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

SMURF2 Gene

protein-coding   GIFtS: 65
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)
About This Section

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

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 ureteral obstruction, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation and BMP signalling and regulation. GO annotations related to this gene include identical protein binding and SMAD binding. An important paralog of this gene is HERC1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SMURF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus. Cytoplasm. Cell membrane. Membrane raft. Note=Cytoplasmic in the presence of SMAD7.
Co-localizes with CAV1, SMAD7 and TGF-beta receptor in membrane rafts
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:

  • UniProtKB: Auto-ubiquitinated and ubiquitinated in the presence of RNF11 and UBE2D1. Ubiquitinated by the SCF(FBXL15)
    complex, leading to its degradation by the proteasome
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HAU4

  • 4/26 DME Specific Peptides for SMURF2 (Q9HAU4) (see all 26)
     PLPPGWE  GFKALQG  LQINPDS  NPYYGLF 

    SMURF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMURF2 Protein Expression
    REFSEQ proteins: NP_073576.1  
    ENSEMBL proteins: 
     ENSP00000463531   ENSP00000464432   ENSP00000262435   ENSP00000463804  
    Reactome Protein details: Q9HAU4
    Human Recombinant Protein Products for SMURF2: 
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    Novus Biologicals SMURF2 Lysate
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    Cloud-Clone Corp. Proteins for SMURF2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IDA14755250
    GO:0005622intracellular ----
    GO:0005634nucleus NAS11163210
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IBA--

    SMURF2 for ontologies           About GeneDecksing



    SMURF2 Antibody Products: 
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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)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR024928 E3_ub_ligase_SMURF1
     IPR018029 C2_membr_targeting
     IPR001202 WW_dom
     IPR000569 HECT

    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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for SMURF2 
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    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
    Inhib. RNA
    Products:
        
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SMURF2 (NM_022739)
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMURF2


    (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 SMURF2 About   (see all 18)                                                                                              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
    2Signaling by BMP
    Signaling by BMP0.35
    BMP receptor signaling0.31
    3Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer0.63
    Downregulation of SMAD2/3:SMAD4 transcriptional activity0.56
    Signaling by TGF-beta Receptor Complex0.61
    4TGF-beta receptor signaling activates SMADs
    Downregulation of TGF-beta receptor signaling0.90
    TGF-beta receptor signaling activates SMADs0.90
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SMURF2
        Common schema of ubiquitination
    Development TGF-beta receptor signaling

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

    2 Downloadable PowerPoint Slides of QIAGEN 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
    TGF-beta receptor signaling
    BMP receptor signaling


    5/13        Reactome Pathways for SMURF2 (see all 13)
        TGF-beta receptor signaling activates SMADs
    Generic Transcription Pathway
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    Adaptive Immune System
    Signaling by TGF-beta Receptor Complex


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMURF2

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

    5/220 Interacting proteins for SMURF2 (Q9HAU41, 2, 3 ENSP000002624354) via UniProtKB, MINT, STRING, and/or I2D (see all 220)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-8308229 MINT-8308249 MINT-8308205 MINT-8308301 MINT-8308602 MINT-8308274 I2D: score=8 STRING: ENSP00000332973
    SMAD2Q157962, 3, ENSP000002621604MINT-60925 MINT-8308318 MINT-8308333 MINT-61781 I2D: score=9 STRING: ENSP00000262160
    ATP5BP065762, 3, ENSP000002620304MINT-6503900 MINT-6504070 I2D: score=1 STRING: ENSP00000262030
    ECHS1P300842, 3, ENSP000003575354MINT-6503820 MINT-6503970 I2D: score=1 STRING: ENSP00000357535
    SMAD7O151052, 3, ENSP000002621584MINT-61786 I2D: score=7 STRING: ENSP00000262158
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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-dependent 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 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 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--

    Search CenterWatch for drugs/clinical trials and news about SMURF2 / SMUF2

    (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,
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    About This Section

    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

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMURF2
      QIAGEN 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 

    24/217 AceView cDNA sequences (see all 217):

    AW169828 AI656322 AF310676 Z41774 H50633 AI191037 AA235081 AA195635 
    BM850382 AA243792 BC009527 BM698397 BG619661 AI458557 AI797441 Z46141 
    CA314304 AI433426 AA148064 BM979149 BM855650 BX118296 AA705919 AA401253 

    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™, 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

    SMURF2 expression in normal human tissues (normalized intensities)      SMURF2 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) 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
     
     Ovary (Reproductive System)
             oocyte   
     
     Uterus (Reproductive System)
             endometrial endothelial cell   
     
     Chorion (Extraembryonic Tissues)
             chorion villus cells   

    See SMURF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMURF2

    SOURCE GeneReport for Unigene cluster: Hs.515011

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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

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

    Orthologs for SMURF2 gene from 7/15 species (see all 15)    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 86.85(n)
    98.53(a)
      427809  XM_425380.3  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 76.11(n)
    92.78(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
    58.98(n)1
    62.52(a)1
      369991  NM_079055.21  NP_523779.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RSP56
    E3 ubiquitin ligase of the NEDD4 family; involved ...
    39(a)
    1 → many
    V(410189-412618)


    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)
    About This Section
    Paralogs for SMURF2 gene
    HERC12  NEDD4L2  HECW22  HERC22  HECTD32  WWP22  HECW12  SMURF12  
    HUWE12  NEDD42  WWP12  ITCH2  
    18/24 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) 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

    10/2141 SNPs in SMURF2 are shown (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

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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: 605532    OMIM disorders: --

    17 diseases for SMURF2:    About MalaCards
    cerebral cavernous malformations-2    ureteral obstruction    cerebral cavernous malformation    cavernous malformation
    scleroderma    oral squamous cell carcinoma    squamous cell carcinoma    osteoarthritis
    esophageal squamous cell carcinoma    herpes simplex    esophagitis    glioblastoma
    cerebritis    melanoma    endotheliitis    breast cancer
    neuronitis


    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)
    About This Section

    PubMed articles for SMURF2 gene, integrated from 9 sources (see all 90):
    (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. (2000)
    2. Regulation of Smad degradation and activity by Smurf2, an E3 ubiquitin ligase. (PubMed id 11158580)1, 2, 9 Zhang Y.... Derynck R. (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. (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. (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. (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. (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. (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. (2009)
    9. AIMP1/p43 downregulates TGF-beta signaling via stabilization of smurf2. (PubMed id 18448069)1, 2 Lee Y.S.... Kim S. (2008)
    10. An RNF11: Smurf2 complex mediates ubiquitination of the AMSH protein. (PubMed id 14755250)1, 2 Li H. and Seth A. (2004)

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

    (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 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.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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