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PELI2 Gene

protein-coding   GIFtS: 55
GCID: GC14P056585

Pellino E3 Ubiquitin Protein Ligase Family Member 2

(Previous names: pellino (Drosophila) homolog 2, pellino homolog 2 (Drosophila))
  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
Pellino E3 Ubiquitin Protein Ligase Family Member 21 2     pellino-22
Pellino (Drosophila) Homolog 21     Protein Pellino Homolog 22
Pellino Homolog 2 (Drosophila)1     EC 6.3.2.-3
E3 Ubiquitin-Protein Ligase Pellino Homolog 22     Pellino-23
Pellino Homolog 22     

External Ids:    HGNC: 88281   Entrez Gene: 571612   Ensembl: ENSG000001399467   OMIM: 6147985   UniProtKB: Q9HAT83   

Export aliases for PELI2 gene to outside databases

Previous GC identifers: GC14P053909 GC14P050381 GC14P054575 GC14P055654 GC14P036750


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PELI2 Gene:
PELI2 (pellino E3 ubiquitin protein ligase family member 2) is a protein-coding gene. Diseases associated with PELI2 include ataxia, and obesity. GO annotations related to this gene include ligase activity. An important paralog of this gene is PELI1.

UniProtKB/Swiss-Prot: PELI2_HUMAN, Q9HAT8
Function: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and
TRAF6. Mediates IL1B-induced IRAK1 'Lys-63'-linked polyubiquitination and possibly 'Lys-48'-linked
ubiquitination. May be important for LPS- and IL1B-induced MAP3K7-dependent, but not MAP3K3-dependent, NF-kappa-B
activation. Can activate the MAP (mitogen activated protein) kinase pathway leading to activation of ELK1

Gene Wiki entry for PELI2 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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PELI2 gene promoter:
         E2F-4   E2F-3a   AP-1   ATF-2   E2F-2   NF-kappaB   E2F-1   E2F   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPELI2 promoter sequence
   Search Chromatin IP Primers for PELI2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PELI2


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

Entrez Gene cytogenetic band: 14q21   Ensembl cytogenetic band:  14q22.3   HGNC cytogenetic band: 14q21

PELI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PELI2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P056585:  view genomic region     (about GC identifiers)

Start:
56,584,532 bp from pter      End:
56,768,244 bp from pter
Size:
183,713 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: PELI2_HUMAN, Q9HAT8 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase pellino homolog 2  
Size: 420 amino acids; 46435 Da
Subunit: Interacts with TRAF6, IRAK1, IRAK4 and MAP3K7. Interacts with BCL10; this interaction is impaired by
SOCS3 (By similarity)
2 PDB 3D structures from and Proteopedia for PELI2:
3EGA (3D)        3EGB (3D)    
Secondary accessions: B2RDY5

Explore the universe of human proteins at neXtProt for PELI2: NX_Q9HAT8

Explore proteomics data for PELI2 at MOPED

Post-translational modifications: 

  • Phosphorylated by IRAK1 and IRAK4 enhancing its E3 ligase activity1
  • Ubiquitination2 at Lys164, Lys268
  • Modification sites at PhosphoSitePlus

  • See PELI2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_067078.1  
    ENSEMBL proteins: 
     ENSP00000452666   ENSP00000267460   ENSP00000453988  
    Reactome Protein details: Q9HAT8

    PELI2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PELI2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PELI2
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    Novus Biologicals PELI2 Protein
    Novus Biologicals PELI2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PELI2

    PELI2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for PELI2

    PELI2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for PELI2
    Cloud-Clone Corp. CLIAs for PELI2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PELI: Pellino homologs

    1 InterPro protein domain:
     IPR006800 Pellino_fam

    Graphical View of Domain Structure for InterPro Entry Q9HAT8

    ProtoNet protein and cluster: Q9HAT8

    UniProtKB/Swiss-Prot: PELI2_HUMAN, Q9HAT8
    Domain: The atypical FHA domain contains a 'wing' insert and mediates binding to threonine-phosphorylated IRAK1
    Similarity: Belongs to the pellino family
    Similarity: Contains 1 FHA domain


    PELI2 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: PELI2_HUMAN, Q9HAT8
    Function: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
    Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and
    TRAF6. Mediates IL1B-induced IRAK1 'Lys-63'-linked polyubiquitination and possibly 'Lys-48'-linked
    ubiquitination. May be important for LPS- and IL1B-induced MAP3K7-dependent, but not MAP3K3-dependent, NF-kappa-B
    activation. Can activate the MAP (mitogen activated protein) kinase pathway leading to activation of ELK1

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12860405
    GO:0016874ligase activity IEA--
         
    PELI2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PELI2:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PELI2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PELI2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PELI2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PELI2

    miRNA
    Products:
        
    miRTarBase miRNAs that target PELI2:
    hsa-mir-222-3p (MIRT046700), hsa-mir-151a-5p (MIRT019524), hsa-mir-335-5p (MIRT019058)

    Block miRNA regulation of human, mouse, rat PELI2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PELI2 (see all 89):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-607 hsa-miR-15a hsa-miR-128 hsa-miR-10b* hsa-miR-629* hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidPELI2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PELI2
    Predesigned siRNA for gene silencing in human, mouse, rat PELI2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PELI2

    Clone
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    OriGene clones in human, mouse for PELI2 (see all 7)
    OriGene ORF clones in mouse, rat for PELI2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PELI2 (NM_021255)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PELI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PELI2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PELI2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PELI2


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PELI2 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 PELI2 About    
    See pathways by source

    SuperPathContained pathways About
    1Toll Like Receptor 7/8 (TLR7/8) Cascade
    Toll Like Receptor 9 (TLR9) Cascade0.93
    Toll Like Receptor 7/8 (TLR7/8) Cascade0.69
    TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation0.93
    MyD88 dependent cascade initiated on endosome0.69
    2IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
    IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
    IRAK1 recruits IKK complex0.00
    3Interferon Signaling
    Cytokine Signaling in Immune system0.59
    4Interleukin-1 signaling
    Interleukin-1 signaling0.45
    5Signaling by Interleukins
    Signaling by Interleukins0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for PELI2
        Interleukin-1 signaling
    IRAK1 recruits IKK complex
    IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation


    UniProtKB/Swiss-Prot: PELI2_HUMAN, Q9HAT8
    Pathway: Protein modification; protein ubiquitination


    PELI2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PELI2: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PELI2

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

    Selected Interacting proteins for PELI2 (Q9HAT81, 2, 3 ENSP000002674604) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IRAK1P516171, 2, 3, ENSP000003589974EBI-448407,EBI-358664 MINT-2845029 I2D: score=9 STRING: ENSP00000358997
    IRAK4Q9NWZ31, 3EBI-448407,EBI-448378 I2D: score=5 
    IRAK2O431873, ENSP000002564584I2D: score=2 STRING: ENSP00000256458
    MAP3K7O433183, ENSP000003583354I2D: score=2 STRING: ENSP00000358335
    MYD88Q998363, ENSP000003796254I2D: score=1 STRING: ENSP00000379625
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IDA12804775
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0002755MyD88-dependent toll-like receptor signaling pathway TAS--
    GO:0008063Toll signaling pathway IEA--
    GO:0016567protein ubiquitination IEA--

    PELI2 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 PELI2



    (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 PELI2 gene: 
    NM_021255.2  

    Unigene Cluster for PELI2:

    Pellino E3 ubiquitin protein ligase family member 2
    Hs.657926  [show with all ESTs]
    Unigene Representative Sequence: NM_021255
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000559044 ENST00000267460(uc001xch.3) ENST00000561019
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PELI2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PELI2 (see all 89):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-607 hsa-miR-15a hsa-miR-128 hsa-miR-10b* hsa-miR-629* hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidPELI2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PELI2
    Predesigned siRNA for gene silencing in human, mouse, rat PELI2
    Clone
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    OriGene clones in human, mouse for PELI2 (see all 7)
    OriGene ORF clones in mouse, rat for PELI2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PELI2 (NM_021255)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PELI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PELI2
    Primer
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    OriGene qPCR primer pairs and template standards for PELI2
    OriGene qSTAR qPCR primer pairs in human, mouse for PELI2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PELI2
      QuantiTect SYBR Green Assays in human, mouse, rat PELI2
      QuantiFast Probe-based Assays in human, mouse, rat PELI2

    Additional mRNA sequence: 

    AF302502.1 AK025208.1 AK315727.1 AL133605.1 BC009476.2 

    3 DOTS entries:

    DT.211197  DT.208556  DT.100705418 

    Selected AceView cDNA sequences (see all 80):

    BC009476 AA999896 BE466421 BM069691 BQ002692 AL133605 AL709755 AA905101 
    AI082809 BG546951 BX506279 BX388547 N46512 BG283778 H29959 CD518244 
    BM922825 BM996588 AI080483 AF302502 BQ016066 AI500550 BM996536 BX369819 

    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™, 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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    PELI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAATTGAA
    PELI2 Expression
    About this image


    PELI2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Zeugopod Long Bone
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Pelvic Girdle
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Meckel's Cartilage
     
     Heart (Cardiovascular System)
             Cushion Mesenchymal Cells Endocardium
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    PELI2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PELI2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657926
        Pathway & Disease-focused RT2 Profiler PCR Array including PELI2: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PELI2
    OriGene qSTAR qPCR primer pairs in human, mouse for PELI2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PELI2
    QuantiTect SYBR Green Assays in human, mouse, rat PELI2
    QuantiFast Probe-based Assays in human, mouse, rat PELI2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PELI2

    (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 PELI2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Peli21 , 5 pellino 21, 5 87.03(n)1
    95.47(a)1
      14 (24.60 cM)5
    938341  NM_033602.21  NP_291080.21 
     481208695 
    chicken
    (Gallus gallus)
    Aves PELI21 pellino homolog 2 (Drosophila) 82.05(n)
    95.34(a)
      776013  XM_004936478.1  XP_004936535.1 
    lizard
    (Anolis carolinensis)
    Reptilia PELI26
    pellino E3 ubiquitin protein ligase family member ...
    91(a)
    1 ↔ 1
    GL343651.1(233594-274034)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC756502 hypothetical protein MGC75650 78.06(n)    BC063200.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.128282 Transcribed sequence with weak similarity to protein more 77.94(n)    BI981343.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pli1 , 3 defense response3
    Pellino1
    60(a)3
    61.35(n)1
    61.6(a)1
      428211  NM_001104420.31  NP_001097890.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F25B4.23
    CELE_F25B4.21
    CELE_F25B4.21 42(a)3
    50.29(n)1
    45.84(a)1
      V(5712017-5715093)3
    1789591  NM_072100.51  NP_504501.21 


    ENSEMBL Gene Tree for PELI2 (if available)
    TreeFam Gene Tree for PELI2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PELI2 gene
    PELI12  PELI32  
    2 SIMAP similar genes for PELI2 using alignment to 3 protein entries:     PELI2_HUMAN (see all proteins):
    PELI1    PELI3

    PELI2 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 PELI2 (see all 3999)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1484043521,2
    --36748363(+) AGTCAA/GTCTGA 1 -- us2k10--------
    rs1931502491,2
    C--56583098(+) TGATAA/CAGACA 1 -- us2k10--------
    rs1424968141,2
    --56583100(+) ATAAAA/GACAGA 1 -- us2k10--------
    rs1856009191,2
    --56583202(+) CTAGAC/TGGGGG 1 -- us2k10--------
    rs1885201521,2
    --56583228(+) GGATAA/TCCTAT 1 -- us2k10--------
    rs1931713531,2
    --56583251(+) GCCTAA/GTGCTG 1 -- us2k10--------
    rs71481921,2
    C,F--56583266(+) CTTAGT/CAGGAG 1 -- us2k15Minor allele frequency- C:0.19WA NA EA 362
    rs1850684301,2
    --56583380(+) GCAGGC/TCAAGA 1 -- us2k10--------
    rs773177601,2
    F--56583398(+) AAGGAA/GGTAAT 1 -- us2k10--------
    rs23433741,2
    C,F,A,H--56583421(+) AGCAGG/AAGCAG 1 -- us2k119Minor allele frequency- A:0.18NS EA NA WA CSA 2484

    HapMap Linkage Disequilibrium report for PELI2 (56584532 - 56768244 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PELI2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676142CNV Deletion23128226
    esv1586377CNV Insertion17803354
    esv269796CNV Insertion20981092
    esv989258CNV Insertion20482838
    dgv1940n71CNV Loss21882294
    nsv519617CNV Gain19592680
    esv259417OTHER Complex20981092
    esv259702OTHER Complex20981092

    Site Specific Mutation Identification with PCR Assays
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    (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: 614798    OMIM disorders: --

    3 diseases for PELI2:    
    About MalaCards
    ataxia    obesity    malaria


    PELI2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PELI2
    Human Genome Epidemiology (HuGE) Navigator: PELI2 (1 document)

    Export disorders for PELI2 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 PELI2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with PELI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of Pellino2, a substrate of IRAK1 and IRAK4. (PubMed id 12860405)1, 2, 3 Strelow A.... Wesche H. (FEBS Lett. 2003)
    2. Assignment of homologous genes, Peli1/PELI1 and Peli2/PELI2, for the Pelle adaptor protein Pellino to mouse chromosomes 11 and 14 and human chromosomes 2p13.3 and 14q21, respectively, by physical and radiation hybrid mapping. (PubMed id 11306823)1, 2, 3 Resch K.... Schmitt-John T. (Cytogenet. Cell Genet. 2001)
    3. Pellino 2 is critical for Toll-like receptor/interleukin-1 receptor (TLR/IL-1R)-mediated post-transcriptional control. (PubMed id 22669975)1, 2 Kim T.W.... Li X. (J. Biol. Chem. 2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. The IRAK-catalysed activation of the E3 ligase function of Pellino isoforms induces the Lys63-linked polyubiquitination of IRAK1. (PubMed id 17997719)1, 2 Ordureau A....Cohen P. (Biochem. J. 2008)
    6. Kinase-active interleukin-1 receptor-associated kinases promote polyubiquitination and degradation of the Pellino family: direct evidence for PELLINO proteins being ubiquitin-protein isopeptide ligases. (PubMed id 17675297)1, 2 Butler M.P.... Moynagh P.N. (J. Biol. Chem. 2007)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Pellino2 activates the mitogen activated protein kinase pathway. (PubMed id 12804775)1, 2 Jensen L.E. and Whitehead A.S. (FEBS Lett. 2003)
    9. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. (PubMed id 23192594)1 Velez Edwards D.R....Edwards T.L. (Hum. Genet. 2013)
    10. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)

    (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: 57161 HGNC: 8828 AceView: PELI2 Ensembl:ENSG00000139946 euGenes: HUgn57161
    ECgene: PELI2 H-InvDB: PELI2

    (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 PELI2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PELI2 gene:
    Search GeneIP for patents involving PELI2

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



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