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

Gene ID: 64750, updated on 11-Apr-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 transferase activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of trophoblast cell migration; and ubiquitin-dependent SMAD protein catabolic process. Located in nuclear speck. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung (RPKM 7.9), testis (RPKM 7.6) and 25 other tissues See more
Orthologs
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Genomic context

Location:
17q23.3-q24.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64542282..64662307, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65412034..65532065, complement)
105.20220307 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?

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 IBA
Inferred from Biological aspect of Ancestor
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)

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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_022739.4NP_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_2023_10

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