SENP2: Sentrin/SUMO-Specific Protease 2
A key regulator of SUMOylation in cellular processes and disease
Gene Information Card
| Symbol | SENP2 |
|---|---|
| Full Name | SUMO specific peptidase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 59343 ncbi.nlm.nih.gov/gene/59343 |
| Ensembl ID | ENSG00000163904 |
| UniProt ID | Q9HC62 |
| OMIM ID | 608271 |
| HGNC ID | 10716 |
| Aliases | AXAM2, SMT3IP2, SUMO1/sentrin specific peptidase 2, SUSP1 |
Description
SENP2 (SUMO specific peptidase 2) encodes a cysteine protease that specifically deconjugates SUMO (small ubiquitin-like modifier) from target proteins. It localizes to the nuclear pore complex and regulates SUMOylation dynamics, impacting transcription, cell cycle, and DNA repair. Alternative splicing yields multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease | SENP2 mutations impair SUMOylation of cardiac transcription factors (e.g., GATA4), disrupting heart development | ClinVar, OMIM |
| Hepatocellular carcinoma | SENP2 overexpression reduces SUMOylation of p53 and other tumor suppressors, promoting cell proliferation | COSMIC, PubMed |
| Breast cancer | Altered SENP2 expression affects SUMOylation of estrogen receptor alpha, influencing hormone sensitivity | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Liver | 8.5 | Medium |
| Brain | 6.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.4 | Hepatocellular carcinoma |
| MCF7 | 9.7 | Breast cancer |
| HEK293 | 8.1 | Embryonic kidney |
| K562 | 4.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | <0.01% | Reduced catalytic activity; associated with congenital heart disease |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Impaired nuclear localization; linked to developmental delay |
| c.1462_1463insA | Frameshift | <0.01% | Loss of function; observed in hepatocellular carcinoma |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish protease activity, leading to altered SUMOylation of substrates.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may enhance deSUMOylation of tumor suppressors.
Dominant Negative (DN)
Some missense variants may interfere with wild-type SENP2 function by forming inactive dimers.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SUMOylation (Reactome: R-HSA-2990846)
• Regulation of p53 activity (Reactome: R-HSA-5633007)
• SUMO E3 ligases SUMOylate target proteins (Reactome: R-HSA-3108232)
Protein Summary
SENP2 is a 589-amino acid cysteine protease with a catalytic domain (C48 family) and an N-terminal regulatory region. It localizes to the nuclear pore complex via interaction with NUP153. The enzyme removes SUMO1, SUMO2, and SUMO3 from modified proteins, regulating transcription, chromatin remodeling, and DNA repair. Dysregulation contributes to cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SENP2 Knockout HEK293 Cell Line | EDJ-KQ331 | Human | 59343 | Details Get a Quote |
| SENP2 Knockout A-549 Cell Line | EDJ-KQ18497 | Human | 59343 | Details Get a Quote |
| SENP2 Knockout HCT 116 Cell Line | EDJ-KQ18498 | Human | 59343 | Details Get a Quote |
| SENP2 Knockout HeLa Cell Line | EDJ-KQ18499 | Human | 59343 | Details Get a Quote |
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