• Gene id: 64750

Gene Summary

• Gene Symbol: SMURF2   Gene   UCSC   Ensembl
• Gene name: SMAD specific E3 ubiquitin protein ligase 2
• Alternate names: E3 ubiquitin-protein ligase SMURF2, E3 ubiquitin ligase SMURF2, HECT-type E3 ubiquitin transferase SMURF2, SMAD ubiquitination regulatory factor 2, hSMURF2,
• Gene location: 17q23.3-q24.1 (64662306: 64542281)     Exons: 19     NC_000017.11
• OMIM: 602109

Protein Summary

• Protein general information: Q9HAU4  
  • Name: E3 ubiquitin protein ligase SMURF2 (hSMURF2) (EC 2.3.2.26) (HECT type E3 ubiquitin transferase SMURF2) (SMAD ubiquitination regulatory factor 2) (SMAD specific E3 ubiquitin protein ligase 2)
  • Length: 748  
  • Mass: 86196
  • Tissue specificity: Widely expressed.
• Sequence:

  MSNPGGRRNGPVKLRLTVLCAKNLVKKDFFRLPDPFAKVVVDGSGQCHSTDTVKNTLDPKWNQHYDLYIGKSDSV
  TISVWNHKKIHKKQGAGFLGCVRLLSNAINRLKDTGYQRLDLCKLGPNDNDTVRGQIVVSLQSRDRIGTGGQVVD
  CSRLFDNDLPDGWEERRTASGRIQYLNHITRTTQWERPTRPASEYSSPGRPLSCFVDENTPISGTNGATCGQSSD
  PRLAERRVRSQRHRNYMSRTHLHTPPDLPEGYEQRTTQQGQVYFLHTQTGVSTWHDPRVPRDLSNINCEELGPLP
  PGWEIRNTATGRVYFVDHNNRTTQFTDPRLSANLHLVLNRQNQLKDQQQQQVVSLCPDDTECLTVPRYKRDLVQK
  LKILRQELSQQQPQAGHCRIEVSREEIFEESYRQVMKMRPKDLWKRLMIKFRGEEGLDYGGVAREWLYLLSHEML
  NPYYGLFQYSRDDIYTLQINPDSAVNPEHLSYFHFVGRIMGMAVFHGHYIDGGFTLPFYKQLLGKSITLDDMELV
  DPDLHNSLVWILENDITGVLDHTFCVEHNAYGEIIQHELKPNGKSIPVNEENKKEYVRLYVNWRFLRGIEAQFLA
  LQKGFNEVIPQHLLKTFDEKELELIICGLGKIDVNDWKVNTRLKHCTPDSNIVKWFWKAVEFFDEERRARLLQFV
  TGSSRVPLQGFKALQGAAGPRLFTIHQIDACTNNLPKAHTCFNRIDIPPYESYEKLYEKLLTAIEETCGFAVE

• Structural information:
  • Protein Domains: (1..11-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (157..19-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (251..28-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (297-)
  • Interpro: IPR000008  IPR035892  IPR024928  IPR000569  IPR035983   IPR001202  IPR036020  
  • Prosite: PS50004 PS50237 PS01159 PS50020
  • CDD: cd00078 cd00201
  • PDB: 1ZVD 2DJY 2JQZ 2KXQ 2LTZ 6FX4
  • PDBsum: 1ZVD 2DJY 2JQZ 2KXQ 2LTZ 6FX4
  • DIP: 33061
  • STRING: ENSP00000262435
• Other Databases: GeneCards:  SMURF2  Malacards:  SMURF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901165	positive regulation of trophoblast cell migration	IDA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0045732	positive regulation of protein catabolic process	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0030579	ubiquitin-dependent SMAD protein catabolic process	IBA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IBA	biological process
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005160	transforming growth factor beta receptor binding	IEA	molecular function
GO:0046332	SMAD binding	IEA	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0030579	ubiquitin-dependent SMAD protein catabolic process	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04120	Ubiquitin mediated proteolysis
hsa04350	TGF-beta signaling pathway
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R