UFSP2 Gene
UFM1-Specific Peptidase 2
Gene Information Card
| Symbol | UFSP2 |
|---|---|
| Full Name | UFM1 Specific Peptidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 55325 ncbi.nlm.nih.gov/gene/55325 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9NUQ7 |
| OMIM ID | 611482 |
| HGNC ID | 25640 |
| Aliases | C4orf20, FLJ20637, UfSP2 |
Description
UFSP2 encodes a cysteine protease that specifically cleaves the C-terminal tail of UFM1 (ubiquitin-fold modifier 1), a ubiquitin-like protein. This cleavage is essential for UFM1 maturation and its subsequent conjugation to target proteins. UFSP2 also deconjugates UFM1 from modified proteins, playing a key role in the UFMylation pathway, which is involved in endoplasmic reticulum homeostasis, hematopoiesis, and bone development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Beukes Hip Dysplasia (BHD) | Missense mutations (e.g., p.Tyr291His) impair UFSP2 catalytic activity, disrupting UFM1 processing and leading to abnormal endochondral ossification. | OMIM #142669; PMID: 31911637 |
| Spastic Paraplegia, Intellectual Disability, and Hearing Loss | Homozygous loss-of-function variants (e.g., p.Arg221*) cause complete loss of UFSP2 activity, affecting neuronal UFMylation and ER stress response. | ClinVar; PMID: 32860008 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.2 | Low |
| Brain | 5.1 | Low |
| Testis | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.0 | Embryonic kidney cells |
| K562 | 6.5 | Chronic myelogenous leukemia |
| HeLa | 5.8 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.871T>C (p.Tyr291His) | Missense | Rare | Reduced catalytic activity; associated with Beukes Hip Dysplasia |
| c.661C>T (p.Arg221*) | Nonsense | Rare | Loss of function; associated with spastic paraplegia and intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg221*) lead to truncated, non-functional protein, causing autosomal recessive neurological disorder.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Tyr291His) may act as dominant-negative by forming inactive dimers, leading to autosomal dominant Beukes Hip Dysplasia.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity (GO:0008234) | • hydrolase activity (GO:0016787) |
| • UFM1-specific protease activity (GO:0030643) | • UFM1 processing (GO:0036265) |
| • UFM1 deconjugation (GO:0036266) | • cytosol (GO:0005829) |
| • nucleus (GO:0005634) |
Pathways
• UFM1 conjugation pathway (R-HSA-8866654)
• Endoplasmic reticulum stress response (R-HSA-381119)
Protein Summary
UFSP2 is a 469-amino acid cysteine protease belonging to the UFM1-specific peptidase family. It contains a catalytic triad (Cys53, His152, Asp174) essential for its proteolytic activity. The protein is primarily cytosolic and nuclear, and its structure includes a UFM1-binding domain. UFSP2 is critical for UFM1 maturation and recycling, influencing cellular stress responses and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UFSP2 Knockout HEK293 Cell Line | EDJ-KQ16020 | Human | 55325 | Details Get a Quote |
| UFSP2 Knockout A-549 Cell Line | EDJ-KQ47115 | Human | 55325 | Details Get a Quote |
| UFSP2 Knockout HCT 116 Cell Line | EDJ-KQ47116 | Human | 55325 | Details Get a Quote |
| UFSP2 Knockout HeLa Cell Line | EDJ-KQ47117 | Human | 55325 | Details Get a Quote |
