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    SMURF2 SMAD specific E3 ubiquitin protein ligase 2 [ Homo sapiens (human) ]

    Gene ID: 64750, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SMURF2provided by HGNC
    Official Full Name
    SMAD specific E3 ubiquitin protein ligase 2provided by HGNC
    Primary source
    HGNC:HGNC:16809
    See related
    Ensembl:ENSG00000108854 MIM:605532; AllianceGenome:HGNC:16809
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables SMAD binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of trophoblast cell migration; and ubiquitin-dependent protein catabolic process. Located in nuclear speck. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in lung (RPKM 7.9), testis (RPKM 7.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMURF2 in Genome Data Viewer
    Location:
    17q23.3-q24.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64542282..64662307, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65412034..65532065, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62538400..62658425, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12598 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62503269-62503885 Neighboring gene microRNA 5047 Neighboring gene DEAD-box helicase 5 Neighboring gene centrosomal protein 95 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8846 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:62658719-62659277 Neighboring gene ARHGAP27P1-BPTFP1-KPNA2P3 readthrough, transcribed pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:62702502-62703701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12600 Neighboring gene U5 small nuclear ribonucleoprotein 200 kDa helicase-like Neighboring gene MICOS10 pseudogene 2 Neighboring gene karyopherin subunit alpha 2 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Effect of SMURF2 targeting on susceptibility to MEK inhibitors in melanoma. Smith MP, et al. J Natl Cancer Inst, 2013 Jan 2. PMID 23250956, Free PMC Article
    2. Smad ubiquitination regulatory factor-2 in progressive supranuclear palsy. Nakamura M, et al. Neuropathol Appl Neurobiol, 2011 Apr. PMID 20819168
    3. E3 ubiquitin ligase SMURF2 prevents colorectal cancer by reducing the stability of the YY1 protein and inhibiting the SENP1/c-myc axis. Gao Q, et al. Gene Ther, 2023 Feb. PMID 34545207
    4. Smad ubiquitination regulatory factor 2 promotes metastasis of breast cancer cells by enhancing migration and invasiveness. Jin C, et al. Cancer Res, 2009 Feb 1. PMID 19155312, Free PMC Article
    5. Enriching the Arsenal of Pharmacological Tools against MICAL2. Barravecchia I, et al. Molecules, 2021 Dec 11. PMID 34946600, Free PMC Article

    See all (206) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AIMP2 restricts EV71 replication by recruiting SMURF2 to promote the degradation of 3D polymerase.
      Title: AIMP2 restricts EV71 replication by recruiting SMURF2 to promote the degradation of 3D polymerase.
    2. FOXO1 regulates RUNX2 ubiquitination through SMURF2 in calcific aortic valve disease.
      Title: FOXO1 regulates RUNX2 ubiquitination through SMURF2 in calcific aortic valve disease.
    3. Smurf2-Mediated Ubiquitination of FOXO4 Regulates Oxygen-glucose Deprivation/Reperfusion-induced Pyroptosis of Cortical Neurons.
      Title: Smurf2-Mediated Ubiquitination of FOXO4 Regulates Oxygen-glucose Deprivation/Reperfusion-induced Pyroptosis of Cortical Neurons.
    4. Loss of SMURF2 expression enhances RACK1 stability and promotes ovarian cancer progression.
      Title: Loss of SMURF2 expression enhances RACK1 stability and promotes ovarian cancer progression.
    5. Flavin containing monooxygenase 2 regulates renal tubular cell fibrosis and paracrine secretion via SMURF2 in AKI-CKD transformation.
      Title: Flavin containing monooxygenase 2 regulates renal tubular cell fibrosis and paracrine secretion via SMURF2 in AKI‑CKD transformation.
    6. Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma.
      Title: Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma.
    7. SMURF2 facilitates ubiquitin-mediated degradation of ID2 to attenuate lung cancer cell proliferation.
      Title: SMURF2 facilitates ubiquitin-mediated degradation of ID2 to attenuate lung cancer cell proliferation.
    8. E3 ubiquitin ligase SMURF2 prevents colorectal cancer by reducing the stability of the YY1 protein and inhibiting the SENP1/c-myc axis.
      Title: E3 ubiquitin ligase SMURF2 prevents colorectal cancer by reducing the stability of the YY1 protein and inhibiting the SENP1/c-myc axis.
    9. LncRNA FIRRE stimulates PTBP1-induced Smurf2 decay, stabilizes B-cell receptor, and promotes the development of diffuse large B-cell lymphoma.
      Title: LncRNA FIRRE stimulates PTBP1-induced Smurf2 decay, stabilizes B-cell receptor, and promotes the development of diffuse large B-cell lymphoma.
    10. Enriching the Arsenal of Pharmacological Tools against MICAL2.
      Title: Enriching the Arsenal of Pharmacological Tools against MICAL2.
    Submit: New GeneRIF Correction See all GeneRIFs (88)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138150, DKFZp686F0270

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway, planar cell polarity pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of BMP signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of trophoblast cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transforming growth factor beta receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase SMURF2
    Names
    E3 ubiquitin ligase SMURF2
    HECT-type E3 ubiquitin transferase SMURF2
    SMAD ubiquitination regulatory factor 2
    hSMURF2
    NP_073576.1
    XP_005257642.1
    XP_047292502.1
    XP_054172915.1
    XP_054172916.1
    XP_054172917.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_022739.4 → NP_073576.1  E3 ubiquitin-protein ligase SMURF2

      See identical proteins and their annotated locations for NP_073576.1

      Status: VALIDATED

      Source sequence(s)
      AC009994, AC132812, AK002019, AY014180, BC009527, BC051283, BP363931, CB267500, CN310238, CN370887
      Consensus CDS
      CCDS32707.1
      UniProtKB/Swiss-Prot
      Q52LL1, Q9H260, Q9HAU4
      Related
      ENSP00000262435.9, ENST00000262435.14
      Conserved Domains (2) summary
      cd08382
      Location:13 → 137
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      COG5021
      Location:159 → 745
      HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      64542282..64662307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257585.4 → XP_005257642.1  E3 ubiquitin-protein ligase SMURF2 isoform X2

      See identical proteins and their annotated locations for XP_005257642.1

      Conserved Domains (2) summary
      cd08382
      Location:19 → 124
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      COG5021
      Location:146 → 732
      HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]

    2. XM_047436546.1 → XP_047292502.1  E3 ubiquitin-protein ligase SMURF2 isoform X1

    RNA

    1. XR_007065425.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      65412034..65532065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316941.1 → XP_054172916.1  E3 ubiquitin-protein ligase SMURF2 isoform X2

    2. XM_054316940.1 → XP_054172915.1  E3 ubiquitin-protein ligase SMURF2 isoform X1

    3. XM_054316942.1 → XP_054172917.1  E3 ubiquitin-protein ligase SMURF2 isoform X3

    RNA

    1. XR_008484917.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAU4.1 GenPept UniProtKB/Swiss-Prot:Q9HAU4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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