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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FKBP6 Gene

protein-coding   GIFtS: 58
GCID: GC07P072742

FK506 Binding Protein 6, 36kDa

(Previous name: FK506-binding protein 6 (36kD))
  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)
About This Section

Aliases
FK506 Binding Protein 6, 36kDa1 2     Peptidylprolyl Cis-Trans Isomerase1
Immunophilin FKBP361 2 3     Peptidyl-Prolyl Cis-Trans Isomerase FKBP62
rotamase1 2     36 KDa FK506-Binding Protein3
36 KDa FKBP2 3     EC 5.2.1.83
FKBP362 3     FKBP-363
PPIase FKBP62 3     FKBP-63
FK506 Binding Protein 6 (36kD)1     Rotamase3
FK506-Binding Protein 6 (36kD)1     FK506-Binding Protein 63

External Ids:    HGNC: 37221   Entrez Gene: 84682   Ensembl: ENSG000000778007   OMIM: 6048395   UniProtKB: O753443   

Export aliases for FKBP6 gene to outside databases

Previous GC identifers: GC07P071382 GC07P072140 GC07P072154 GC07P071886 GC07P072078 GC07P072380 GC07P068623


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FKBP6 Gene:
The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation
and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal
region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are
multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for FKBP6 Gene: 
FKBP6 (FK506 binding protein 6, 36kDa) is a protein-coding gene. Diseases associated with FKBP6 include fkbp10-related osteogenesis imperfecta, and williams syndrome, and among its related super-pathways are Meiotic Synapsis and Cell Cycle, Mitotic. GO annotations related to this gene include FK506 binding and peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is FKBP5.

UniProtKB/Swiss-Prot: FKBP6_HUMAN, O75344
Function: PPIases accelerate the folding of proteins




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079593.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FKBP6 gene promoter:
         STAT1   STAT2   STAT1beta   ITF-2   Tal-1beta   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FKBP6 promoter sequence
   Search SABiosciences Chromatin IP Primers for FKBP6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FKBP6


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

FKBP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FKBP6 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P072742:  view genomic region     (about GC identifiers)

Start:
72,742,155 bp from pter      End:
72,772,641 bp from pter
Size:
30,487 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 72,075,227-72,105,713     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FKBP6_HUMAN, O75344 (See protein sequence)
Recommended Name: Peptidyl-prolyl cis-trans isomerase FKBP6  
Size: 327 amino acids; 37214 Da
1 PDB 3D structure from and Proteopedia for FKBP6:
3B7X (3D)    
Secondary accessions: B4DXT7 Q9UDS0
Alternative splicing: 2 isoforms:  O75344-1   O75344-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FKBP6: NX_O75344

Explore proteomics data for FKBP6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75344

  • FKBP6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FKBP6 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001128683.1  NP_001268233.1  NP_003593.3  

    ENSEMBL proteins: 
     ENSP00000416277   ENSP00000402360   ENSP00000394952   ENSP00000415891   ENSP00000403908  
     ENSP00000252037  
    Reactome Protein details: O75344
    Human Recombinant Protein Products for FKBP6: 
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    Novus Biologicals FKBP6 Proteins
    Novus Biologicals FKBP6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for FKBP6
    Cloud-Clone Corp. Proteins for FKBP6 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane IBA--

    FKBP6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR023566 PPIase_FKBP
     IPR001179 PPIase_FKBP_dom
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry O75344

    ProtoNet protein and cluster: O75344

    UniProtKB/Swiss-Prot: FKBP6_HUMAN, O75344
    Similarity: Contains 1 PPIase FKBP-type domain
    Similarity: Contains 3 TPR repeats


    FKBP6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FKBP6_HUMAN, O75344
    Function: PPIases accelerate the folding of proteins
    Catalytic activity: Peptidylproline (omega=180) = peptidylproline (omega=0)

         Genatlas biochemistry entry for FKBP6:
    FK506-binding protein6,T cell binding protein FKBP for the immunosuppressive agents FK506-rapamycin expressed in
    testis,heart,skeletal muscle,liver and kidney,deleted in Williams syndrome

         Enzyme Number (IUBMB): EC 5.2.1.81

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003755peptidyl-prolyl cis-trans isomerase activity IBA--
    GO:0005515protein binding ----
    GO:0005528FK506 binding IBA--
         
    FKBP6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FKBP6:
     Increased cell number in G1, s 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fkbp6):
     endocrine/exocrine gland  reproductive system 

    FKBP6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fkbp6tm1Pngr for FKBP6

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FKBP6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FKBP6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FKBP6 
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    SwitchGear 3'UTR luciferase reporter plasmidFKBP6 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBP6


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FKBP6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    2Cell Cycle
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4        Reactome Pathways for FKBP6
        Meiotic Synapsis
    Cell Cycle
    Meiosis
    Chromosome Maintenance



    FKBP6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FKBP6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/11 Interacting proteins for FKBP6 (O753442, 3 ENSP000002520374) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCNKO759092, 3, ENSP000003745294MINT-66761 I2D: score=5 STRING: ENSP00000374529
    NME7Q9Y5B82, 3, ENSP000003567854MINT-66560 I2D: score=5 STRING: ENSP00000356785
    GAPDHP044063, ENSP000002292394I2D: score=1 STRING: ENSP00000229239
    HSP90AA1P079003, ENSP000003351534I2D: score=1 STRING: ENSP00000335153
    TBC1D17Q9HA653I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000239pachytene ----
    GO:0000413protein peptidyl-prolyl isomerization ----
    GO:0006457protein folding IEA--
    GO:0007283spermatogenesis IEA--
    GO:0018208peptidyl-proline modification IBA--

    FKBP6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FKBP6

    Search CenterWatch for drugs/clinical trials and news about FKBP6

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FKBP6 gene (3 alternative transcripts): 
    NM_001135211.2  NM_001281304.1  NM_003602.4  

    Unigene Cluster for FKBP6:

    FK506 binding protein 6, 36kDa
    Hs.661266  [show with all ESTs]
    Unigene Representative Sequence: NM_003602
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431982(uc011kew.1) ENST00000442793 ENST00000413573(uc003twz.2)
    ENST00000445032(uc003tya.2) ENST00000429879(uc010lbe.1) ENST00000437013
    ENST00000252037
    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate FKBP6 (see all 10):
    hsa-miR-222* hsa-miR-199b-3p hsa-miR-199a-3p hsa-miR-3065-5p hsa-miR-3129-5p hsa-miR-548o hsa-miR-570 hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidFKBP6 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FKBP6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FKBP6

    Additional mRNA sequence: 

    AF038847.1 AK302121.1 AK310255.1 BC036817.1 

    6 DOTS entries:

    DT.309473  DT.101981340  DT.91685900  DT.95255279  DT.97774787  DT.97783554 

    22 AceView cDNA sequences:

    BG722503 BV176501 BV176436 AA843562 BC067783 BG720247 AI184590 AA078495 
    BC022013 AA446529 AA078227 BI825663 BV176079 AA077532 BM981791 AI190559 
    BF870204 AA446348 AI873214 AW118983 BU853536 AA078005 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FKBP6 expression in normal human tissues (normalized intensities)      FKBP6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACGCGGCTG
    FKBP6 Expression
    About this image


    FKBP6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Gonad
             XY Germ Cells Testis Cord
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord

    See FKBP6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FKBP6

    SOURCE GeneReport for Unigene cluster: Hs.661266

    UniProtKB/Swiss-Prot: FKBP6_HUMAN, O75344
    Tissue specificity: Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle,
    liver, and kidney

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBP6

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FKBP6 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fkbp61 , 5 FK506 binding protein 61, 5 83.28(n)1
    86.97(a)1
      5 (75.11 cM)5
    942441  NM_033571.21  NP_291049.11 
     1352917045 
    chicken
    (Gallus gallus)
    Aves FKBP61 FK506 binding protein 6, 36kDa 65.54(n)
    63.64(a)
      417460  XM_415708.3  XP_415708.3 
    lizard
    (Anolis carolinensis)
    Reptilia FKBP66
    FK506 binding protein 6, 36kDa
    54(a)
    1 ↔ 1
    5(63496701-63519409)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.195292 Xenopus laevis transcribed sequence with weak similarity more 72.94(n)    BJ028858.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.265962 Danio rerio cDNA clone IMAGE5411885, partial cds 72.92(n)    BC054673.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta shu1 shutdown 44.56(n)
    29.97(a)
      45360  NM_137993.3  NP_611837.1 


    ENSEMBL Gene Tree for FKBP6 (if available)
    TreeFam Gene Tree for FKBP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FKBP6 gene
    FKBP52  FKBP1A2  FKBP1C2  FKBP42  FKBP82  FKBP1B2  FKBP32  
    5 SIMAP similar genes for FKBP6 using alignment to 5 protein entries:     FKBP6_HUMAN (see all proteins):
    FKBP1C    FKBP1A    FKBP12-Exip2    FKBP1B    FKBP10

    FKBP6 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for FKBP6
    PGOHUM00000250883 PGOHUM00000250942


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/657 SNPs in FKBP6 are shown (see all 657)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58849071,2
    C,F--68637400(+) GTCACT/-ttttt 2 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs2018126071,2
    --72080356(+) AAAAA-/ACAAAAC 2 -- int10--------
    rs285013241,2
    C--72080357(+) AAAAAA/CAAAAC 2 -- int12Minor allele frequency- C:0.00WA 4
    rs679492331,2
    C--72080357(-) GTTTT-/GTTTTT 2 -- int12Minor allele frequency- G:0.25NA CSA 4
    rs3682276451,2
    C--72087992(+) TGTCT-/T/TTT 
            
    TTTTT
    4 -- int1 cds10--------
    rs106958411,2
    C--72088012(+) tttttTTT/-agaca 2 -- cds11Minor allele frequency- -:0.00NA 2
    rs681680251,2
    C--72095225(+) ACCTC-/CTTC  
      AGGGAT
    CTTCT
    2 -- int11Minor allele frequency- CTTCAGGGAT:0.00CSA 2
    rs112799231,2
    C--72095229(+) CCTTC-/AGGG  
      ATCTTC
    TATTC
    2 -- int11Minor allele frequency- AGGGATCTTC:0.00NA 2
    rs102749401,2
    C--72105083(+) aaaaaA/GGTTTC 2 -- int1 trp30--------
    rs106512871,2
    C--72749137(+) AAAAAAA/-GTCCT 2 -- int1 trp31Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for FKBP6 (72742155 - 72772641 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FKBP6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831027CNV Loss17160897
    dgv7324n71CNV Gain21882294
    esv34349CNV Gain17911159
    nsv888362CNV Gain21882294
    nsv520573CNV Gain+Loss19592680
    dgv2099e1CNV Complex17122850
    dgv2095e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): FKBP6
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing FKBP6
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604839    OMIM disorders: --

    UniProtKB/Swiss-Prot: FKBP6_HUMAN, O75344
  • Note=FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6
    may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • 8 diseases for FKBP6:    About MalaCards
    fkbp10-related osteogenesis imperfecta    williams syndrome    aortic valve stenosis    azoospermia
    williams-beuren syndrome    smallpox    infertility    esophagitis


    FKBP6 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for FKBP6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    williams syndrome 80 1 15770126 (1)
    azoospermia 72 2 15516791 (1), 16983454 (1)

    Genetic Association Database (GAD): FKBP6
    Human Genome Epidemiology (HuGE) Navigator: FKBP6 (5 documents)

    Export disorders for FKBP6 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)
    About This Section

    PubMed articles for FKBP6 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with FKBP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human gene FKBP6 is deleted in Williams syndrome. (PubMed id 9782077)1, 2, 3, 9 Meng X.... Keating M.T. (1998)
    2. Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (PubMed id 16227348)1, 4, 9 Westerveld G.H....van der Veen F. (2005)
    3. Evaluation of 172 candidate polymorphisms for associa tion with oligozoospermia or azoospermia in a large cohort of men of European d escent. (PubMed id 20378615)1, 4 Aston K.I....Carrell D.T. (2010)
    4. FKBP36 Is an Inherent Multifunctional Glyceraldehyde-3-phosphate Dehydrogenase Inhibitor. (PubMed id 19001379)1, 3 Jarczowski F....Edlich F. (2009)
    5. Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men. (PubMed id 17307919)1, 4 Zhang W....Zhoucun A. (2007)
    6. [Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia] (PubMed id 15696470)1, 4 Zhang W....Shi J.J. (2005)
    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. (2004)
    8. Is a genetic defect in Fkbp6 a common cause of azoospermia in humans? (PubMed id 16983454)1, 9 Miyamato T....Sengoku K. (2006)
    9. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. (PubMed id 15770126)1, 9 Metcalfe K....Tassabehji M. (2005)
    10. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 8468 HGNC: 3722 AceView: FKBP6.2 Ensembl:ENSG00000077800 euGenes: HUgn8468
    ECgene: FKBP6 H-InvDB: FKBP6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FKBP6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FKBP6 gene:
    Search GeneIP for patents involving FKBP6

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



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