UFSP2

Chr 4q35.1

UFM1 specific peptidase 2

Aliases:: FLJ11200
MANE:: ENST00000264689.11

OMIM: 611482 ↗NCBI: 55325 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

UFSP2 · Q9NUQ7

v62025-08-01

Predicted Aligned Error matrix for UFSP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.2/ 100

Very high

469 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)13%
Low(50–70)2%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spondyloepimetaphyseal dysplasia, di rocco type
0.71
hip dysplasia, Beukes type
0.64
developmental and epileptic encephalopathy 106
0.61
Intellectual disability
0.55
Seizure
0.49
Global developmental delay
0.46
microcephaly
0.45
epilepsy
0.37
undetermined early-onset epileptic encephalopathy
0.37
Delayed speech and language development
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ufm1-specific protease 2

Thiol-dependent isopeptidase that specifically cleaves UFM1, a ubiquitin-like modifier protein, from conjugated proteins, such as CD274/PD-L1, CYB5R3, DDRGK1, MRE11, RPL26/uL24, TRIP4 and RPL26/uL24 (PubMed:25219498, PubMed:27351204, PubMed:27926783, PubMed:30783677, PubMed:31595041, PubMed:32160526, PubMed:33473208, PubMed:35394863, PubMed:35926457, PubMed:36543799, PubMed:36893266, PubMed:37795761, PubMed:38383785). While it is also able to mediate the processing of UFM1 precursors, a prerequisite for conjugation reactions, UFSP2 mainly acts as a protein deUFMylase that mediates deconjugation of UFM1 from target proteins (PubMed:27926783). Mediates deUFMylation of RPL26/uL24, a critical step to release the UFM1 ribosome E3 ligase (UREL) complex during the recycling of 60S ribosome subunits from the endoplasmic reticulum (PubMed:38383785). Catalyzes deUFMylation of TRIP4, regulating intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation (PubMed:25219498)