SMURF2
SMAD Specific E3 Ubiquitin Protein Ligase 2
Gene Information Card
| Symbol | SMURF2 |
|---|---|
| Full Name | SMAD Specific E3 Ubiquitin Protein Ligase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 64750 ncbi.nlm.nih.gov/gene/64750 |
| Ensembl ID | ENSG00000108821 |
| UniProt ID | Q9HAU4 |
| OMIM ID | 605532 |
| HGNC ID | 16809 |
| Aliases | SMURF2, HECT-type E3 ubiquitin ligase SMURF2, SMAD ubiquitination regulatory factor 2 |
Description
SMURF2 encodes a HECT domain-containing E3 ubiquitin ligase that targets SMAD proteins and other substrates for proteasomal degradation, thereby negatively regulating the TGF-beta/BMP signaling pathway. It also plays roles in cell polarity, migration, and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of TGF-beta signaling via altered SMURF2 expression or mutation | PMID: 21502567 |
| Osteoarthritis | SMURF2-mediated degradation of SMAD1/5 in chondrocytes | PMID: 22936354 |
| Pulmonary fibrosis | Impaired SMURF2 function leading to excessive TGF-beta signaling | PMID: 20010870 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Heart | 8.5 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney |
| HeLa | 8.9 | Cervical carcinoma |
| A549 | 7.5 | Lung carcinoma |
| MCF7 | 6.3 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1195C>T (p.Arg399Trp) | Missense | <0.1% | Altered substrate binding |
| c.1670A>G (p.Tyr557Cys) | Missense | <0.1% | Reduced catalytic activity |
| c.2146_2147insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair the HECT domain or disrupt substrate recognition lead to reduced ubiquitination activity.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may enhance degradation of tumor suppressors.
Dominant Negative (DN)
Truncated or inactive forms may interfere with wild-type SMURF2 function.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • SMAD binding | • negative regulation of TGF-beta receptor signaling pathway |
| • cytoplasm | • nucleus |
Pathways
• TGF-beta signaling pathway (KEGG hsa04350)
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• SMAD2/SMAD3:SMAD4 heterotrimer regulation
Protein Summary
SMURF2 is a 748-amino acid HECT-type E3 ubiquitin ligase that contains a C2 domain, two WW domains, and a HECT domain. It ubiquitinates SMAD1, SMAD2, SMAD3, and other targets, promoting their degradation and fine-tuning TGF-beta/BMP signaling. It also interacts with proteins involved in cell adhesion and cytoskeletal dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMURF2 Knockout HEK293 Cell Line | EDJ-KQ406 | Human | 64750 | Details Get a Quote |
| SMURF2 Knockout A-549 Cell Line | EDJ-KQ18658 | Human | 64750 | Details Get a Quote |
| SMURF2 Knockout HCT 116 Cell Line | EDJ-KQ18659 | Human | 64750 | Details Get a Quote |
| SMURF2 Knockout HeLa Cell Line | EDJ-KQ18660 | Human | 64750 | Details Get a Quote |
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