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HECW2 Gene

protein-coding   GIFtS: 55
GCID: GC02M197064

HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase...

  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
HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 21 2     NEDD4-Related E3 Ubiquitin Ligase NEDL22
NEDL22 3     EC 6.3.2.-3
HECT, C2 And WW Domain-Containing Protein 22 3     KIAA13013
NEDD4-Like E3 Ubiquitin-Protein Ligase 22 3     EC 6.3.28
E3 Ubiquitin-Protein Ligase HECW22     

External Ids:    HGNC: 298531   Entrez Gene: 575202   Ensembl: ENSG000001384117   UniProtKB: Q9P2P53   

Export aliases for HECW2 gene to outside databases

Previous GC identifers: GC02M196890 GC02M196772 GC02M188916


(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 HECW2 Gene:
HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) is a protein-coding gene. Diseases associated with HECW2 include liddle syndrome, and endotheliitis. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is NEDD4L.

UniProtKB/Swiss-Prot: HECW2_HUMAN, Q9P2P5
Function: E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance
activation of transcription by TP73




(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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HECW2 gene promoter:
         TBP   C/EBPbeta   AP-1   POU3F1   HEN1   Egr-2   FOXJ2 (long isoform)   FOXO1a   FOXJ2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHECW2 promoter sequence
   Search Chromatin IP Primers for HECW2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HECW2


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

Entrez Gene cytogenetic band: 2q32.3   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q32.3

HECW2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HECW2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M197064:  view genomic region     (about GC identifiers)

Start:
197,059,094 bp from pter      End:
197,458,416 bp from pter
Size:
399,323 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HECW2_HUMAN, Q9P2P5 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase HECW2  
Size: 1572 amino acids; 175769 Da
Subunit: Interacts with TP73
Sequence caution: Sequence=BAA92539.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for HECW2:
2LFE (3D)    
Secondary accessions: B8ZZB4 Q17RT5 Q68DF8 Q9NPS9
Alternative splicing: 2 isoforms:  Q9P2P5-1   Q9P2P5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HECW2: NX_Q9P2P5

Explore proteomics data for HECW2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys183
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HECW2 (Q9P2P5) (see all 6)
     KNKKEYI  NPYYGLF  RLLQFVTG  RTTTWQRPT 


    See HECW2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065811.1  
    ENSEMBL proteins: 
     ENSP00000260983   ENSP00000386775   ENSP00000409918   ENSP00000395770  

    HECW2 Human Recombinant Protein Products:

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    Novus Biologicals HECW2 Protein
    Novus Biologicals HECW2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for HECW2

    HECW2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Cloud-Clone Corp. ELISAs for HECW2
    Cloud-Clone Corp. CLIAs for HECW2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000569 HECT
     IPR001202 WW_dom
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q9P2P5

    ProtoNet protein and cluster: Q9P2P5

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB000569 HECT domain (Ubiquitin-protein ligase)


    UniProtKB/Swiss-Prot: HECW2_HUMAN, Q9P2P5
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 2 WW domains


    HECW2 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: HECW2_HUMAN, Q9P2P5
    Function: E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance
    activation of transcription by TP73

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
    GO:0005515protein binding ----
         
    HECW2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HECW2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HECW2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HECW2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HECW2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HECW2

    miRNA
    Products:
        
    miRTarBase miRNAs that target HECW2:
    hsa-mir-122-5p (MIRT023380)

    Block miRNA regulation of human, mouse, rat HECW2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HECW2 (see all 58):
    hsa-miR-142-5p hsa-miR-520f hsa-miR-301a hsa-miR-449a hsa-miR-548l hsa-miR-9 hsa-miR-556-3p hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidHECW2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HECW2
    Predesigned siRNA for gene silencing in human, mouse, rat HECW2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for HECW2 (see all 6)
    OriGene ORF clones in mouse, rat for HECW2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HECW2 (NM_020760)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HECW2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HECW2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HECW2
    Browse ESI BIO Cell Lines and PureStem Progenitors for HECW2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECW2


    (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
    HECW2_HUMAN, Q9P2P5: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    nucleus3
    cytosol2
    endoplasmic reticulum1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm IBA--

    HECW2 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 HECW2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    2SMAD Signaling Network
    SMAD Signaling Network

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HECW2
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis


    UniProtKB/Swiss-Prot: HECW2_HUMAN, Q9P2P5
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HECW2: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HECW2

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

    Selected Interacting proteins for HECW2 (Q9P2P52, 3 ENSP000002609834) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP73O153503, ENSP000003675454I2D: score=2 STRING: ENSP00000367545
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    FBXL15Q9H4692, ENSP000002248624MINT-8298383 STRING: ENSP00000224862
    DVL2O146413I2D: score=1 
    DUS2ENSP000003517694STRING: ENSP00000351769
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA--

    HECW2 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 HECW2



    (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,
    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 HECW2 gene: 
    NM_020760.1  

    Unigene Cluster for HECW2:

    HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
    Hs.654742  [show with all ESTs]
    Unigene Representative Sequence: AB037722
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260983(uc002utm.1) ENST00000409111(uc002utl.1) ENST00000498146
    ENST00000462290 ENST00000452031 ENST00000427457
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HECW2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HECW2 (see all 58):
    hsa-miR-142-5p hsa-miR-520f hsa-miR-301a hsa-miR-449a hsa-miR-548l hsa-miR-9 hsa-miR-556-3p hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidHECW2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HECW2
    Predesigned siRNA for gene silencing in human, mouse, rat HECW2
    Clone
    Products:
         
    OriGene clones in human, mouse for HECW2 (see all 6)
    OriGene ORF clones in mouse, rat for HECW2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HECW2 (NM_020760)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HECW2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HECW2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HECW2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HECW2
      QuantiTect SYBR Green Assays in human, mouse, rat HECW2
      QuantiFast Probe-based Assays in human, mouse, rat HECW2

    Additional mRNA sequence: 

    AB037722.1 AK126991.1 AL390186.1 BC117194.1 BC117198.1 CR749424.1 

    8 DOTS entries:

    DT.410096  DT.121003141  DT.101956651  DT.75125441  DT.102822166  DT.121003136  DT.121003138  DT.65287027 

    Selected AceView cDNA sequences (see all 55):

    T47747 AI637981 AA581426 F11713 F09371 AI991529 BI255575 T47748 
    AA807184 F09383 BF665534 R57047 AB037722 CR749424 BX117279 BF000212 
    AA411641 BU567882 AA830593 BV188547 BM351932 AK126991 BM352245 BU852720 

    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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    HECW2 expression in normal human tissues (normalized intensities)      HECW2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATACAAGTA
    HECW2 Expression
    About this image


    HECW2 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
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Heart (Cardiovascular System)
             Endocardial Tube Cells Endocardium
    HECW2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HECW2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654742

    UniProtKB/Swiss-Prot: HECW2_HUMAN, Q9P2P5
    Tissue specificity: Predominantly expressed in adult brain, lung and heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HECW2: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HECW2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HECW2
    QuantiTect SYBR Green Assays in human, mouse, rat HECW2
    QuantiFast Probe-based Assays in human, mouse, rat HECW2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECW2

    (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 HECW2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hecw21 , 5 HECT, C2 and WW domain containing E3 ubiquitin protein more1, 5 89.41(n)1
    95.23(a)1
      1 (26.99 cM)5
    3291521  NM_001001883.31  NP_001001883.11 
     538111755 
    chicken
    (Gallus gallus)
    Aves HECW21 HECT, C2 and WW domain containing E3 ubiquitin protein more 78.82(n)
    87.12(a)
      424050  XM_421906.4  XP_421906.2 
    lizard
    (Anolis carolinensis)
    Reptilia HECW26
    HECT, C2 and WW domain containing E3 ubiquitin pro...
    84(a)
    1 ↔ 1
    GL343280.1(488184-783114)
    zebrafish
    (Danio rerio)
    Actinopterygii hecw21 HECT, C2 and WW domain containing E3 ubiquitin protein more 70.61(n)
    78.57(a)
      100331355  XM_003197612.2  XP_003197660.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427976
    --
    41(a)
    1 → many
    X(9502979-9517276)
    worm
    (Caenorhabditis elegans)
    Secernentea hecw-16
    Protein HECW-1 (hecw-1) mRNA, complete cds
    32(a)
    1 → many
    III(3377408-3384170) WBGene00009738


    ENSEMBL Gene Tree for HECW2 (if available)
    TreeFam Gene Tree for HECW2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HECW2 gene
    NEDD4L2  AREL12  UBR52  WWP22  SMURF22  HECW12  SMURF12  HUWE12  
    NEDD42  WWP12  ITCH2  
    9 SIMAP similar genes for HECW2 using alignment to 3 protein entries:     HECW2_HUMAN (see all proteins):
    DKFZp564H223    NEDL1    HECW1    SMURF1    HUWE1    SMURF2
    ITCH    WWP2    WWP1

    HECW2 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 HECW2 (see all 7539)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1398711561,2
    --188916342(+) GGCTG-/GTTTTT
            
    TTTTG
    1 -- cds10--------
    rs1842888501,2
    C--188916400(+) GATAAA/GTACAT 1 -- ds50010--------
    rs1886318331,2
    --188916579(+) TACCTA/CATAAT 1 -- ds50010--------
    rs1817483541,2
    --188916644(+) GAATGC/TATTTT 1 -- ds50010--------
    rs1423285551,2
    --188916688(+) GAATGC/GCAGCC 1 -- ds50010--------
    rs1845425311,2
    --188916702(+) AAACAC/TCTTGT 1 -- ds50010--------
    rs1408314331,2
    C--188916729(+) GACTT-/AAAAAA 1 -- ds50010--------
    rs1900798431,2
    --188916793(+) GTTTGC/TAAAAT 1 -- ut310--------
    rs107821,2
    C,F--188916959(-) GGCACG/ATACTG 1 -- ut31 ese33Minor allele frequency- A:0.02MN CSA NA 306
    rs1512654431,2
    C--188916960(+) AGTACA/GTGCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for HECW2 (197059094 - 197309094 bp, first 250kb of HECW2)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for HECW2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721335CNV Deletion23290073
    esv2671294CNV Deletion23128226
    nsv3095CNV Insertion18451855
    nsv507058CNV Insertion20534489
    esv269040CNV Insertion20981092
    nsv834504CNV Loss17160897
    nsv875693CNV Loss21882294

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for HECW2:    About MalaCards
    liddle syndrome    endotheliitis    malaria


    HECW2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HECW2
    Human Genome Epidemiology (HuGE) Navigator: HECW2 (1 document)

    Export disorders for HECW2 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 HECW2 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with HECW2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity. (PubMed id 12890487)1, 2, 3, 9 Miyazaki K.... Nakagawara A. (Biochem. Biophys. Res. Commun. 2003)
    2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    3. 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)
    4. 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)
    5. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. SCF(FBXL15) regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1. (PubMed id 21572392)1 Cui Y.... Zhang L. (EMBO J. 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. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 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: 57520 HGNC: 29853 AceView: NEDL2 Ensembl:ENSG00000138411 euGenes: HUgn57520
    ECgene: HECW2 H-InvDB: HECW2

    (According to HUGE)
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    HUGE: KIAA1301

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HECW2 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 HECW2 gene:
    Search GeneIP for patents involving HECW2

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



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