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

UBE3B Gene

protein-coding   GIFtS: 61
GCID: GC12P109915

Ubiquitin Protein Ligase E3B

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ubiquitin Protein Ligase E3B1 2
BPIDS2
Ubiquitin-Protein Ligase E3B2
EC 6.3.2.-3
EC 6.3.28

External Ids:    HGNC: 134781   Entrez Gene: 899102   Ensembl: ENSG000001511487   OMIM: 6080475   UniProtKB: Q7Z3V43   

Export aliases for UBE3B gene to outside databases

Previous GC identifers: GC12P108973 GC12P109754 GC12P108378 GC12P106933


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UBE3B Gene:
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or
short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1
ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene
encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2
ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP
C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin
transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT
domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct
isoforms have been identified for this gene. (provided by RefSeq, Jul 2012)

GeneCards Summary for UBE3B Gene: 
UBE3B (ubiquitin protein ligase E3B) is a protein-coding gene. Diseases associated with UBE3B include blepharophimosis-intellectual deficit syndrome due to ube3b deficiency, and autosomal dominant nonsyndromic deafness, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation and Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is UBE3C.

UniProtKB/Swiss-Prot: UBE3B_HUMAN, Q7Z3V4
Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form
of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009775.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBE3B gene promoter:
         FAC1   HOXA3   GCNF-1   GCNF   GCNF-2   Nkx5-1   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBE3B promoter sequence
   Search SABiosciences Chromatin IP Primers for UBE3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBE3B


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

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.12

UBE3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBE3B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P109915:  view genomic region     (about GC identifiers)

Start:
109,915,207 bp from pter      End:
109,974,507 bp from pter
Size:
59,301 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UBE3B_HUMAN, Q7Z3V4 (See protein sequence)
Recommended Name: Ubiquitin-protein ligase E3B  
Size: 1068 amino acids; 123098 Da
Secondary accessions: A5D8Z3 Q05BX9 Q659F7 Q7Z7Q1 Q9BXZ4
Alternative splicing: 3 isoforms:  Q7Z3V4-1   Q7Z3V4-2   Q7Z3V4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBE3B: NX_Q7Z3V4

Explore proteomics data for UBE3B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z3V4

  • 2 DME Specific Peptides for UBE3B (Q7Z3V4)
     LPTSSTC  LKFVTSCSRPPLLGF 

    UBE3B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBE3B Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001257378.1  NP_001257379.1  NP_001257380.1  NP_569733.2  NP_904324.1  

    ENSEMBL proteins: 
     ENSP00000391529   ENSP00000440585   ENSP00000443131   ENSP00000340596   ENSP00000342614  
     ENSP00000443565   ENSP00000395802   ENSP00000437694   ENSP00000474360   ENSP00000280774  
     ENSP00000442276  
    Reactome Protein details: Q7Z3V4
    Human Recombinant Protein Products for UBE3B: 
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    Novus Biologicals UBE3B Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBE3B 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm IBA--

    UBE3B for ontologies           About GeneDecksing



    UBE3B Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for UBE3B 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000048 IQ_motif_EF-hand-BS
     IPR000569 HECT

    Graphical View of Domain Structure for InterPro Entry Q7Z3V4

    ProtoNet protein and cluster: Q7Z3V4

    1 Blocks protein domain: IPB000569 HECT domain (Ubiquitin-protein ligase)

    UniProtKB/Swiss-Prot: UBE3B_HUMAN, Q7Z3V4
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 1 IQ domain


    UBE3B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBE3B_HUMAN, Q7Z3V4
    Function: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form
    of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)

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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
    GO:0005515protein binding ----
         
    UBE3B for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for UBE3B:
     Decreased viability of wild-ty  Increased S DNA content  Synthetic lethal with Ras  Synthetic lethal with c-Myc af 
     Synthetic lethal with cisplati 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ube3b):
     adipose tissue  behavior/neurological  cardiovascular system  craniofacial  growth/size 
     homeostasis/metabolism  integument  skeleton 

    UBE3B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBE3B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UBE3B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBE3B 
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    miRNA
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    hsa-miR-21* hsa-miR-875-3p hsa-miR-148b hsa-miR-301a hsa-miR-3142 hsa-miR-1827 hsa-miR-130b hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidUBE3B 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBE3B


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UBE3B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Ubiquitin mediated proteolysis0.36
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3PEDF Induced Signaling
    RAR-Gamma-RXR-Alpha Degradation0.62
    4Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    5SMAD Signaling Network
    SMAD Signaling Network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for UBE3B
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis
    RAR-Gamma-RXR-Alpha Degradation

    4        Reactome Pathways for UBE3B
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    1         Kegg Pathway  (Kegg details for UBE3B):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: UBE3B_HUMAN, Q7Z3V4
    Pathway: Protein modification; protein ubiquitination


    UBE3B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UBE3B

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/35 Interacting proteins for UBE3B (Q7Z3V43 ENSP000003405964) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=3 
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    ENSG00000096171P266403I2D: score=1 
    ENSG00000226589P266403I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    UBE3B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UBE3B

    4 HMDB Compounds for UBE3B    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--

    Search CenterWatch for drugs/clinical trials and news about UBE3B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UBE3B gene (6 alternative transcripts): 
    NM_001270449.1  NM_001270450.1  NM_001270451.1  NM_130466.3  NM_183415.2  NM_183414.1  

    Unigene Cluster for UBE3B:

    Ubiquitin protein ligase E3B
    Hs.374067  [show with all ESTs]
    Unigene Representative Sequence: NM_130466
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434735(uc009zvj.1 uc001toq.3 uc001tos.3 uc001tot.3)
    ENST00000539843 ENST00000536398(uc001ton.3) ENST00000539599 ENST00000342494(uc001top.3)
    ENST00000340074(uc001tom.3) ENST00000540230(uc001tor.3) ENST00000449510(uc001too.1)
    ENST00000537063 ENST00000535900 ENST00000539584 ENST00000538070(uc010sxp.1)
    ENST00000605142 ENST00000280774 ENST00000535089
    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate UBE3B (see all 24):
    hsa-miR-21* hsa-miR-875-3p hsa-miR-148b hsa-miR-301a hsa-miR-3142 hsa-miR-1827 hsa-miR-130b hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidUBE3B 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF130072.1 AF251046.2 AK056015.1 AK301036.1 AK304678.1 AK307385.1 BC013182.1 BC020348.1 
    BC032301.1 BC040155.1 BC051266.1 BC068221.1 BC108705.1 BC141880.1 BC144684.1 BC150637.1 
    BX537403.1 

    24 DOTS entries:

    DT.454561  DT.92441920  DT.99989375  DT.95313051  DT.95313053  DT.101983921  DT.99981676  DT.75127322 
    DT.100784663  DT.95179168  DT.100703058  DT.65286904  DT.207681  DT.40125574  DT.75103797  DT.92441918 
    DT.100695974  DT.92059583  DT.97812263  DT.100705342  DT.121205054  DT.75119309  DT.91741005  DT.91863694 

    24/400 AceView cDNA sequences (see all 400):

    AI264287 AI371974 BC032301 BF529297 BE243716 R82783 BQ061239 AI142060 
    BE242220 BM927617 AI262347 AA398368 BI821961 BQ879394 AW071876 AI524358 
    AI676034 AA781622 CR601612 BQ064867 BQ436381 BC051266 AI394278 NM_183414 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for UBE3B (see all 8)    About this scheme

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

    ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for UBE3B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UBE3B expression in normal human tissues (normalized intensities)      UBE3B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGATTTTTG
    UBE3B Expression
    About this image


    UBE3B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             ganglion/cranial   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             platelets   

    See UBE3B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBE3B

    SOURCE GeneReport for Unigene cluster: Hs.374067

    UniProtKB/Swiss-Prot: UBE3B_HUMAN, Q7Z3V4
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including UBE3B: 
              Ubiquitin Ligases in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for UBE3B gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ube3b1 , 5 ubiquitin protein ligase E3B1, 5 86.11(n)1
    92.32(a)1
      5 (55.99 cM)5
    1171461  NM_054093.21  NP_473434.21 
     1143806285 
    chicken
    (Gallus gallus)
    Aves LOC7762861 ubiquitin-protein ligase E3B-like 78.31(n)
    86.1(a)
      776286  XM_003642198.1  XP_003642246.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBE3B6
    Uncharacterized protein
    69(a)
    1 ↔ 1
    AAWZ02041583(1100-3477)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5568641 novel protein similar to ubiquitin protein ligase E3B more 73.86(n)
    81.8(a)
      556864  NM_001114682.1  NP_001108154.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50871 , 3 ubiquitin-protein ligase3
    CG50871
    35(a)3
    55.02(n)1
    49.62(a)1
      66F13
    390351  NM_140022.11  NP_648279.11 
    worm
    (Caenorhabditis elegans)
    Secernentea oxi-11 Protein OXI-1 47.63(n)
    39.38(a)
      176515  NM_066991.3  NP_499392.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HUL56
    Multiubiquitin chain assembly factor (E4); proteas...
    24(a)
    1 → many
    VII(238353-241085)


    ENSEMBL Gene Tree for UBE3B (if available)
    TreeFam Gene Tree for UBE3B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBE3B gene
    UBE3C2  
    5 SIMAP similar genes for UBE3B using alignment to 7 protein entries:     UBE3B_HUMAN (see all proteins):
    UBE3A    NEDD4L    DKFZp564H223    HUWE1    SMURF2

    UBE3B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1227 SNPs in UBE3B are shown (see all 1227)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496802701,2
    --109917611(+) CCCTGC/GGAGAA 5 -- int10--------
    rs1819815051,2
    C--109917929(+) TCAGAC/TTGCCA 5 -- int10--------
    rs1883624181,2
    --109918082(+) CAAGTA/GCCTCC 5 -- int10--------
    rs110668131,2
    C,F,H--109918103(+) GATAAG/ACATCA 5 -- int117Minor allele frequency- A:0.11NS EA NA CSA WA 1899
    rs1428915591,2
    --109918211(+) ATTTTG/TGGAGG 5 -- int10--------
    rs1450481821,2
    C--109918276(+) TATAGC/TGAGAC 5 -- int10--------
    rs1809364741,2
    --109918370(+) AGAATC/TGCTTG 5 -- int10--------
    rs116099211,2
    C,F,H--109918405(+) GAACCA/GTGATT 5 -- int17Minor allele frequency- G:0.16NA WA EA 366
    rs353173811,2
    C--109918455(+) GCCTT-/AAAAAA 5 -- int11Minor allele frequency- A:0.50NA 2
    rs3677615141,2
    C--109918456(+) TGCCT-/AAAAAAA 5 -- int10--------

    HapMap Linkage Disequilibrium report for UBE3B (109915207 - 109974507 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UBE3B:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1490n71CNV Loss21882294
    nsv899514CNV Loss21882294


    Human Gene Mutation Database (HGMD): UBE3B
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 608047    OMIM disorders: --

    6 diseases for UBE3B:    About MalaCards
    blepharophimosis-intellectual deficit syndrome due to ube3b deficiency    autosomal dominant nonsyndromic deafness    blepharitis    blepharophimosis
    nonsyndromic deafness    intellectual disability

    1 disease from the University of Copenhagen DISEASES database for UBE3B:
    Blepharophimosis

    UBE3B for disorders           About GeneDecksing

    Genetic Association Database (GAD): UBE3B
    Human Genome Epidemiology (HuGE) Navigator: UBE3B (1 document)

    Export disorders for UBE3B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UBE3B gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with UBE3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    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. (2004)
    3. Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing. (PubMed id 12837265)1, 2 Gong T.-W.L.... Lomax M.I. (2003)
    4. Deficiency for the ubiquitin ligase UBE3B in a blephar ophimosis-ptosis-intellectual-disability syndrome. (PubMed id 23200864)1 Basel-Vanagaite L....Borck G. (2012)
    5. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PubMed id 21565611)1 Sang L.... Jackson P.K. (2011)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PubMed id 20864672)1 Waterworth D.M....Sandhu M.S. (2010)
    9. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
    10. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1 Meierhofer D.... Kaiser P. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 89910 HGNC: 13478 AceView: UBE3B Ensembl:ENSG00000151148 euGenes: HUgn89910
    ECgene: UBE3B Kegg: 89910 H-InvDB: UBE3B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UBE3B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UBE3B gene:
    Search GeneIP for patents involving UBE3B

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



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