Search GeneIP for patents involving FKBP10

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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