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PPIL2 Gene

protein-coding   GIFtS: 66
GCID: GC22P022006

Peptidylprolyl Isomerase (Cyclophilin)-Like 2

  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
Peptidylprolyl Isomerase (Cyclophilin)-Like 21 2     Cyp-602
U-Box Domain Containing 71 2     UBOX72
Cyclophilin-Like Protein Cyp-602 3     Cyclophilin, 60kDa2
Rotamase PPIL22 3     cyclophilin-602
PPIase2 3     hCyP-602
EC 5.2.1.83 8     Peptidyl-Prolyl Cis-Trans Isomerase-Like 22
CYP602 5     Peptidylprolyl Cis-Trans Isomerase2
CYC42     Cyclophilin-603

External Ids:    HGNC: 92611   Entrez Gene: 237592   Ensembl: ENSG000001000237   OMIM: 6075885   UniProtKB: Q133563   

Export aliases for PPIL2 gene to outside databases

Previous GC identifers: GC22P018719 GC22P020344 GC22P004978


(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 PPIL2 Gene:
This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly
conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by
cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and
is localized in the nucleus. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PPIL2 Gene:
PPIL2 (peptidylprolyl isomerase (cyclophilin)-like 2) is a protein-coding gene. Diseases associated with PPIL2 include hiv-1, and pneumonia. GO annotations related to this gene include ubiquitin-protein ligase activity and ubiquitin-ubiquitin ligase activity. An important paralog of this gene is PPIH.

UniProtKB/Swiss-Prot: PPIL2_HUMAN, Q13356
Function: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic
peptide bonds in oligopeptides

Gene Wiki entry for PPIL2 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_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPIL2 gene promoter:
         SRF   NF-1/L   NF-1   AML1a   SRF (504 AA)   HNF-4alpha2   HNF-4alpha1   E47   PPAR-alpha   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPIL2 promoter sequence
   Search Chromatin IP Primers for PPIL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPIL2


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

PPIL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPIL2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P022006:  view genomic region     (about GC identifiers)

Start:
22,006,559 bp from pter      End:
22,054,304 bp from pter
Size:
47,746 bases      Orientation:
plus 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: PPIL2_HUMAN, Q13356 (See protein sequence)
Recommended Name: Peptidyl-prolyl cis-trans isomerase-like 2  
Size: 520 amino acids; 58823 Da
1 PDB 3D structure from and Proteopedia for PPIL2:
1ZKC (3D)    
Secondary accessions: Q13357 Q8TAH2 Q9BWR8
Alternative splicing: 2 isoforms:  Q13356-1   Q13356-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PPIL2: NX_Q13356

Explore proteomics data for PPIL2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys82, Lys166
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PPIL2 (Q13356) (see all 6)
     GDPTGTG  GILSMAN  PKTCENF  DIITLQDP 


    See PPIL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_055152.1  NP_680480.1  NP_680481.1  

    ENSEMBL proteins: 
     ENSP00000334553   ENSP00000381812   ENSP00000395181   ENSP00000406745   ENSP00000384299  
     ENSP00000390427   ENSP00000396228   ENSP00000445312  
    Reactome Protein details: Q13356

    PPIL2 Human Recombinant Protein Products:

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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:
    UBOX: U-box domain containing

    Selected InterPro protein domains (see all 6):
     IPR003613 Ubox_domain
     IPR002130 Cyclophilin-type_PPIase_dom
     IPR013083 Znf_RING/FYVE/PHD
     IPR027799 Rtf2_RING-finger
     IPR026951 PPIL2

    Graphical View of Domain Structure for InterPro Entry Q13356

    ProtoNet protein and cluster: Q13356

    2 Blocks protein domains:
    IPB002130 Peptidyl-prolyl cis-trans isomerase
    IPB003613 Zn-finger


    UniProtKB/Swiss-Prot: PPIL2_HUMAN, Q13356
    Similarity: Belongs to the cyclophilin-type PPIase family. PPIL2 subfamily
    Similarity: Contains 1 PPIase cyclophilin-type domain
    Similarity: Contains 1 U-box domain


    PPIL2 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: PPIL2_HUMAN, Q13356
    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)

         Genatlas biochemistry entry for PPIL2:
    peptidylprolyl isomerase (cyclophilin)-like 2

         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 IEA--
    GO:0004842ubiquitin-protein ligase activity IDA11435423
    GO:0005515protein binding IPI--
    GO:0034450ubiquitin-ubiquitin ligase activity IDA11435423
         
    PPIL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PPIL2:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    miRNA
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    hsa-mir-15b-5p (MIRT046489), hsa-mir-31-5p (MIRT049857)

    Block miRNA regulation of human, mouse, rat PPIL2 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate PPIL2:
    hsa-miR-4316 hsa-miR-320a hsa-miR-1294 hsa-miR-320b hsa-miR-9* hsa-miR-320d hsa-miR-1253
    SwitchGear 3'UTR luciferase reporter plasmidPPIL2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PPIL2

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    (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
    PPIL2_HUMAN, Q13356: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    golgi apparatus4
    cytosol2
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IEA--
    GO:0005634nucleus TAS8660300
    GO:0005730NOT nucleolus IDA--
    GO:0005796Golgi lumen TAS--

    PPIL2 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 PPIL2 About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    3Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall
    4Basigin interactions
    Basigin interactions

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for PPIL2
        Basigin interactions


    1 Kegg Pathway  (Kegg details for PPIL2):
        Ubiquitin mediated proteolysis


    PPIL2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PPIL2
    Interactions:

        GeneGlobe Interaction Network for PPIL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for PPIL2 (Q133561, 2, 3 ENSP000003904274) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF830Q96NB31, 2, ENSP000003545184EBI-7705988,EBI-3920997 MINT-8337596 MINT-8332141 STRING: ENSP00000354518
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    BSGP356133, ENSP000003337694I2D: score=2 STRING: ENSP00000333769
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA11435423
    GO:0006457protein folding IEA--
    GO:0007596blood coagulation TAS--
    GO:0016567protein ubiquitination ----
    GO:0050900leukocyte migration TAS--

    PPIL2 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 PPIL2



    (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 PPIL2 gene (3 alternative transcripts): 
    NM_014337.3  NM_148175.2  NM_148176.2  

    Unigene Cluster for PPIL2:

    Peptidylprolyl isomerase (cyclophilin)-like 2
    Hs.438587  [show with all ESTs]
    Unigene Representative Sequence: AK127259
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498589 ENST00000496819 ENST00000335025(uc002zvi.4 uc011aij.2)
    ENST00000398831 ENST00000458567 ENST00000417788(uc002zvg.4 uc002zvk.4)
    ENST00000484439 ENST00000406385 ENST00000498109 ENST00000485930 ENST00000446951
    ENST00000462188 ENST00000412327(uc002zvh.4) ENST00000456792 ENST00000492445(uc010gtj.1)

    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate PPIL2:
    hsa-miR-4316 hsa-miR-320a hsa-miR-1294 hsa-miR-320b hsa-miR-9* hsa-miR-320d hsa-miR-1253
    SwitchGear 3'UTR luciferase reporter plasmidPPIL2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF320072.1 AK097249.1 AK127259.1 AK289545.1 AK299206.1 BC000022.2 BC028385.2 CR456548.1 
    U37219.1 U37220.1 U37221.1 

    23 DOTS entries:

    DT.100660517  DT.100724398  DT.100031055  DT.100660513  DT.100660518  DT.417942  DT.120645714  DT.100852344 
    DT.100851485  DT.206198  DT.95096962  DT.100031054  DT.100848219  DT.99979971  DT.95079827  DT.95332725 
    DT.100660511  DT.100660514  DT.100808077  DT.120645747  DT.120645750  DT.91805490  DT.120645726 

    Selected AceView cDNA sequences (see all 349):

    BU621645 BF434586 BM811514 BM799027 CR611119 BF196098 AA764973 BQ682657 
    AA777398 BM454952 AW593722 CB960743 BM476342 BC000022 AA743164 BM854613 
    BX500302 AI089490 BQ683552 CR456548 BQ016198 BQ880912 AI652249 CB989296 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PPIL2 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19a ·
    SP1:                          -                                                                                         -                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                          -                                                                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 19b · 19c ^ 20 ^ 21a · 21b · 21c · 21d · 21e ^ 22a · 22b · 22c
    SP1:        -                                                         
    SP2:        -           -                                             
    SP3:        -           -                                             
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for PPIL2

    (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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    PPIL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGACCGTC
    PPIL2 Expression
    About this image

    PPIL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPIL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438587

    UniProtKB/Swiss-Prot: PPIL2_HUMAN, Q13356
    Tissue specificity: Highest expression in thymus, pancreas and testis. Also detected in heart, placenta, lung,
    liver, skeletal muscle, kidney, spleen, prostate, ovary, small intestine and colon. Poorly detected in brain and
    leukocytes. Strong protein expression in lymph node (cortical, paracortical and medullar regions), thyroid
    (follicular epithelial cells), testis (developing spermatozoa), stomach (cells lining the gastric pit), pancreas,
    kidney (proximal and distal-tubule cells and collecting duct cells but not in glomeruli), endometrium and colon
    (goblet cells). Moderate protein expression in spleen, prostate (epithelium and squamous cell carcinomas),
    placenta and adrenal gland. Weak protein expression in liver, heart, breast, ovary, and lung. No protein
    expression in brain and bladder. High protein expression in most lymphomas and melanomas

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    In Situ
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    (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 eukaryotes.

    Orthologs for PPIL2 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppil21 , 5 peptidylprolyl isomerase (cyclophilin)-like 21, 5 85.83(n)1
    90.38(a)1
      16 (10.59 cM)5
    660531  NM_001252445.11  NP_001239374.11 
     170865555 
    chicken
    (Gallus gallus)
    Aves PPIL21 peptidylprolyl isomerase (cyclophilin)-like 2 74.9(n)
    83.4(a)
      416775  NM_001030653.1  NP_001025824.1 
    lizard
    (Anolis carolinensis)
    Reptilia PPIL26
    peptidylprolyl isomerase (cyclophilin)-like 2
    79(a)
    1 ↔ 1
    GL343282.1(1353936-1411983)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC530462 similar to peptidylprolyl isomerase (cyclophilin)-like more 72.45(n)    BC044993.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc566162 similar to peptidylprolyl isomerase (cyclophilin)-like more 78.05(n)   393966  BC049506.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77471 , 3 cyclophilin-type peptidy-prolyl
    cis-trans isomerase3
    CG77471
    53(a)
    (best of 2)3
    59.78(n)1
    54.78(a)1
      53A53
    368201  NM_137269.31  NP_611113.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cyp-103
    cyn-41
    Cyclophilin3
    cyn-41
    56(a)
    (best of 2)3
    53.03(n)1
    50.29(a)1
      II(6912605-6913293)3
    1746741  NM_063936.61  NP_496337.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CPR56
    CPR26
    Peptidyl-prolyl cis-trans isomerase (cyclophilin) ...
    Peptidyl-prolyl cis-trans isomerase (cyclophilin),...
    33(a)
    33(a)
    many ↔ many
    many ↔ many
    IV(1071880-1072557) YDR304C
    VIII(218226-218843) YHR057C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PUB491 PUB49 51.84(n)
    47.96(a)
      836889  NM_126153.3  NP_201554.1 
    rice
    (Oryza sativa)
    Liliopsida Os.269472 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.28(n)    AK102337.1 


    ENSEMBL Gene Tree for PPIL2 (if available)
    TreeFam Gene Tree for PPIL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PPIL2 gene
    PPIH2  PPIC2  PPIB2  CWC272  PPWD12  PPIL42  PPIL32  PPIL12  
    18 SIMAP similar genes for PPIL2 using alignment to 4 protein entries:     PPIL2_HUMAN (see all proteins):
    PPIL1    PPIL3    PPIA    PPIE    PPIF    PPIH
    PPIB    PPIC    PPID    PPIAL4A    PPIAL4B    PPIAL4C
    PPIAL4D    PPIAL4G    PPIG    DKFZp686G0426    NKTR    LOC402252

    PPIL2 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), 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 PPIL2 (see all 993)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1499917251,2
    C--5964721(+) ACCTA-/GAGAAT
            
    AAGAA
    1 -- us2k10--------
    rs1913944351,2
    C--5964898(+) TGAGGC/TGGGAG 1 -- us2k10--------
    rs1808948731,2
    --5964899(+) GAGGCA/GGGAGG 1 -- us2k10--------
    rs1858999921,2
    --5964988(+) CAGGCA/GTGGTG 1 -- us2k10--------
    rs1920373281,2
    --5964996(+) GTGGCA/GCATGC 1 -- us2k10--------
    rs1839244721,2
    --5965283(+) TGTCTC/TGGCCT 1 -- us2k10--------
    rs8618361,2
    C--5965302(+) gctggC/Aattac 1 -- us2k12Minor allele frequency- A:0.25NA 4
    rs1878036541,2
    --5965410(+) TGATCC/TGCCTG 1 -- us2k10--------
    rs1112404261,2
    F--5965416(+) GCCTGT/CCTCAG 1 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs1136268341,2
    F--5965436(+) GTGCTG/AGGATT 1 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for PPIL2 (22006559 - 22054304 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PPIL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528344CNV Loss19592680
    dgv4882n71CNV Loss21882294
    nsv914458CNV Loss21882294
    nsv510804CNV Loss20534489
    dgv4881n71CNV Loss21882294
    nsv7350OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PPIL2
    DNA2.0 Custom Variant and Variant Library Synthesis for PPIL2

    (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: 607588    OMIM disorders: --

    8 diseases for PPIL2:    
    About MalaCards
    hiv-1    pneumonia    tuberculosis    squamous cell carcinoma
    thyroiditis    melanoma    alzheimer's disease    prostatitis


    PPIL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PPIL2
    Human Genome Epidemiology (HuGE) Navigator: PPIL2 (1 document)

    Export disorders for PPIL2 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 PPIL2 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with PPIL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation in RTN3 and PPIL2 genes does not influence platelet membrane beta-secretase activity or susceptibility to alzheimer's disease in the northern Irish population. (PubMed id 19669607)1, 4 Carson R....Johnston J.A. (Neuromolecular Med. 2009)
    2. 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)
    3. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    4. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 3 Dunham I.... Wright H. (Nature 1999)
    5. Identification of a nuclear-specific cyclophilin which interacts with the proteinase inhibitor eglin c. (PubMed id 8660300)1, 2 Wang B.B.... Fisher J.M. (Biochem. J. 1996)
    6. Dynamic protein-protein interaction wiring of the human spliceosome. (PubMed id 22365833)1 Hegele A....Stelzl U. (Mol. Cell 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (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: 23759 HGNC: 9261 AceView: PPIL2 Ensembl:ENSG00000100023 euGenes: HUgn23759
    ECgene: PPIL2 Kegg: 23759 H-InvDB: PPIL2

    (According to HUGE)
    About This Section

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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 PPIL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PPIL2 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 PPIL2 gene:
    Search GeneIP for patents involving PPIL2

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



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