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FKBP8 Gene

protein-coding   GIFtS: 64
GCID: GC19M018642

FK506 Binding Protein 8, 38kDa

(Previous name: FK506-binding protein 8 (38kD))
  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 8, 38kDa1 2     PPIase FKBP82 3
FKBP382 3 5     FKBPr382
FK506-Binding Protein 8 (38kD)1 2     Peptidyl-Prolyl Cis-Trans Isomerase FKBP82
38 KDa FK506-Binding Protein2 3     rotamase2
38 KDa FKBP2 3     EC 5.2.1.83
FKBP-382 3     FKBPR383
FKBP-82 3     Rotamase3
hFKBP382 3     FK506-Binding Protein 83

External Ids:    HGNC: 37241   Entrez Gene: 237702   Ensembl: ENSG000001057017   OMIM: 6048405   UniProtKB: Q143183   

Export aliases for FKBP8 gene to outside databases

Previous GC identifers: GC19M019136 GC19M019034 GC19M018487 GC19M018503 GC19M018205


(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 FKBP8 Gene:
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in
immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members
of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons
associated with memory function. (provided by RefSeq, Jul 2008)

GeneCards Summary for FKBP8 Gene:
FKBP8 (FK506 binding protein 8, 38kDa) is a protein-coding gene. Diseases associated with FKBP8 include spina bifida, and eosinophilia. GO annotations related to this gene include FK506 binding and identical protein binding. An important paralog of this gene is FKBP5.

UniProtKB/Swiss-Prot: FKBP8_HUMAN, Q14318
Function: Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act
as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The
BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active
form of FKBP8 may therefore play a role in the regulation of apoptosis

Gene Wiki entry for FKBP8 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_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FKBP8 gene promoter:
         MAZR   Nkx2-5   Tal-1beta   E47   COMP1   ARP-1   ATF   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFKBP8 promoter sequence
   Search Chromatin IP Primers for FKBP8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FKBP8


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

Entrez Gene cytogenetic band: 19p12   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p12

FKBP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FKBP8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M018642:  view genomic region     (about GC identifiers)

Start:
18,642,561 bp from pter      End:
18,654,887 bp from pter
Size:
12,327 bases      Orientation:
minus strand

(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: FKBP8_HUMAN, Q14318 (See protein sequence)
Recommended Name: Peptidyl-prolyl cis-trans isomerase FKBP8  
Size: 412 amino acids; 44562 Da
Cofactor: Calcium
Subunit: Homomultimers or heteromultimers (Potential). Forms heterodimer with calmodulin. When activated by
calmodulin and calcium, interacts with the BH4 domain of BCL2 and weakly with BCL2L1/BCLX isoform Bcl-X(L). Does
not bind and inhibit calcineurin. Interacts with HCV NS5A. Interacts with ZFYVE27; may negatively regulate
ZFYVE27 phosphorylation
Miscellaneous: Binds the immunosuppressant FK506 only in its calmodulin/calcium activated form
Caution: It is uncertain whether Met-1 or Met-58 is the initiator
Sequence caution: Sequence=AAB00102.1; Type=Miscellaneous discrepancy; Note=The first part of the cDNA maps to the
same locus, but in opposite orientation; Sequence=AAH09966.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=CAD98028.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
5 PDB 3D structures from and Proteopedia for FKBP8:
2AWG (3D)        2D9F (3D)        2F2D (3D)        2MF9 (3D)        3EY6 (3D)    
Secondary accessions: C8C9T5 Q53GU3 Q7Z349 Q86YK6
Alternative splicing: 3 isoforms:  Q14318-1   Q14318-2   Q14318-3   (Interacts with BCL2L1/BCLX)

Explore the universe of human proteins at neXtProt for FKBP8: NX_Q14318

Explore proteomics data for FKBP8 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys271, Lys314
  • Modification sites at PhosphoSitePlus

  • See FKBP8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036313.3  
    ENSEMBL proteins: 
     ENSP00000471700   ENSP00000441267   ENSP00000472302   ENSP00000222308   ENSP00000476767  
     ENSP00000472921   ENSP00000475588   ENSP00000475895   ENSP00000472643   ENSP00000472731  
     ENSP00000472087   ENSP00000472043   ENSP00000477278   ENSP00000388891   ENSP00000476586  

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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:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    Selected InterPro protein domains (see all 7):
     IPR011990 TPR-like_helical
     IPR023114 Elongated_TPR_rpt_dom
     IPR023566 PPIase_FKBP
     IPR001440 TPR_1
     IPR001179 PPIase_FKBP_dom

    Graphical View of Domain Structure for InterPro Entry Q14318

    ProtoNet protein and cluster: Q14318

    UniProtKB/Swiss-Prot: FKBP8_HUMAN, Q14318
    Similarity: Contains 1 PPIase FKBP-type domain
    Similarity: Contains 3 TPR repeats


    FKBP8 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: FKBP8_HUMAN, Q14318
    Function: Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act
    as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The
    BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active
    form of FKBP8 may therefore play a role in the regulation of apoptosis
    Catalytic activity: Peptidylproline (omega=180) = peptidylproline (omega=0)

         Enzyme Number (IUBMB): EC 5.2.1.81

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003755peptidyl-prolyl cis-trans isomerase activity IBA--
    GO:0005515protein binding IPI16844119
    GO:0005528FK506 binding IBA--
    GO:0042802identical protein binding IPI17024179
    GO:0046872metal ion binding IEA--
         
    FKBP8 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FKBP8:
     Decreased influenza A/WSN/33 r  Increased Hepatitis C virus re 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fkbp8):
     behavior/neurological  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  respiratory system  skeleton 
     vision/eye 

    FKBP8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FKBP8: Fkbp8tm1Kei Fkbp8tm1Tili

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FKBP8
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FKBP8

    miRNA
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    miRTarBase miRNAs that target FKBP8:
    hsa-mir-335-5p (MIRT017629), hsa-mir-1301-3p (MIRT036002), hsa-mir-92a-3p (MIRT049630), hsa-let-7a-5p (MIRT052520), hsa-mir-421 (MIRT039410)

    Block miRNA regulation of human, mouse, rat FKBP8 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate FKBP8:
    hsa-miR-361-3p hsa-miR-1321 hsa-miR-661 hsa-miR-324-3p hsa-miR-296-5p
    SwitchGear 3'UTR luciferase reporter plasmidFKBP8 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FKBP8

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBP8


    (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
    FKBP8_HUMAN, Q14318: Isoform 1: Mitochondrion membrane; Single-pass membrane protein; Cytoplasmic side
    FKBP8_HUMAN, Q14318: Isoform 3: Mitochondrion membrane; Single-pass membrane protein; Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    endoplasmic reticulum3
    cytosol2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005740mitochondrial envelope IBA--
    GO:0030176integral component of endoplasmic reticulum membrane IBA--
    GO:0031966mitochondrial membrane IEA--

    FKBP8 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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    SuperPaths for FKBP8 About    
    See pathways by source

    SuperPathContained pathways About
    1Senescence and Autophagy
    Senescence and Autophagy
    2Role of Calcineurin-dependent NFAT signaling in lymphocytes
    Role of Calcineurin-dependent NFAT signaling in lymphocytes


    2 BioSystems Pathways for FKBP8
        Senescence and Autophagy
    Role of Calcineurin-dependent NFAT signaling in lymphocytes



        Pathway & Disease-focused RT2 Profiler PCR Arrays including FKBP8: 
              mTOR Signaling in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FKBP8

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

    Selected Interacting proteins for FKBP8 (Q143181, 2, 3 ENSP000002223084) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NS5AO394741, 2EBI-724839,EBI-7016711 MINT-3378643 MINT-2841085 MINT-2840600 MINT-2840846 MINT-3378760 MINT-2840954 MINT-3378619 MINT-3378691 MINT-2841125 MINT-2840798 MINT-3390490 MINT-2840720 MINT-3378668 MINT-3378740 MINT-2840774 MINT-3378717
    CALM2P621582, 3MINT-58231 MINT-58233 MINT-58242 MINT-58244 I2D: score=4 
    CALM3P621582, 3MINT-58231 MINT-58233 MINT-58242 MINT-58244 I2D: score=4 
    BCL2P104152, 3, ENSP000003296234MINT-56638 MINT-56636 MINT-56637 I2D: score=5 STRING: ENSP00000329623
    FKBP8Q143181, 2EBI-724839,EBI-724839 MINT-3378810 MINT-3378783 MINT-3378839
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000413protein peptidyl-prolyl isomerization IBA--
    GO:0001708cell fate specification ----
    GO:0006457protein folding IEA--
    GO:0006915apoptotic process IEA--
    GO:0007224smoothened signaling pathway ----

    FKBP8 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 FKBP8

    1 HMDB Compound for FKBP8    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for FKBP8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tacrolimus 47.1 7 15832365 (2), 11744159 (1), 12510191 (1)



    FKBP8 for compounds           About GeneDecksing



    (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 FKBP8 gene: 
    NM_012181.3  

    Unigene Cluster for FKBP8:

    FK506 binding protein 8, 38kDa
    Hs.173464  [show with all ESTs]
    Unigene Representative Sequence: BX537927
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000597960 ENST00000544835(uc021uqp.1) ENST00000596558 ENST00000222308(uc010xqi.1 uc002njj.1 uc002njk.1)
    ENST00000608443 ENST00000601844 ENST00000596015 ENST00000606531 ENST00000596494
    ENST00000597611 ENST00000599540 ENST00000594844 ENST00000597547 ENST00000609656
    ENST00000453489 ENST00000610101
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    SwitchGear 3'UTR luciferase reporter plasmidFKBP8 3' UTR sequence
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    Additional mRNA sequence: 

    AK300571.1 AK313363.1 AY225339.1 AY278607.1 BC009966.1 BX537927.1 BX538124.1 BX647405.1 
    BX647720.1 GQ372970.1 

    24 DOTS entries:

    DT.92413570  DT.99968430  DT.100836157  DT.450389  DT.121442637  DT.100059708  DT.100836158  DT.121442605 
    DT.100059707  DT.100836163  DT.121442640  DT.100836145  DT.91957793  DT.95103473  DT.95103460  DT.100830880 
    DT.100836160  DT.121442620  DT.95103465  DT.95103468  DT.95103478  DT.95103481  DT.97853532  DT.92415263 

    Selected AceView cDNA sequences (see all 840):

    BF309256 CR625801 BQ920602 BG056833 BQ675777 BQ642483 BQ055850 BM451891 
    CR626588 BM923856 BQ642858 CR616183 CB141152 BQ707390 BQ949953 BM704227 
    BM789294 BQ653786 AW073233 CR593842 BU538344 CF126253 CR621530 BU857919 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FKBP8    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                      -                           


    ECgene alternative splicing isoforms for FKBP8

    (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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    FKBP8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCCTGCCC
    FKBP8 Expression
    About this image


    FKBP8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    FKBP8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FKBP8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.173464

    UniProtKB/Swiss-Prot: FKBP8_HUMAN, Q14318
    Tissue specificity: Widely expressed. Highest levels seen in the brain. Highly abundant in the retina

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FKBP8: 
              mTOR Signaling in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for FKBP8
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    QuantiFast Probe-based Assays in human, mouse, rat FKBP8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBP8

    (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.

    Orthologs for FKBP8 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fkbp81 , 5 FK506 binding protein 81, 5 86.68(n)1
    92.31(a)1
      8 (34.15 cM)5
    142321  NM_001111066.11  NP_001104536.11 
     705277245 
    chicken
    (Gallus gallus)
    Aves FKBP81 FK506 binding protein 8, 38kDa 72.44(n)
    72(a)
      420123  NM_001254739.1  NP_001241668.1 
    lizard
    (Anolis carolinensis)
    Reptilia FKBP86
    FK506 binding protein 8, 38kDa
    47(a)
    1 ↔ 1
    GL343759.1(206843-213100)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.325222 Xenopus laevis transcribed sequence with weak similarity more 78.5(n)    BJ069751.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc776722 hypothetical protein MGC77672 75.16(n)   393858  BC063964.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG54821 , 3 FK506 binding3
    CG54821
    34(a)3
    47.93(n)1
    35.62(a)1
      55E33
    371441  NM_137509.31  NP_611353.11 


    ENSEMBL Gene Tree for FKBP8 (if available)
    TreeFam Gene Tree for FKBP8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FKBP8 gene
    FKBP52  FKBP1A2  FKBP1C2  FKBP42  FKBP62  FKBP1B2  FKBP32  
    5 SIMAP similar genes for FKBP8 using alignment to 10 protein entries:     FKBP8_HUMAN (see all proteins):
    FKBP12-Exip2    FKBP1C    FKBP4    FKBP1A    FKBP1B

    FKBP8 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FKBP8
    PGOHUM00000259603


    (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 FKBP8 (see all 349)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1500545241,2
    --18575167(+) GGAGTA/GCAGTG 1 -- ds50010--------
    rs1179207861,2
    C,F--18575175(+) GTGGTG/ACAATC 1 -- ds50012Minor allele frequency- A:0.15NA EA 240
    rs1878791791,2
    --18575198(+) AGCCTC/TAAATT 1 -- ds50010--------
    rs1922690661,2
    --18575241(+) TCTTTA/TGAATT 1 -- ds50010--------
    rs1844662831,2
    --18575345(+) ACAGTA/GAACGC 1 -- ds50010--------
    rs1889667251,2
    --18575346(+) CAGTGA/GACGCT 1 -- ds50010--------
    rs1813863941,2
    --18575349(+) TGAACA/GCTGGG 1 -- ds50010--------
    rs104049751,2
    C,F,H--18575350(+) GAACGC/TTGGGG 1 -- ds50014Minor allele frequency- T:0.01NS NA 492
    rs1451964601,2
    C--18575360(+) GTAACA/GAGTGG 1 -- ds50010--------
    rs1156886301,2
    F--18575482(+) ATGTTG/CTGCCC 1 -- ds50011Minor allele frequency- C:0.04WA 118

    HapMap Linkage Disequilibrium report for FKBP8 (18642561 - 18654887 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for FKBP8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833776CNV Loss17160897
    nsv911283CNV Loss21882294
    dgv3784n71CNV Loss21882294
    nsv911285CNV Loss21882294
    nsv911282CNV Loss21882294
    nsv911274CNV Loss21882294
    nsv911281CNV Loss21882294
    nsv911284CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FKBP8
    DNA2.0 Custom Variant and Variant Library Synthesis for FKBP8

    (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: 604840    OMIM disorders: --

    13 diseases for FKBP8:    
    About MalaCards
    spina bifida    eosinophilia    hepatitis c virus    atopic dermatitis
    hypoxia    cystic fibrosis    dermatitis    hepatitis c
    hepatitis    neuronitis    melanoma    neuroblastoma
    malaria

    1 disease from the University of Copenhagen DISEASES database for FKBP8:
    Spina bifida

    FKBP8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FKBP8
    Human Genome Epidemiology (HuGE) Navigator: FKBP8 (1 document)

    Export disorders for FKBP8 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 FKBP8 gene, integrated from 10 sources (see all 76):
    (articles sorted by number of sources associating them with FKBP8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a cDNA encoding a novel human FK506-binding protein homolog containing leucine zipper and tetratricopeptide repeat motifs. (PubMed id 7543869)1, 2, 3, 9 Lam E.... Wiederrecht G. (Gene 1995)
    2. Characterization of a Bcl-XL-interacting protein FKBP8 and its splice variant in human RPE cells. (PubMed id 18385096)1, 2, 9 Chen Y.... Cai J. (Invest. Ophthalmol. Vis. Sci. 2008)
    3. Inherent calcineurin inhibitor FKBP38 targets Bcl-2 to mitochondria and inhibits apoptosis. (PubMed id 12510191)1, 2, 9 Shirane M. and Nakayama K.I. (Nat. Cell Biol. 2003)
    4. Bcl-2 regulator FKBP38 is activated by Ca2+/calmodulin. (PubMed id 15990872)1, 2, 9 Edlich F.... Fischer G. (EMBO J. 2005)
    5. A charge-sensitive loop in the FKBP38 catalytic domain modulates Bcl-2 binding. (PubMed id 20140889)1, 2 Maestre-MartA-nez M....LA1cke C. (J. Mol. Recognit. 2011)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Regulation of apoptosis and neurite extension by FKBP38 is required for neural tube formation in the mouse. (PubMed id 18459960)1, 2 Shirane M.... Nakayama K.I. (Genes Cells 2008)
    8. Solution structure of the FK506-binding domain of human FKBP38. (PubMed id 16604427)1, 2 Maestre-Martinez M....Luecke C. (J. Biomol. NMR 2006)
    9. Hepatitis C virus non-structural protein NS5A interacts with FKBP38 and inhibits apoptosis in Huh7 hepatoma cells. (PubMed id 16844119)1, 2 Wang J....Yuan Z. (FEBS Lett. 2006)
    10. Bcl-2 localized at the nuclear compartment induces apoptosis after transient overexpression. (PubMed id 17090549)1, 2 Portier B.P. and Taglialatela G. (J. Biol. Chem. 2006)

    (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: 23770 HGNC: 3724 AceView: FKBP8 Ensembl:ENSG00000105701 euGenes: HUgn23770
    ECgene: FKBP8 H-InvDB: FKBP8

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for FKBP8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FKBP8 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FKBP8 gene:
    Search GeneIP for patents involving FKBP8

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



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