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

UBR2 Gene

protein-coding   GIFtS: 61
GCID: GC06P042531

Ubiquitin Protein Ligase E3 Component N-Recognin 2

(Previous name: chromosome 6 open reading frame 133)
(Previous symbol: C6orf133)
  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 E3 Component N-Recognin 21 2     bA49A4.12
C6orf1331 2 3 5     dJ242G1.12
Ubiquitin-Protein Ligase E3-Alpha-22 3     dJ392M17.32
Ubiquitin-Protein Ligase E3-Alpha-II2 3     E3 Ubiquitin-Protein Ligase UBR22
KIAA03493 5     EC 6.3.2.-3
Chromosome 6 Open Reading Frame 1331     N-recognin-23
RP3-392M17.32     

External Ids:    HGNC: 212891   Entrez Gene: 233042   Ensembl: ENSG000000240487   OMIM: 6091345   UniProtKB: Q8IWV83   

Export aliases for UBR2 gene to outside databases

Previous GC identifers: GC06P042641 GC06P042250


(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 UBR2 Gene:
This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with
destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative
splicing results in multiple transcript variants.(provided by RefSeq, May 2010)

GeneCards Summary for UBR2 Gene: 
UBR2 (ubiquitin protein ligase E3 component n-recognin 2) is a protein-coding gene. Diseases associated with UBR2 include johanson-blizzard syndrome, and rapadilino syndrome, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity and leucine binding. An important paralog of this gene is UBR3.

UniProtKB/Swiss-Prot: UBR2_HUMAN, Q8IWV8
Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to
proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to
their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and
chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is
a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth

Gene Wiki entry for UBR2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBR2 gene promoter:
         HOXA9   HOXA9B   NRSF form 1   NRSF form 2   YY1   Meis-1b   POU2F1   E2F-1   E2F   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for UBR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBR2


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

UBR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBR2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P042531:  view genomic region     (about GC identifiers)

Start:
42,531,760 bp from pter      End:
42,661,243 bp from pter
Size:
129,484 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: UBR2_HUMAN, Q8IWV8 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase UBR2  
Size: 1755 amino acids; 200538 Da
Subunit: Interacts with UBE2B; promotes the UBE2B-H2A interaction and the ubiquitination of histone H2A by UBE2B
and UBR2 (By similarity). Interacts with RECQL4
Subcellular location: Nucleus (By similarity). Note=Associated with chromatin during meiosis
Developmental stage: Expressed in fetal pancreas
2 PDB 3D structures from and Proteopedia for UBR2:
3NY2 (3D)        3NY3 (3D)    
Secondary accessions: O15057 Q4VXK2 Q5TFH6 Q6P2I2 Q6ZUD0
Alternative splicing: 4 isoforms:  Q8IWV8-1   Q8IWV8-2   Q8IWV8-3   Q8IWV8-4   (Derived from mouse cDNA data. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBR2: NX_Q8IWV8

Explore proteomics data for UBR2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IWV8

  • UBR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBR2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001171730.1  NP_056070.1  

    ENSEMBL proteins: 
     ENSP00000361994   ENSP00000361990   ENSP00000361992   ENSP00000361974  
    Reactome Protein details: Q8IWV8
    Human Recombinant Protein Products for UBR2: 
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    Novus Biologicals UBR2 Proteins
    Novus Biologicals UBR2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBR2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IEA--
    GO:0000785chromatin IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005886plasma membrane IDA--

    UBR2 for ontologies           About GeneDecksing



    UBR2 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for UBR2 
    Cloud-Clone Corp. CLIAs for UBR2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    UBR: Ubiquitin protein ligase E3 component n-recognins

    5 InterPro protein domains:
     IPR001841 Znf_RING
     IPR014719 Ribosomal_L7/12_C/ClpS-like
     IPR003126 Znf_N-recognin
     IPR003769 ClpS_core
     IPR013993 Znf_N-recognin_met

    Graphical View of Domain Structure for InterPro Entry Q8IWV8

    ProtoNet protein and cluster: Q8IWV8

    4 Blocks protein domains:
    IPB000408 Regulator of chromosome condensation
    IPB001841 Zn-finger
    IPB003126 Zn-finger (putative)
    IPB003769 Protein of unknown function DUF174


    UniProtKB/Swiss-Prot: UBR2_HUMAN, Q8IWV8
    Domain: The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the
    classical motif
    Similarity: Belongs to the UBR1 family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 UBR-type zinc finger


    UBR2 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: UBR2_HUMAN, Q8IWV8
    Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to
    proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to
    their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and
    chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is
    a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0070728leucine binding IDA--
         
    UBR2 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ubr2):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  mortality/aging  muscle  nervous system  reproductive system 

    UBR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ubr2tm1Ytkw for UBR2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBR2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UBR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBR2 
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    (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 UBR2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for UBR2
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    UniProtKB/Swiss-Prot: UBR2_HUMAN, Q8IWV8
    Pathway: Protein modification; protein ubiquitination


    UBR2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UBR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/16 Interacting proteins for UBR2 (Q8IWV81, 3 ENSP000003619904) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2BP631463, ENSP000002653394I2D: score=4 STRING: ENSP00000265339
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    FAF1Q9UNN53, ENSP000003794574I2D: score=2 STRING: ENSP00000379457
    UBXN1Q043233, ENSP000002941194I2D: score=2 STRING: ENSP00000294119
    UBXN7O948883, ENSP000002963284I2D: score=2 STRING: ENSP00000296328
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006342chromatin silencing ISS--
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007141male meiosis I IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030163protein catabolic process ----

    UBR2 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 UBR2

    4 HMDB Compounds for UBR2    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 UBR2

    (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 UBR2 gene (2 alternative transcripts): 
    NM_001184801.1  NM_015255.2  

    Unigene Cluster for UBR2:

    Ubiquitin protein ligase E3 component n-recognin 2
    Hs.529925  [show with all ESTs]
    Unigene Representative Sequence: NM_015255
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372903(uc003osf.3) ENST00000372899(uc011dur.2) ENST00000372901(uc011dus.2 uc003osh.3 uc011dut.2 uc011duu.2)
    ENST00000372883(uc010jxv.1 uc021yzn.1)
    miRNA
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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate UBR2 (see all 38):
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    Additional mRNA sequence: 

    AB002347.1 AK026998.1 AK125795.1 AK127310.1 AK304070.1 AK310532.1 AY061884.1 BC024217.2 
    BC064512.1 HM370397.1 

    15 DOTS entries:

    DT.40108778  DT.91962010  DT.100023740  DT.101982535  DT.118053  DT.97840428  DT.99999357  DT.100740264 
    DT.101982534  DT.100727894  DT.91743479  DT.91924088  DT.95255689  DT.86998710  DT.99928100 

    24/189 AceView cDNA sequences (see all 189):

    F03198 AI693180 BC024217 AA918043 AY061884 Z42666 AI095437 AA359410 
    AK125795 BQ228485 AA366836 H94489 AA703630 N72601 CB215912 BE466335 
    BM475977 N54123 BU682690 NM_015255 F01641 AA983671 F02160 AL708958 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for UBR2 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21 ^
    SP1:                                -                                               -           -     -                 -                                       
    SP2:                                                                                      -           -                                                         
    SP3:                                -                                               -     -                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                            -     -                                                         

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41a ·
    SP1:                                -                 -                             -                       -     -                             -           -   
    SP2:                                -                 -                                                     -     -                             -           -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 41b ^ 42 ^ 43 ^ 44a · 44b ^ 45a · 45b ^ 46 ^ 47 ^ 48 ^ 49a · 49b ^ 50 ^ 51a · 51b · 51c
    SP1:                    -                 -                       -                                 
    SP2:              -     -                 -                       -                                 
    SP3:                                                                                                
    SP4:                    -                 -                       -                                 
    SP5:                                                                                                


    ECgene alternative splicing isoforms for UBR2

    (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

    UBR2 expression in normal human tissues (normalized intensities)      UBR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAGGAAGC
    UBR2 Expression
    About this image


    UBR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Respiratory System)    fully expand to see all 4 entries
             lung ; macrophages   
             neutrophils   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See UBR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBR2

    SOURCE GeneReport for Unigene cluster: Hs.529925

    UniProtKB/Swiss-Prot: UBR2_HUMAN, Q8IWV8
    Tissue specificity: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in
    acinar cells of the pancreas (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including UBR2: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              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 UBR2 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubr21 , 5 ubiquitin protein ligase E3 component n-recognin 21, 5 84.37(n)1
    89.86(a)1
      17 (22.91 cM)5
    2248261  NM_001177374.11  NP_001170845.11 
     469282925 
    chicken
    (Gallus gallus)
    Aves UBR21 ubiquitin protein ligase E3 component n-recognin 2 83.14(n)
    89.49(a)
      421387  XM_419446.3  XP_419446.3 
    lizard
    (Anolis carolinensis)
    Reptilia UBR26
    ubiquitin protein ligase E3 component n-recognin 2...
    85(a)
    1 ↔ 1
    1(236661699-236738320)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244322 Xenopus laevis transcribed sequence with weak similarity more 76.1(n)    BX850812.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ubr21 ubiquitin protein ligase E3 component n-recognin 2 67.97(n)
    73.65(a)
      559136  XM_001921555.3  XP_001921590.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90861 CG9086 45.57(n)
    36.41(a)
      32687  NM_132956.2  NP_573184.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ubr-11 Protein UBR-1 47.45(n)
    35.45(a)
      171953  NM_058830.3  NP_491231.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBR1(YGR184C)4 E3 ubiquitin ligase (N-recognin), forms heterodimer more   --   7(865753-859901) 853096  NP_011700.1 


    ENSEMBL Gene Tree for UBR2 (if available)
    TreeFam Gene Tree for UBR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBR2 gene
    UBR32  UBR12  
    1 SIMAP similar gene for UBR2 using alignment to 1 protein entry:     UBR2_HUMAN:
    UBR1

    UBR2 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

    10/2765 SNPs in UBR2 are shown (see all 2765)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1396612911,2
    --42529835(+) CAAAGG/TAGCTA 2 -- us2k10--------
    rs1862950691,2
    --42529868(+) TGTTCA/GGCTAA 2 -- us2k10--------
    rs93811941,2
    C,F,A,H--42530004(+) TGCTCG/AGCCTG 2 -- us2k112Minor allele frequency- A:0.47EA NS NA WA 958
    rs1443885761,2
    --42530251(+) GTACAG/TATATG 2 -- us2k10--------
    rs774603081,2
    C,F--42530318(+) GGAGAG/AGGACT 2 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1417700151,2
    C--42530404(+) ATATG-/TAGTATA 2 -- us2k10--------
    rs719109081,2
    C--42530405(+) ATATG-/TATATAT 2 -- us2k10--------
    rs2019956951,2
    C--42530406(+) TATGTA/GTATAT 2 -- us2k10--------
    rs556948131,2
    C--42530417(+) ATATA-/T/TA  
            
    ACTTT
    2 -- us2k10--------
    rs1895213601,2
    --42530527(+) GGTTTA/TAAAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for UBR2 (42531760 - 42661243 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for UBR2 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731989CNV Deletion23290073
    esv2731990CNV Deletion23290073
    esv2731988CNV Deletion23290073
    esv2233433CNV Deletion18987734
    esv2671214CNV Deletion23128226
    esv272665CNV Insertion20981092
    nsv5280CNV Insertion18451855
    nsv350088CNV Insertion16902084
    dgv6838n71CNV Loss21882294
    nsv518847CNV Loss19592680

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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: 609134    OMIM disorders: --

    7 diseases for UBR2:    About MalaCards
    johanson-blizzard syndrome    rapadilino syndrome    rothmund-thomson syndrome    vitelliform macular dystrophy
    azoospermia    mental retardation    pancreatitis

    2 diseases from the University of Copenhagen DISEASES database for UBR2:
    Johanson-Blizzard syndrome     Rapadilino syndrome

    UBR2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UBR2
    Human Genome Epidemiology (HuGE) Navigator: UBR2 (1 document)

    Export disorders for UBR2 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 UBR2 gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with UBR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway. (PubMed id 20298436)1, 2, 9 Kume K....Handa H. (2010)
    2. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (PubMed id 15317757)1, 2, 9 Yin J.... Wang W. (2004)
    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. (2010)
    4. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). (PubMed id 16311597)1, 2 Zenker M.... Reis A. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Regulation of protein catabolism by muscle-specific and cytokine- inducible ubiquitin ligase E3alpha-II during cancer cachexia. (PubMed id 15548684)1, 2 Kwak K.S.... Han H.Q. (2004)
    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. (2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    9. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
    10. Identification of a novel antibody associated with au toimmune pancreatitis. (PubMed id 19940298)1, 9 Frulloni L....Puccetti A. (2009)

    (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: 23304 HGNC: 21289 AceView: C6orf133 Ensembl:ENSG00000024048 euGenes: HUgn23304
    ECgene: UBR2 H-InvDB: UBR2

    (According to HUGE)
    About This Section
    HUGE: KIAA0349

    (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 UBR2 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 UBR2 gene:
    Search GeneIP for patents involving UBR2

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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