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

    Gene ID: 64750, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in lung (RPKM 7.9), testis (RPKM 7.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_022739.4NP_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:13137
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      COG5021
      Location:159745
      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_005257585.4XP_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:19124
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      COG5021
      Location:146732
      HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    2. XM_047436546.1XP_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_054316941.1XP_054172916.1  E3 ubiquitin-protein ligase SMURF2 isoform X2

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

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

    RNA

    1. XR_008484917.1 RNA Sequence