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UBE2D4 Gene

protein-coding   GIFtS: 60
GCID: GC07P043966

Ubiquitin-Conjugating Enzyme E2D 4 (Putative)

  See related disease
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
Ubiquitin-Conjugating Enzyme E2D 4 (Putative)1 2     EC 6.3.2.193 8
Ubiquitin Carrier Protein D42 3     Ubiquitin-Conjugating Enzyme E2 D42
Ubiquitin-Protein Ligase D42 3     Ubiquitin-Conjugating Enzyme HBUCE12
HBUCE12 3     UBCH5D3

External Ids:    HGNC: 216471   Entrez Gene: 516192   Ensembl: ENSG000000789677   UniProtKB: Q9Y2X83   

Export aliases for UBE2D4 gene to outside databases

Previous GC identifers: GC07P043740 GC07P043932


(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 UBE2D4 Gene:
UBE2D4 (ubiquitin-conjugating enzyme E2D 4 (putative)) is a protein-coding gene. Diseases associated with UBE2D4 include muscular atrophy. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is UBE2D3.

UniProtKB/Swiss-Prot: UB2D4_HUMAN, Q9Y2X8
Function: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro
able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11' and
'Lys-48'-linked polyubiquitination




(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_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBE2D4 gene promoter:
         AML1a   C/EBPalpha   E47   CREB   CHOP-10   USF-1   deltaCREB   Zic1   Pax-4a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBE2D4 promoter sequence
   Search Chromatin IP Primers for UBE2D4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBE2D4


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

Entrez Gene cytogenetic band: 7p13   Ensembl cytogenetic band:  7p13   HGNC cytogenetic band: 7p13

UBE2D4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBE2D4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P043966:  view genomic region     (about GC identifiers)

Start:
43,966,035 bp from pter      End:
43,995,735 bp from pter
Size:
29,701 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 44,005,536-44,035,229     

(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: UB2D4_HUMAN, Q9Y2X8 (See protein sequence)
Recommended Name: Ubiquitin-conjugating enzyme E2 D4  
Size: 147 amino acids; 16649 Da
Secondary accessions: A4D1V0

Explore the universe of human proteins at neXtProt for UBE2D4: NX_Q9Y2X8

Explore proteomics data for UBE2D4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys144
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UBE2D4 (Q9Y2X8) (see all 12)
     DREKYNR  CSAGPVG  TKIYHPN  YPFKPPK 


    See UBE2D4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057067.1  
    ENSEMBL proteins: 
     ENSP00000391678   ENSP00000401824   ENSP00000407196   ENSP00000222402   ENSP00000410897  
     ENSP00000411738   ENSP00000414331   ENSP00000397406   ENSP00000406583   ENSP00000442350  
     ENSP00000378277  
    Reactome Protein details: Q9Y2X8

    UBE2D4 Human Recombinant Protein Products:

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    Novus Biologicals UBE2D4 Proteins
    Novus Biologicals UBE2D4 Lysate
    Sino Biological Recombinant Protein for UBE2D4
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for UBE2D4
    Cloud-Clone Corp. Proteins for UBE2D4

    UBE2D4 Antibody Products:

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    Cloud-Clone Corp. CLIAs for UBE2D4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBE2: Ubiquitin-conjugating enzymes E2

    3 InterPro protein domains:
     IPR023313 UBQ-conjugating_AS
     IPR000608 UBQ-conjugat_E2
     IPR016135 UBQ-conjugating_enzyme/RWD

    Graphical View of Domain Structure for InterPro Entry Q9Y2X8

    ProtoNet protein and cluster: Q9Y2X8

    1 Blocks protein domain: IPB000608 Ubiquitin-conjugating enzymes

    UniProtKB/Swiss-Prot: UB2D4_HUMAN, Q9Y2X8
    Similarity: Belongs to the ubiquitin-conjugating enzyme family


    UBE2D4 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: UB2D4_HUMAN, Q9Y2X8
    Function: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro
    able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11' and
    'Lys-48'-linked polyubiquitination
    Catalytic activity: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine

         Enzyme Number (IUBMB): EC 6.3.2.191 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005515protein binding IPI15231748
    GO:0005524ATP binding IEA--
    GO:0016881acid-amino acid ligase activity ----
         
    UBE2D4 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for UBE2D4:
     Increased cell death HMECs cel  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBE2D4
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    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate UBE2D4:
    hsa-miR-182 hsa-miR-593* hsa-miR-29a* hsa-miR-1271 hsa-miR-216a hsa-miR-1257 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidUBE2D4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UBE2D4
    Predesigned siRNA for gene silencing in human, mouse, rat UBE2D4

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for UBE2D4
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    GenScript: all cDNA clones in your preferred vector: UBE2D4 (NM_015983)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBE2D4

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBE2D4


    (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
    cytosol3
    nucleus2
    extracellular1

    (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 UBE2D4 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for UBE2D4
        Antigen processing: Ubiquitination & Proteasome degradation


    2 Kegg Pathways  (Kegg details for UBE2D4):
        Ubiquitin mediated proteolysis
    Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: UB2D4_HUMAN, Q9Y2X8
    Pathway: Protein modification; protein ubiquitination


    UBE2D4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UBE2D4
    Interactions:

        Search GeneGlobe Interaction Network for UBE2D4

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

    Selected Interacting proteins for UBE2D4 (Q9Y2X81, 2, 3 ENSP000002224024) via UniProtKB, MINT, STRING, and/or I2D (see all 282)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000224994Q9HCM92, 3, ENSP000004119494MINT-67140 I2D: score=5 STRING: ENSP00000411949
    ENSG00000232839Q9HCM92, 3, ENSP000003983554MINT-67140 I2D: score=5 STRING: ENSP00000398355
    ENSG00000206495Q9HCM92, 3MINT-67140 I2D: score=5 
    ENSG00000226437Q9HCM92, 3MINT-67140 I2D: score=5 
    ENSG00000229929Q9HCM92, 3MINT-67140 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035519protein K29-linked ubiquitination IDA--
    GO:0044314protein K27-linked ubiquitination IDA--
    GO:0070534protein K63-linked ubiquitination IDA--
    GO:0070936protein K48-linked ubiquitination IDA--
    GO:0070979protein K11-linked ubiquitination IDA--

    UBE2D4 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 UBE2D4 (UB2D4)

    4 HMDB Compounds for UBE2D4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (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 UBE2D4 gene: 
    NM_015983.3  

    Unigene Cluster for UBE2D4:

    Ubiquitin-conjugating enzyme E2D 4 (putative)
    Hs.19196  [show with all ESTs]
    Unigene Representative Sequence: NM_015983
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450743 ENST00000454350 ENST00000443780 ENST00000222402(uc003tja.2 uc003tjb.2)
    ENST00000440899 ENST00000454428 ENST00000415051 ENST00000446008 ENST00000440652
    ENST00000473007 ENST00000491770 ENST00000394798
    miRNA
    Products:
         
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    7 qRT-PCR Assays for microRNAs that regulate UBE2D4:
    hsa-miR-182 hsa-miR-593* hsa-miR-29a* hsa-miR-1271 hsa-miR-216a hsa-miR-1257 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidUBE2D4 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for UBE2D4
    Predesigned siRNA for gene silencing in human, mouse, rat UBE2D4
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBE2D4 (NM_015983)
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    Primer
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    OriGene qPCR primer pairs and template standards for UBE2D4
    OriGene qSTAR qPCR primer pairs in human, mouse for UBE2D4
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat UBE2D4
      QuantiTect SYBR Green Assays in human, mouse, rat UBE2D4
      QuantiFast Probe-based Assays in human, mouse, rat UBE2D4

    Additional mRNA sequence: 

    AF125044.1 AF125045.1 AK001446.1 AK056566.1 BC004104.2 

    16 DOTS entries:

    DT.100019767  DT.80102034  DT.91830044  DT.100776196  DT.121041056  DT.100776192  DT.100776194  DT.405831 
    DT.114072  DT.100776195  DT.95370728  DT.91691670  DT.97847498  DT.100804099  DT.114726  DT.91746835 

    Selected AceView cDNA sequences (see all 199):

    BM666345 AK001446 CA309613 BI908286 AI359316 BE327166 AA737986 AF125045 
    BX093978 AI097000 Z41304 BQ892318 AA350152 CR608137 CB115002 BQ931663 
    AL712391 BM702851 NM_015983 AI692752 BC004104 AL548172 CB145312 BE855796 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UBE2D4 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c · 8d · 8e
    SP1:                          -                       -     -           -     -                                       
    SP2:                          -                             -           -     -                                       
    SP3:                                                  -     -                                                         
    SP4:                          -           -           -     -           -     -                                       
    SP5:                          -           -     -     -     -           -     -                                       


    ECgene alternative splicing isoforms for UBE2D4

    (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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    UBE2D4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACTCCATT
    UBE2D4 Expression
    About this image

    UBE2D4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBE2D4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.19196
        Custom PCR Arrays for UBE2D4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for UBE2D4
    OriGene qSTAR qPCR primer pairs in human, mouse for UBE2D4
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat UBE2D4
    QuantiTect SYBR Green Assays in human, mouse, rat UBE2D4
    QuantiFast Probe-based Assays in human, mouse, rat UBE2D4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBE2D4

    (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 UBE2D4 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ube2dnl25
    Ube2d2b1
    RIKEN cDNA 4930524E20 gene5
    ubiquitin-conjugating enzyme E2D 2B1
    76.19(n)1
    87.07(a)1
      X (49.47 cM)5
    733181  NM_001276397.11  NP_001263326.11 
     1149075825 
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ093232.12   -- 83.37(n)    BJ093232.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ube2d41 ubiquitin-conjugating enzyme E2D 4 (putative) 82.09(n)
    99.32(a)
      100001914  NM_001089453.1  NP_001082922.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F52C6.126
    Protein F52C6.12 (F52C6.12) mRNA, complete cds
    71(a)
    many ↔ many
    II(1929149-1929953) WBGene00018669
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UBC111 UBC11 69.84(n)
    79.59(a)
      820016  NM_001202912.1  NP_001189841.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g08194001 Os01g0819400 69.84(n)
    79.59(a)
      4327450  NM_001051175.2  NP_001044640.2 


    ENSEMBL Gene Tree for UBE2D4 (if available)
    TreeFam Gene Tree for UBE2D4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBE2D4 gene
    UBE2D32  UBE2L62  UBE2D12  UBE2D22  UBE2E32  UBE2L32  UBE2E12  UBE2E22  
    Selected SIMAP similar genes for UBE2D4 using alignment to 8 protein entries:     UB2D4_HUMAN (see all proteins) (see all similar genes):
    UBE2D2    UBE2D1    UBE2D3    UBE2E3    UBE2E1    HR6A
    UBE2DNL    UBE2A    UBE2B    UBE2L3    UBE2M    UBE2E2
    UBE2H    UBE2K    UBE2N    UBE2G2    UBE2NL    UBE2C

    UBE2D4 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for UBE2D4 (see all 6)
    PGOHUM00000242170 PGOHUM00000244261 PGOHUM00000244265 PGOHUM00000263274 PGOHUM00000263279


    (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 UBE2D4 (see all 243)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs25277851,2
    C,F--43968001(-) GAGATC/TCTGTA 1 -- int13Minor allele frequency- T:0.06WA NA EA 358
    rs569246661,2
    C--43968020(+) TTTTT-/TAAATA 1 -- int10--------
    rs112962191,2
    C--43968021(+) GACTCT/-TTTTT 1 -- int1 trp31Minor allele frequency- -:0.50CSA 2
    rs1854568021,2
    --43968176(+) GTGGCC/TGGAAG 1 -- int10--------
    rs769950981,2
    C--43968207(+) GGCTGG/TTGTGA 1 -- int10--------
    rs1160361931,2
    C,F--43968274(+) GCAGTG/ACCTGG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1463194921,2
    --43968393(+) AGGATA/GGGGAA 1 -- int10--------
    rs1891281391,2
    --43968700(+) AACTGA/GGCAAC 1 -- int10--------
    rs788736481,2
    F--43968707(+) CAACAC/TAGCAA 1 -- int11Minor allele frequency- T:0.05WA 118
    rs1931255621,2
    --43968745(+) ATGGCC/TGGGTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for UBE2D4 (43966035 - 43995735 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for UBE2D4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830980CNV Loss17160897
    nsv428165CNV Gain18775914
    dgv2079e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): UBE2D4
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing UBE2D4
    DNA2.0 Custom Variant and Variant Library Synthesis for UBE2D4

    (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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    1 disease for UBE2D4:    
    About MalaCards
    muscular atrophy


    UBE2D4 for disorders           About GeneDecksing


    Export disorders for UBE2D4 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 UBE2D4 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with UBE2D4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2, 3 Scherer S.W.... Tsui L.-C. (Science 2003)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The UbL protein UBTD1 stably interacts with the UBE2D family of E2 ubiquitin conjugating enzymes. (PubMed id 24211586)1 Uhler J.P....Gustafsson C.M. (Biochem. Biophys. Res. Commun. 2014)
    5. Ube2W conjugates ubiquitin to I+-amino groups of protein N-termini. (PubMed id 23560854)1 Tatham M.H....Hay R.T. (Biochem. J. 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. Functional interactions between ubiquitin E2 enzymes and TRIM proteins. (PubMed id 21143188)1 Napolitano L.M....Meroni G. (Biochem. J. 2011)
    10. The IDOL-UBE2D complex mediates sterol-dependent degradation of the LDL receptor. (PubMed id 21685362)1 Zhang L.... Schwabe J.W. (Genes Dev. 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: 51619 HGNC: 21647 AceView: LOC51619 Ensembl:ENSG00000078967 euGenes: HUgn51619
    ECgene: UBE2D4 Kegg: 51619 H-InvDB: UBE2D4

    (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)
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    NameDescription
    PharmGKB entry for UBE2D4 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 UBE2D4 gene:
    Search GeneIP for patents involving UBE2D4

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



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