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

PPIB Gene

protein-coding   GIFtS: 75
GCID: GC15M064448

Peptidylprolyl Isomerase B (Cyclophilin B)

  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
Peptidylprolyl Isomerase B (Cyclophilin B)1 2     PPIase B2 3
CYPB2 3 5     EC 5.2.1.83 8
Rotamase B2 3     OI92 5
CYP-S12 3     Cyclophilin-Like Protein2
S-cyclophilin2 3     Peptidyl-Prolyl Cis-Trans Isomerase B2
SCYLP2 3     Cyclophilin B3

External Ids:    HGNC: 92551   Entrez Gene: 54792   Ensembl: ENSG000001667947   OMIM: 1238415   UniProtKB: P232843   

Export aliases for PPIB gene to outside databases

Previous GC identifers: GC15M060234 GC15M057607 GC15M062026 GC15M062163 GC15M062235 GC15M041272


(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 PPIB Gene:
The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic
reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind
to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants
have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. (provided by
RefSeq, Oct 2009)

GeneCards Summary for PPIB Gene: 
PPIB (peptidylprolyl isomerase B (cyclophilin B)) is a protein-coding gene. Diseases associated with PPIB include ppib-related osteogenesis imperfecta, and osteogenesis imperfecta type 9, and among its related super-pathways are Collagen formation and BAFF in B-Cell Signaling. GO annotations related to this gene include unfolded protein binding and peptide binding. An important paralog of this gene is PPIH.

UniProtKB/Swiss-Prot: PPIB_HUMAN, P23284
Function: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic
peptide bonds in oligopeptides

Gene Wiki entry for PPIB 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PPIB gene promoter:
         Bach1   AP-1   Tal-1   E47   AREB6   FAC1   Pax-3   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPIB promoter sequence
   Search SABiosciences Chromatin IP Primers for PPIB

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


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

Entrez Gene cytogenetic band: 15q21-q22   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q21-q22

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M064448:  view genomic region     (about GC identifiers)

Start:
64,448,011 bp from pter      End:
64,455,404 bp from pter
Size:
7,394 bases      Orientation:
minus strand

(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: PPIB_HUMAN, P23284 (See protein sequence)
Recommended Name: Peptidyl-prolyl cis-trans isomerase B precursor  
Size: 216 amino acids; 23743 Da
Subunit: Interacts with DYM
Subcellular location: Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome
fractions from stage I to stage IV
Caution: It is uncertain whether Met-1 or Met-9 is the initiator
Sequence caution: Sequence=AAA52150.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for PPIB:
1CYN (3D)        3ICH (3D)        3ICI (3D)    
Secondary accessions: A8K534 Q6IBH5 Q9BVK5

Explore the universe of human proteins at neXtProt for PPIB: NX_P23284

Explore proteomics data for PPIB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23284

  • 4/10 DME Specific Peptides for PPIB (P23284) (see all 10)
     GGKSIYG  FMIQGGD  GKTVPKT  TNGSQFF 

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

    PPIB Protein Expression
    REFSEQ proteins: NP_000933.1  
    ENSEMBL proteins: 
     ENSP00000300026  
    Reactome Protein details: P23284
    Human Recombinant Protein Products for PPIB: 
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    Novus Biologicals PPIB Proteins
    Novus Biologicals PPIB Lysate
    Sino Biological Recombinant Protein for PPIB
    Sino Biological Cell Lysate for PPIB 
    ProSpec Recombinant Protein for PPIB
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS2000394
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0042470melanosome IEA--

    PPIB for ontologies           About GeneDecksing



    PPIB Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PPIB 

    Assay Products for PPIB: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR002130 Cyclophilin-like_PPIase_dom
     IPR024936 Cyclophilin-type_PPIase
     IPR020892 Cyclophilin-type_PPIase_CS

    Graphical View of Domain Structure for InterPro Entry P23284

    ProtoNet protein and cluster: P23284

    1 Blocks protein domain: IPB002130 Peptidyl-prolyl cis-trans isomerase

    UniProtKB/Swiss-Prot: PPIB_HUMAN, P23284
    Similarity: Belongs to the cyclophilin-type PPIase family. PPIase B subfamily
    Similarity: Contains 1 PPIase cyclophilin-type domain


    PPIB 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: PPIB_HUMAN, P23284
    Function: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic
    peptide bonds in oligopeptides
    Catalytic activity: Peptidylproline (omega=180) = peptidylproline (omega=0)
    Enzyme regulation: Cyclosporin A (CsA) inhibits CYPB

         Genatlas biochemistry entry for PPIB:
    peptidyl-propyl isomerase B

         Enzyme Number (IUBMB): EC 5.2.1.81 2

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003755peptidyl-prolyl cis-trans isomerase activity NAS2000394
    GO:0005515protein binding IPI15095401
    GO:0042277peptide binding IEA--
    GO:0051082unfolded protein binding TAS2000394
         
    PPIB for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PPIB:
     Increased G1 DNA content  Increased HPV18 LCR reporter a  Wnt reporter downregulated 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ppib):
     growth/size  integument  mortality/aging  no phenotypic analysis  skeleton 

    PPIB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ppibtm1.1Rjb for PPIB

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PPIB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PPIB 

    miRNA
    Products:
        
    miRTarBase miRNAs that target PPIB:
    hsa-mir-1 (MIRT001347)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PPIB
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate PPIB:
    hsa-miR-206 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-613 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidPPIB 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of PPIB 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPIB


    (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 PPIB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Extracellular matrix organization0.39
    Collagen formation0.74
    2BAFF in B-Cell Signaling
    Apoptosis and survival APRIL and BAFF signaling0.39
    3Development Prolactin receptor signaling
    Prolactin Signaling Pathway0.39
    4Syndecan-1-mediated signaling events
    Syndecan-1-mediated signaling events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PPIB
        Apoptosis and survival APRIL and BAFF signaling


    1 GeneGo (Thomson Reuters) Pathway for PPIB
        Apoptosis and survival APRIL and BAFF signaling

    2 BioSystems Pathways for PPIB
        Prolactin Signaling Pathway
    Syndecan-1-mediated signaling events


    3        Reactome Pathways for PPIB
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Collagen formation



    PPIB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PPIB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/60 Interacting proteins for PPIB (P232842, 3 ENSP000003000264) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF1Q130772, 3MINT-49520 I2D: score=2 
    ENSG00000206353Q154773I2D: score=1 
    ENSG00000223493Q154773I2D: score=1 
    ENSG00000225737Q154773I2D: score=1 
    ENSG00000228896Q154773I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000413protein peptidyl-prolyl isomerization NAS2000394
    GO:0006457protein folding IEA--
    GO:0030198extracellular matrix organization TAS--

    PPIB 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

    PPIB for compounds           About GeneDecksing

    EMD Millipore small molecules for PPIB:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PPIB

    1 HMDB Compound for PPIB    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--

    2 DrugBank Compounds for PPIB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Proline(-)-2-Pyrrolidinecarboxylic acid (see all 6)147-85-3targetbinder17139284 11752352 17016423
    1,4-Dithiothreitol-- --target--10592235

    5 Novoseek inferred chemical compound relationships for PPIB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclosporin a 69.9 42 9378502 (4), 10386979 (4), 8713086 (3), 11955071 (2), 18445599 (2), 7547885 (1), 17588944 (1), 11688976 (1), 2000394 (1), 18054915 (1), 8206968 (1), 11206060 (1), 9583869 (1), 15109301 (1), 10419889 (1), 7829860 (1), 7629154 (1), 2040592 (1), 8652625 (1) (see top 4)
    heparan sulfate 56.2 21 19940140 (4), 17588944 (4), 15109301 (4)
    proline 38.6 5 19781681 (2), 17630507 (1)
    anti-fungal 24.4 3 15245883 (1), 11848297 (1), 11732686 (1)
    heparin 22.8 6 15109301 (4), 19940140 (1)

    Search CenterWatch for drugs/clinical trials and news about PPIB

    (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 PPIB gene: 
    NM_000942.4  

    Unigene Cluster for PPIB:

    Peptidylprolyl isomerase B (cyclophilin B)
    Hs.434937  [show with all ESTs]
    Unigene Representative Sequence: BQ049986
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300026(uc002and.3) ENST00000558492 ENST00000561048(uc010bgx.1)

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate PPIB:
    hsa-miR-206 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-613 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidPPIB 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional mRNA sequence: 

    AK291149.1 AK311074.1 BC001125.2 BC008848.2 BC020800.1 BC032138.2 CR456829.1 M60457.1 
    M60857.1 M63573.1 

    24/27 DOTS entries (see all 27):

    DT.95344633  DT.119195  DT.100845917  DT.95352178  DT.100845915  DT.100845910  DT.95352206  DT.97784070 
    DT.100845912  DT.100845913  DT.100845919  DT.121023162  DT.121023414  DT.92068163  DT.92457228  DT.95237355 
    DT.95352171  DT.100845914  DT.121023234  DT.121023413  DT.121023420  DT.92457220  DT.95147920  DT.95352090 

    24/953 AceView cDNA sequences (see all 953):

    BI917046 BE256255 BU191444 BM825346 BQ924469 CB139215 BE894788 CB114010 
    BM856546 AW473332 BM771984 BM272656 BQ771566 BQ685210 BQ901140 BM461739 
    BX421459 BU077971 BQ668345 BM823598 BQ670094 BM545004 BQ433727 BU676609 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for PPIB

    (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

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


    PPIB 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
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Endochondral Facial Bones
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
             sensory organ/ear/inner ear   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             sensory organ/ear/inner ear   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
             skeleton/cranium/chondrocranium   
     
     Lower Urinary Tract (Urinary System)
             bladder   

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

    SOURCE GeneReport for Unigene cluster: Hs.434937
        SABiosciences Custom PCR Arrays for PPIB
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PPIB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPIB

    (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 eukaryotes.

    Orthologs for PPIB gene from 10/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppib1 , 5 peptidylprolyl isomerase B1, 5 90.12(n)1
    93.98(a)1
      9 (35.69 cM)5
    190351  NM_011149.21  NP_035279.21 
     660601695 
    chicken
    (Gallus gallus)
    Aves PPIB1 peptidylprolyl isomerase B (cyclophilin B) 80.84(n)
    86.47(a)
      396447  NM_205461.1  NP_990792.1 
    lizard
    (Anolis carolinensis)
    Reptilia PPIB6
    Peptidyl-prolyl cis-trans isomerase
    83(a)
    1 ↔ 1
    GL343490.1(417575-422070)
    African clawed frog
    (Xenopus laevis)
    Amphibia ppib-prov2 peptidylprolyl isomerase B 76.63(n)    BC054168.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa97f082 Danio rerio cDNA clone MGC73214 IMAGE4790964, complete more 79.36(n)    BC059560.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG28521 , 3 peptidyl-prolyl cis-trans isomerase3
    CG28521
    73(a)
    (best of 2)3
    68.17(n)1
    67.5(a)1
      58F33
    375911  NM_137851.31  NP_611695.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cyp-53
    cyn-51
    cyclophillin3
    Protein CYN-51
    71(a)
    (best of 4)3
    63.35(n)1
    67.66(a)1
      I(15048595-15049564)3
    1733741  NM_061223.41  NP_493624.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CPR5(YDR304C)4
    CPR51
    Peptidyl-prolyl cis-trans isomerase (cyclophilin) of more4
    Cpr5p1
    55.85(n)1
    56.38(a)1
      4(1072557-1071880)4
    8518981, 4  NP_010590.31  NP_010590.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G559201 peptidyl-prolyl cis-trans isomerase 61.62(n)
    65.45(a)
      824758  NM_115450.3  NP_567029.1 
    rice
    (Oryza sativa)
    Liliopsida AK104772.12   -- 75.26(n)    AK104772.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PPIB gene
    PPIH2  PPIC2  CWC272  PPWD12  PPIL42  PPIL22  PPIL32  PPIL12  
    18/23 SIMAP similar genes for PPIB using alignment to 1 protein entry:     PPIB_HUMAN(see all similar genes):
    PPIC    PPIA    PPIE    PPIH    LOC402252    RANBP2
    PPIL1    PPIF    PPID    PPIAL4A    PPIAL4B    PPIAL4C
    PPIAL4D    PPIAL4G    PPIG    NKTR    PPWD1    PPIL3

    PPIB for paralogs           About GeneDecksing



    (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

    10/241 SNPs in PPIB are shown (see all 241)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0634364
    Osteogenesis imperfecta 9 (OI9)4--see VAR_0634362 M R mis40--------
    rs1214345591,2
    Cpathogenic144510211(-) GCTCCC/TAGTTC 2 Q * stg10--------
    rs1378538641,2
    Cpathogenic144516370(-) CAACAG/TGAAGG 2 R M mis10--------
    rs287201931,2
    Cuntested144510170(-) GATGGC/GAAGCA 2 G syn15Minor allele frequency- G:0.00NS 188
    rs23072471,2
    C,F,Huntested144513532(-) TTCACC/TAGGGG 2 T syn1 ese312Minor allele frequency- T:0.01NA NS EU 6725
    rs115585951,2,4
    C,F,Huntested144515521(-) GCCGGG/TTGATC 2 V L mis1 ese39Minor allele frequency- T:0.00NS EA NA 762
    rs49041,2
    C,F,Huntested144516333(-) GGGTCC/AGTCTT 2 /S syn1 ese318Minor allele frequency- A:0.02MN EA NS WA NA EU 7035
    rs1818487441,2
    --44508805(+) GTCAGC/GTGGGT 1 -- ds50010--------
    rs38967871,2
    H--44508952(+) ATTTAG/AAGGTA 1 -- ds50015Minor allele frequency- A:0.00MN NS EA 562
    rs1864578931,2
    --44508983(+) ACATCA/CCTTAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PPIB (64448011 - 64455404 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PPIB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833036CNV Loss17160897
    nsv827360CNV Loss20364138


    Human Gene Mutation Database (HGMD): PPIB

    Locus Specific Mutation Databases (LSDB): PPIB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PPIB
    DNA2.0 Custom Variant and Variant Library Synthesis for PPIB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 123841   
    OMIM disorders: 259440  
    UniProtKB/Swiss-Prot: PPIB_HUMAN, P23284
  • Osteogenesis imperfecta 9 (OI9) [MIM:259440]: 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. OI9 is a severe autosomal recessive form of the disorder. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 19 diseases for PPIB:    About MalaCards
    ppib-related osteogenesis imperfecta    osteogenesis imperfecta type 9    dyggve-melchior-clausen syndrome    osteogenesis imperfecta
    syphilis    dentinogenesis imperfecta    dwarfism    connective tissue disease
    nephrotic syndrome    encephalitis    multiple myeloma    myeloma
    hepatitis c    b-cell lymphomas    hepatocellular carcinoma    pancreatic cancer
    hepatitis    pancreatitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for PPIB:
    Osteogenesis imperfecta

    PPIB for disorders           About GeneDecksing

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

    Export disorders for PPIB 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 PPIB gene, integrated from 9 sources (see all 117):
    (articles sorted by number of sources associating them with PPIB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human cyclophilin B: a second cyclophilin gene encodes a peptidyl- prolyl isomerase with a signal sequence. (PubMed id 2000394)1, 2, 3, 9 Price E.R....Walsh C.T. (1991)
    2. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. (PubMed id 20089953)1, 2, 3, 9 Barnes A.M....Marini J.C. (2010)
    3. PPIB mutations cause severe osteogenesis imperfecta. (PubMed id 19781681)1, 2, 9 van Dijk F.S.... Pals G. (2009)
    4. A novel secreted cyclophilin-like protein (SCYLP). (PubMed id 2040592)1, 2, 9 Spik G.... Movva N.R. (1991)
    5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    6. 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)
    7. X-ray structure of a cyclophilin B/cyclosporin complex: comparison with cyclophilin A and delineation of its calcineurin-binding domain. (PubMed id 8197205)1, 2 Mikol V.... Walkinshaw M.D. (1994)
    8. S-cyclophilin is retained intracellularly via a unique COOH-terminal sequence and colocalizes with the calcium storage protein calreticulin. (PubMed id 1530944)1, 2 Arber S.... Caroni P. (1992)
    9. Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes. (PubMed id 1286667)1, 2 Rasmussen H.H....Vandekerckhove J. (1992)
    10. An endoplasmic reticulum-specific cyclophilin. (PubMed id 1710767)1, 2 Hasel K.W.... Sutcliffe J.G. (1991)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 5479 HGNC: 9255 AceView: PPIB Ensembl:ENSG00000166794 euGenes: HUgn5479
    ECgene: PPIB H-InvDB: PPIB

    (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 PPIB Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ppib/
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=PPIB

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

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



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    About This Section

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