SMAD-Specific E3 Ubiquitin Protein Ligase 2

Alternative Names

  • SMURF2
  • SMAD Ubiquitination Regulatory Factor 2
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OMIM Number

605532

NCBI Gene ID

64750

Uniprot ID

Q9HAU4

Length

120,026 bases

No. of Exons

20

No. of isoforms

1

Protein Name

E3 ubiquitin-protein ligase SMURF2

Molecular Mass

86196 Da

Amino Acid Count

748

Genomic Location

chr17:64,542,282-64,662,307

Gene Map Locus
17q23.3-q24.1

Description

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. [From Alliance of Genome Resources]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022739.4:c.1921A>GEgyptNC_000017.11:g.64547750T>CLikely PathogenicNM_022739.4:c.1921A>G; NP_073576.1:p.Thr641Ala
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