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SMURF2 Gene

protein-coding   GIFtS: 66
GCID: GC17M062540

SMAD Specific E3 Ubiquitin Protein Ligase 2

  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
SMAD Specific E3 Ubiquitin Protein Ligase 21 2     E3 Ubiquitin Ligase SMURF22
hSMURF22 3     E3 Ubiquitin-Protein Ligase SMURF22
SMAD Ubiquitination Regulatory Factor 22 3     EC 6.3.2.-3
SMAD-Specific E3 Ubiquitin-Protein Ligase 22 3     EC 6.3.28

External Ids:    HGNC: 168091   Entrez Gene: 647502   Ensembl: ENSG000001088547   OMIM: 6055325   UniProtKB: Q9HAU43   

Export aliases for SMURF2 gene to outside databases

Previous GC identifers: GC17P065700 GC17P068820 GC17M062959 GC17M063091 GC17M059971 GC17M057990


(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 SMURF2 Gene:
SMURF2 (SMAD specific E3 ubiquitin protein ligase 2) is a protein-coding gene. Diseases associated with SMURF2 include cerebral cavernous malformations-2, and liddle syndrome. GO annotations related to this gene include identical protein binding and SMAD binding. An important paralog of this gene is NEDD4L.

UniProtKB/Swiss-Prot: SMUF2_HUMAN, Q9HAU4
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. Interacts with SMAD1 and SMAD7
in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with
SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex
with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates,
such as SNON, for ubiquitin-mediated degradation. Enhances the inhibitory activity of SMAD7 and reduces the
transcriptional activity of SMAD2. Coexpression of SMURF2 with SMAD1 results in considerable decrease in
steady-state level of SMAD1 protein and a smaller decrease of SMAD2 level

Gene Wiki entry for SMURF2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMURF2 gene promoter:
         HFH-3   TBP   Pbx1a   NF-AT   FOXI1   NF-AT4   NF-AT2   COMP1   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SMURF2 promoter sequence
   Search Chromatin IP Primers for SMURF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMURF2


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

Entrez Gene cytogenetic band: 17q22-q23   Ensembl cytogenetic band:  17q24.1   HGNC cytogenetic band: 17q22-q23

SMURF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMURF2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M062540:  view genomic region     (about GC identifiers)

Start:
62,538,413 bp from pter      End:
62,658,386 bp from pter
Size:
119,974 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003315947 348,464-410,491     

(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: SMUF2_HUMAN, Q9HAU4 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase SMURF2  
Size: 748 amino acids; 86196 Da
Subunit: Interacts (via WW domains) with SMAD1. Interacts (via WW domains) with SMAD2 (via PY-motif). Interacts
(via WW domains) with SMAD3 (via PY-motif). Interacts with SMAD6. Interacts with SMAD7 (via PY-motif) and TGFBR1;
SMAD7 recruits SMURF2 to the TGF-beta receptor and regulates its degradation. Does not interact with SMAD4; SMAD4
lacks a PY-motif. Interacts with AIMP1. Interacts with STAMBP and RNF11. Interacts with NDFIP1 and NDFIP2
(Probable); this interaction activates the E3 ubiquitin-protein ligase
5 PDB 3D structures from and Proteopedia for SMURF2:
1ZVD (3D)        2DJY (3D)        2JQZ (3D)        2KXQ (3D)        2LTZ (3D)    
Secondary accessions: Q52LL1 Q9H260

Explore the universe of human proteins at neXtProt for SMURF2: NX_Q9HAU4

Explore proteomics data for SMURF2 at MOPED

Post-translational modifications: 

  • Auto-ubiquitinated and ubiquitinated in the presence of RNF11 and UBE2D1. Ubiquitinated by the SCF(FBXL15)
    complex, leading to its degradation by the proteasome1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SMURF2 (Q9HAU4) (see all 26)
     PLPPGWE  GFKALQG  LQINPDS  NPYYGLF 


    See SMURF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073576.1  
    ENSEMBL proteins: 
     ENSP00000463531   ENSP00000464432   ENSP00000262435   ENSP00000463804  
    Reactome Protein details: Q9HAU4

    SMURF2 Human Recombinant Protein Products:

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    OriGene MassSpec for SMURF2
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    Novus Biologicals SMURF2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMURF2

    SMURF2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SMURF2
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    Cell Signaling Technology (CST) Antibodies for SMURF2 
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    Novus Biologicals SMURF2 Antibodies
    Abcam antibodies for SMURF2 (Q52LL1, Q9HAU4)
    Cloud-Clone Corp. Antibodies for SMURF2
    ThermoFisher Antibody for SMURF2
    LSBio Antibodies in human, mouse, rat for SMURF2

    SMURF2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMURF2
    Cloud-Clone Corp. CLIAs for SMURF2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR024928 E3_ub_ligase_SMURF1
     IPR000569 HECT
     IPR001202 WW_dom
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q9HAU4

    ProtoNet protein and cluster: Q9HAU4

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


    UniProtKB/Swiss-Prot: SMUF2_HUMAN, Q9HAU4
    Domain: The second and third WW domains are responsible for interaction with the PY-motif of R-SMAD (SMAD1, SMAD2
    and SMAD3)
    Domain: The C2 domain is involved in autoinhibition of the catalytic activity by interacting with the HECT domain
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 3 WW domains


    SMURF2 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: SMUF2_HUMAN, Q9HAU4
    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. Interacts with SMAD1 and SMAD7
    in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with
    SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex
    with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates,
    such as SNON, for ubiquitin-mediated degradation. Enhances the inhibitory activity of SMAD7 and reduces the
    transcriptional activity of SMAD2. Coexpression of SMURF2 with SMAD1 results in considerable decrease in
    steady-state level of SMAD1 protein and a smaller decrease of SMAD2 level
    Enzyme regulation: Activated by NDFIP1- and NDFIP2-binding

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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity TAS--
    GO:0005160transforming growth factor beta receptor binding IEA--
    GO:0005515protein binding IPI14755250
    GO:0042802identical protein binding IPI15231748
    GO:0046332SMAD binding IPI19122240
         
    SMURF2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SMURF2:
     Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Smurf2):
     cellular  embryogenesis  hearing/vestibular/ear  hematopoietic system  immune system 
     limbs/digits/tail  mortality/aging  nervous system  normal  skeleton 
     tumorigenesis 

    SMURF2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SMURF2: Smurf2tm1Wran Smurf2tm1Yez

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMURF2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMURF2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMURF2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMURF2

    miRNA
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    miRTarBase miRNAs that target SMURF2:
    hsa-mir-16-5p (MIRT031987), hsa-mir-122-5p (MIRT023400)

    Block miRNA regulation of human, mouse, rat SMURF2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMURF2 (see all 21):
    hsa-miR-875-3p hsa-miR-676 hsa-miR-520d-5p hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-miR-128 hsa-miR-1244
    SwitchGear 3'UTR luciferase reporter plasmidSMURF2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMURF2
    Predesigned siRNA for gene silencing in human, mouse, rat SMURF2

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SMURF2 (NM_022739)
    Sino Biological Human cDNA Clone for SMURF2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMURF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMURF2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMURF2


    (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
    SMUF2_HUMAN, Q9HAU4: Nucleus. Cytoplasm. Cell membrane. Membrane raft. Note=Cytoplasmic in the presence of SMAD7.
    Colocalizes with CAV1, SMAD7 and TGF-beta receptor in membrane rafts
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol4
    mitochondrion3
    peroxisome2
    endosome1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IDA14755250
    GO:0005634nucleus NAS11163210
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IBA--
    GO:0005829cytosol TAS--

    SMURF2 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 SMURF2 About   (see all 20)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    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
    2Signaling by BMP
    Signaling by BMP0.35
    BMP receptor signaling0.31
    3Loss of Function of SMAD2/3 in Cancer
    Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer0.72
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD2/3 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD4 MH2 Domain Mutants in Cancer0.60
    4TGF-beta receptor signaling activates SMADs
    Downregulation of TGF-beta receptor signaling0.82
    TGF-beta receptor signaling activates SMADs0.82
    5beta-catenin independent WNT signaling
    beta-catenin independent WNT signaling0.79
    Signaling by Wnt0.79

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for SMURF2
        TGF-beta Signaling Pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMURF2
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis

    2 Cell Signaling Technology (CST) Pathways for SMURF2
        TGF-beta/Smad Signaling
    Protein Stability

    1 GeneGo (Thomson Reuters) Pathway for SMURF2
        Development TGF-beta receptor signaling

    3 BioSystems Pathways for SMURF2
        TGF-beta Receptor Signaling Pathway
    BMP receptor signaling
    TGF-beta receptor signaling


    Selected Reactome Pathways for SMURF2 (see all 6)
        Asymmetric localization of PCP proteins
    Antigen processing: Ubiquitination & Proteasome degradation
    Downregulation of SMAD2/3:SMAD4 transcriptional activity
    degradation of AXIN
    Downregulation of TGF-beta receptor signaling


    3 Kegg Pathways  (Kegg details for SMURF2):
        Ubiquitin mediated proteolysis
    Endocytosis
    TGF-beta signaling pathway

    UniProtKB/Swiss-Prot: SMUF2_HUMAN, Q9HAU4
    Pathway: Protein modification; protein ubiquitination


    SMURF2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMURF2: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Mesenchymal Stem Cell in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SMURF2

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

    Selected Interacting proteins for SMURF2 (Q9HAU41, 2, 3 ENSP000002624354) via UniProtKB, MINT, STRING, and/or I2D (see all 298)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840221, 2, 3, ENSP000003329734EBI-396727,EBI-347161 MINT-8308229 MINT-8308249 MINT-8308205 MINT-8308301 MINT-8308602 MINT-8308274 I2D: score=8 STRING: ENSP00000332973
    SMAD2Q157961, 2, 3, ENSP000002621604EBI-396727,EBI-1040141 MINT-60925 MINT-8308318 MINT-8308333 MINT-61781 I2D: score=9 STRING: ENSP00000262160
    LAPTM5Q135712, 3, ENSP000002945074MINT-61804 MINT-62170 I2D: score=3 STRING: ENSP00000294507
    ATP5BP065762, 3, ENSP000002620304MINT-6503900 MINT-6504070 I2D: score=1 STRING: ENSP00000262030
    ECHS1P300842, 3, ENSP000003575354MINT-6503820 MINT-6503970 I2D: score=1 STRING: ENSP00000357535
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS--
    GO:0006351transcription, DNA-templated TAS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0006511ubiquitin-dependent protein catabolic process IDA14755250
    GO:0007179transforming growth factor beta receptor signaling pathway TAS--

    SMURF2 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 SMURF2 (SMUF2)

    4 HMDB Compounds for SMURF2    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 SMURF2 gene: 
    NM_022739.3  

    Unigene Cluster for SMURF2:

    SMAD specific E3 ubiquitin protein ligase 2
    Hs.515011  [show with all ESTs]
    Unigene Representative Sequence: CR936721
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582081(uc002jep.1 uc002jeq.1 uc002jer.1) ENST00000578386
    ENST00000262435 ENST00000585301 ENST00000580072 ENST00000578200 ENST00000580246

    miRNA
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    hsa-miR-875-3p hsa-miR-676 hsa-miR-520d-5p hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-miR-128 hsa-miR-1244
    SwitchGear 3'UTR luciferase reporter plasmidSMURF2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat SMURF2
      QuantiFast Probe-based Assays in human, mouse, rat SMURF2

    Additional mRNA sequence: 

    AF301463.1 AF310676.1 AK002019.1 AY014180.1 BC009527.1 BC034789.1 BC051283.1 BC093876.1 
    BC111945.1 CR936721.1 

    17 DOTS entries:

    DT.100741620  DT.451571  DT.120898008  DT.440884  DT.95376151  DT.429595  DT.102830379  DT.91911103 
    DT.435798  DT.91900067  DT.120897957  DT.120898096  DT.75175269  DT.91827148  DT.92420938  DT.95376146 
    DT.65287549 

    Selected AceView cDNA sequences (see all 217):

    CA314304 AA253311 BM769365 AI700620 AW297108 BX118296 NM_022739 AI092130 
    AI370738 AA705919 CK819585 BG319479 AY014180 BM830839 AA404563 BF432601 
    BM129601 BP361875 BE892278 AI433426 AA290920 BM850382 BM698397 AI273639 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SMURF2    About this scheme

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


    ECgene alternative splicing isoforms for SMURF2

    (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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    SMURF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGAAGTCGA
    SMURF2 Expression
    About this image


    SMURF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             T Helper Cells Thymus
    SMURF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMURF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515011

    UniProtKB/Swiss-Prot: SMUF2_HUMAN, Q9HAU4
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMURF2: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Mesenchymal Stem Cell 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMURF2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smurf21 , 5 SMAD specific E3 ubiquitin protein ligase 21, 5 92.07(n)1
    99.2(a)1
      11 (70.03 cM)5
    663131  NM_025481.21  NP_079757.21 
     1068200665 
    chicken
    (Gallus gallus)
    Aves SMURF21 SMAD specific E3 ubiquitin protein ligase 2 86.76(n)
    98.13(a)
      427809  XM_425380.4  XP_425380.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMURF26
    SMAD specific E3 ubiquitin protein ligase 2
    97(a)
    1 ↔ 1
    GL343250.1(1164665-1277130)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL850675.22   -- 79.64(n)    AL850675.2 
    zebrafish
    (Danio rerio)
    Actinopterygii smurf21 SMAD specific E3 ubiquitin protein ligase 2 76.02(n)
    92.51(a)
      563633  NM_001114426.1  NP_001107898.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lack1 , 3 TGFbeta receptor signaling pathway
    ubiquitin-protein more3
    lethal with a checkpoint kinase1
    71(a)3
    60.25(n)1
    64.57(a)1
      369991  NM_079055.31  NP_523779.11 


    ENSEMBL Gene Tree for SMURF2 (if available)
    TreeFam Gene Tree for SMURF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMURF2 gene
    NEDD4L2  HECW22  AREL12  UBR52  WWP22  HECW12  SMURF12  HUWE12  
    NEDD42  WWP12  ITCH2  
    Selected SIMAP similar genes for SMURF2 using alignment to 6 protein entries:     SMUF2_HUMAN (see all proteins) (see all similar genes):
    DKFZp564H223    SMURF1    NEDD4    HUWE1    NEDD4L    HECW2
    HECW1    DKFZp564G092    NEDL1    ITCH    UBE3A    WWP1
    WWP2    HACE1    HECTD1    AREL1    HERC1    HECTD2

    SMURF2 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 SMURF2 (see all 2141)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1439201141,2
    --62540241(+) CTCCCC/TGCCCC 1 -- ds50010--------
    rs1846690221,2
    --62540389(+) TTGCCA/CCTCTT 1 -- ds50010--------
    rs1117106931,2
    F--62540422(+) GCACCT/CCTGAG 1 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs1895089621,2
    --62540426(+) CCCTGA/GGGAAC 1 -- ds50010--------
    rs38400641,2
    C--62540563(+) AATGTA/-AAAAA 1 -- ds50012Minor allele frequency- -:0.25NA CSA 4
    rs1818769011,2
    --62540643(+) CTCACC/TCCAGA 1 -- ds50010--------
    rs1484619631,2
    C--62540677(+) CAACAC/TGCACG 1 -- ds50010--------
    rs780846231,2
    C,F--62540681(+) ATGCAC/GGCACC 1 -- ds50011Minor allele frequency- G:0.05WA 118
    rs176510391,2
    C,F,H--62540690(+) CCTTGA/GAAGCT 1 -- ds500112Minor allele frequency- G:0.02NA NS EA 1336
    rs1849104741,2
    --62540745(+) GGAAGC/TGGGAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SMURF2 (62538413 - 62658386 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SMURF2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656677CNV Deletion23128226
    nsv908687CNV Loss21882294
    nsv908686CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMURF2
    DNA2.0 Custom Variant and Variant Library Synthesis for SMURF2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605532    OMIM disorders: --

    Selected diseases for SMURF2 (see all 22):    
    About MalaCards
    cerebral cavernous malformations-2    liddle syndrome    ureteral obstruction    cavernous malformation
    cerebral cavernous malformation    progressive supranuclear palsy    scleroderma    cerebritis
    squamous cell carcinoma    herpes simplex    osteoarthritis    esophageal squamous cell carcinoma
    oral squamous cell carcinoma    hepatitis c virus    esophagitis    hepatitis c
    melanoma    breast cancer    endotheliitis    hepatitis


    SMURF2 for disorders           About GeneDecksing


    Export disorders for SMURF2 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 SMURF2 gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with SMURF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Smurf2 Is a ubiquitin E3 ligase mediating proteasome-dependent degradation of Smad2 in transforming growth factor-beta signaling. (PubMed id 11016919)1, 2, 3 Lin X.... Feng X.-H. (J. Biol. Chem. 2000)
    2. Regulation of Smad degradation and activity by Smurf2, an E3 ubiquitin ligase. (PubMed id 11158580)1, 2, 9 Zhang Y.... Derynck R. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    3. The RING-H2 protein RNF11 is overexpressed in breast cancer and is a target of Smurf2 E3 ligase. (PubMed id 14562029)1, 2, 9 Subramaniam V.... Seth A.K. (Br. J. Cancer 2003)
    4. Autoinhibition of the HECT-type ubiquitin ligase Smurf2 through its C2 domain. (PubMed id 17719543)1, 2, 9 Wiesner S.... Forman-Kay J.D. (Cell 2007)
    5. An expanded WW domain recognition motif revealed by the interaction between Smad7 and the E3 ubiquitin ligase Smurf2. (PubMed id 16641086)1, 2, 9 Chong P.A.... Forman-Kay J.D. (J. Biol. Chem. 2006)
    6. Regulation of Smurf2 ubiquitin ligase activity by anchoring the E2 to the HECT domain. (PubMed id 16061177)1, 2, 9 Ogunjimi A.A....Wrana J.L. (Mol. Cell 2005)
    7. SCF(FBXL15) regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1. (PubMed id 21572392)1, 2 Cui Y.... Zhang L. (EMBO J. 2011)
    8. Control of the activity of WW-HECT domain E3 ubiquitin ligases by NDFIP proteins. (PubMed id 19343052)1, 2 Mund T. and Pelham H.R. (EMBO Rep. 2009)
    9. AIMP1/p43 downregulates TGF-beta signaling via stabilization of smurf2. (PubMed id 18448069)1, 2 Lee Y.S.... Kim S. (Biochem. Biophys. Res. Commun. 2008)
    10. An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein. (PubMed id 14755250)1, 2 Li H. and Seth A.K. (Oncogene 2004)

    (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: 64750 HGNC: 16809 AceView: SMURF2 Ensembl:ENSG00000108854 euGenes: HUgn64750
    ECgene: SMURF2 Kegg: 64750 H-InvDB: SMURF2

    (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 SMURF2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMURF2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMURF2 gene:
    Search GeneIP for patents involving SMURF2

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



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