DESI2: Desumoylating Isopeptidase 2
A deSUMOylating enzyme involved in protein stability, cell cycle regulation, and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | DESI2 |
|---|---|
| Full Name | Desumoylating Isopeptidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 23551 ncbi.nlm.nih.gov/gene/23551 |
| Ensembl ID | ENSG00000143321 |
| UniProt ID | Q9BSY9 |
| OMIM ID | 615075 |
| HGNC ID | 28476 |
| Aliases | C1orf38, FLJ11273, PPP1R121 |
Description
DESI2 encodes a member of the desumoylating isopeptidase family. The protein specifically removes the small ubiquitin-like modifier (SUMO) from target proteins, thereby regulating their localization, stability, and activity. DESI2 is involved in cell cycle progression, DNA damage response, and transcriptional regulation. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of SUMOylation pathways; DESI2 overexpression may alter protein homeostasis and promote tumorigenesis. | COSMIC; literature |
| Developmental disorders | Rare variants in DESI2 have been reported in patients with intellectual disability and congenital anomalies. | ClinVar; OMIM |
| Neurodegenerative diseases | SUMOylation imbalance implicated in protein aggregation; DESI2 role under investigation. | NCBI Gene; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| A549 | 7.5 | Lung carcinoma |
| MCF7 | 6.2 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Trp) | Missense | <0.01% | Unknown; predicted damaging (SIFT, PolyPhen) |
| c.832G>A (p.Gly278Arg) | Missense | <0.01% | Unknown; likely benign |
| c.1045_1047del (p.Lys349del) | In-frame deletion | <0.01% | Unknown; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • SUMO-specific isopeptidase activity (GO:0016929) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • protein desumoylation (GO:0016925) |
| • cell cycle (GO:0007049) | • DNA damage response (GO:0006974) |
Pathways
• SUMOylation pathway (Reactome: R-HSA-2990846)
• Cellular responses to stress (Reactome: R-HSA-2262752)
Protein Summary
DESI2 is a 349-amino acid protein containing a conserved peptidase domain (C48 family). It catalyzes the removal of SUMO from modified proteins, reversing SUMOylation. The enzyme is localized in both the nucleus and cytoplasm and is expressed in multiple tissues, with highest levels in testis and brain. DESI2 plays a role in cell cycle regulation and DNA repair. Its dysregulation has been implicated in cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DESI2 Knockout HEK293 Cell Line | EDJ-KQ51273 | Human | 51029 | Details Get a Quote |
| DESI2 Knockout HeLa Cell Line | EDJ-KQ56214 | Human | 51029 | Details Get a Quote |
| DESI2 Knockout A-549 Cell Line | EDJ-KQ64705 | Human | 51029 | Details Get a Quote |
| DESI2 Knockout HCT 116 Cell Line | EDJ-KQ73151 | Human | 51029 | Details Get a Quote |
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