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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UFSP2
UFM1 specific peptidase 2
Chromosome 4 Β· 4q35.1
NCBI Gene: 55325Ensembl: ENSG00000109775.12HGNC: HGNC:25640UniProt: B3KRI4
45PubMed Papers
23Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingdeUFMylase activityproteolysisregulation of intracellular estrogen receptor signaling pathwayspondyloepimetaphyseal dysplasia, di rocco typehip dysplasia, Beukes typedevelopmental and epileptic encephalopathy 106Intellectual disability
✦AI Summary

UFSP2 is a thiol-dependent isopeptidase that functions as the primary deUFMylating enzyme, specifically cleaving UFM1 (ubiquitin-fold modifier 1) from conjugated target proteins 1. The enzyme acts on multiple substrates including PD-L1, MRE11, ribosomal protein RPL26, and TRIP4, playing crucial roles in diverse cellular processes 23. UFSP2 mediates critical regulatory functions including PD-L1 destabilization through enhanced ubiquitination, which impacts tumor immune evasion 2, and DNA replication fork stability by modulating MRE11-mediated fork degradation in BRCA1/2-deficient cells 3. The enzyme also facilitates ribosome recycling from the endoplasmic reticulum by deUFMylating RPL26 1. Disease relevance is significant, as pathogenic UFSP2 variants cause distinct disorders: homozygous variants (e.g., V115E) result in severe neurodevelopmental disabilities and epilepsy with impaired deUFMylation activity 1, while heterozygous variants cause autosomal dominant spondyloepimetaphyseal dysplasia 4. In Alzheimer's disease, reduced UFSP2 levels correlate with hyperUFMylation and pathological tau accumulation 5. UFSP2 represents a potential therapeutic target, as covalent inhibitors can enhance UFMylation activity for combination cancer immunotherapy 2.

Sources cited
1
UFSP2 is a thiol-dependent deUFMylating enzyme and pathogenic variants cause neurodevelopmental disorders
PMID: 33473208
2
UFSP2 regulates PD-L1 stability and represents a potential therapeutic target for cancer immunotherapy
PMID: 36893266
3
UFSP2 modulates replication fork stability by affecting MRE11-mediated degradation in BRCA1/2-deficient cells
PMID: 38649452
4
Heterozygous UFSP2 variants cause spondyloepimetaphyseal dysplasia
PMID: 32755715
5
Reduced UFSP2 levels correlate with hyperUFMylation in Alzheimer's disease brain
PMID: 38903110
Disease Associationsβ“˜23
spondyloepimetaphyseal dysplasia, di rocco typeOpen Targets
0.71Strong
hip dysplasia, Beukes typeOpen Targets
0.64Moderate
developmental and epileptic encephalopathy 106Open Targets
0.61Moderate
Intellectual disabilityOpen Targets
0.55Moderate
SeizureOpen Targets
0.49Moderate
microcephalyOpen Targets
0.45Moderate
epilepsyOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.37Weak
Abnormal muscle toneOpen Targets
0.37Weak
Absent speechOpen Targets
0.37Weak
Delayed speech and language developmentOpen Targets
0.37Weak
developmental disabilityOpen Targets
0.37Weak
Failure to thriveOpen Targets
0.37Weak
StrabismusOpen Targets
0.37Weak
undetermined early-onset epileptic encephalopathyOpen Targets
0.37Weak
developmental and epileptic encephalopathy, 1Open Targets
0.34Weak
genetic developmental and epileptic encephalopathyOpen Targets
0.34Weak
infantile epileptic-dyskinetic encephalopathyOpen Targets
0.34Weak
Olivopontocerebellar hypoplasiaOpen Targets
0.34Weak
Spasticity - intellectual disability - X-linked epilepsyOpen Targets
0.34Weak
Beukes hip dysplasiaUniProt
Developmental and epileptic encephalopathy 106UniProt
Spondyloepimetaphyseal dysplasia, Di Rocco typeUniProt
Pathogenic Variants9
NM_018359.5(UFSP2):c.1283A>G (p.His428Arg)Likely pathogenic
Spondyloepimetaphyseal dysplasia, di rocco type|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 428
NM_018359.5(UFSP2):c.1277A>C (p.Asp426Ala)Pathogenic
Spondyloepimetaphyseal dysplasia, di rocco type|Hip dysplasia, Beukes type
β˜…β˜…β˜†β˜†2018β†’ Residue 426
NM_018359.5(UFSP2):c.1277A>G (p.Asp426Gly)Likely pathogenic
Spondyloepimetaphyseal dysplasia, di rocco type
β˜…β˜†β˜†β˜†2025β†’ Residue 426
NM_018359.5(UFSP2):c.1376A>C (p.Asn459Thr)Likely pathogenic
Developmental dysplasia of the hip
β˜…β˜†β˜†β˜†2024β†’ Residue 459
NM_018359.5(UFSP2):c.623del (p.Asn208fs)Likely pathogenic
Developmental and epileptic encephalopathy 106
β˜…β˜†β˜†β˜†2024β†’ Residue 208
NM_018359.5(UFSP2):c.110_111del (p.His37fs)Pathogenic
Developmental and epileptic encephalopathy 106
β˜…β˜†β˜†β˜†2023β†’ Residue 37
NM_018359.5(UFSP2):c.1373A>G (p.Tyr458Cys)Likely pathogenic
Cerebral visual impairment and intellectual disability
β˜…β˜†β˜†β˜†2015β†’ Residue 458
NM_018359.5(UFSP2):c.905G>C (p.Cys302Ser)Pathogenic
Spondyloepimetaphyseal dysplasia, di rocco type
β˜†β˜†β˜†β˜†2021β†’ Residue 302
NM_018359.5(UFSP2):c.868T>C (p.Tyr290His)Pathogenic
Hip dysplasia, Beukes type
β˜†β˜†β˜†β˜†2015β†’ Residue 290
View on ClinVar β†—
Related Genes
DDRGK1Protein interaction91%UFC1Protein interaction86%UFM1Protein interaction77%ODR4Protein interaction74%UBA5Protein interaction63%CDK5RAP3Protein interaction56%
Tissue Expression6 tissues
Heart
100%
Ovary
71%
Brain
52%
Liver
31%
Lung
31%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
UFSP2DDRGK1UFC1UFM1ODR4UBA5CDK5RAP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NUQ7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.56–0.94]
RankingsWhere UFSP2 stands among ~20K protein-coding genes
  • #9,543of 20,598
    Most Researched45
  • #2,975of 5,498
    Most Pathogenic Variants9
  • #8,673of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedUFSP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.
PMID: 38762759
Autophagy Β· 2024
1.00
2
UFL1 triggers replication fork degradation by MRE11 in BRCA1/2-deficient cells.
PMID: 38649452
Nat Chem Biol Β· 2024
0.90
3
Dysregulation of PD-L1 by UFMylation imparts tumor immune evasion and identified as a potential therapeutic target.
PMID: 36893266
Proc Natl Acad Sci U S A Β· 2023
0.80
4
The UFMylation pathway is impaired in Alzheimer's disease.
PMID: 39696466
Mol Neurodegener Β· 2024
0.70
5
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
PMID: 33473208
Genet Med Β· 2021
0.60