UFSP2

Protein identityUniProt · HPA

UniProt accession

Q9NUQ7

Gene

UFSP2

Ensembl

ENSG00000109775

Chromosome

4

Canonical length

469 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Canonical amino-acid sequenceUniProt

469 residues, UniProt reviewed canonical sequence.

>Q9NUQ7|UFSP2
     1  MVISESMDIL FRIRGGLDLA FQLATPNEIF LKKALKHVLS DLSTKLSSNA LVFRICHSSV
    61  YIWPSSDINT IPGELTDASA CKNILRFIQF EPEEDIKRKF MRKKDKKLSD MHQIVNIDLM
   121  LEMSTSLAAV TPIIERESGG HHYVNMTLPV DAVISVAPEE TWGKVRKLLV DAIHNQLTDM
   181  EKCILKYMKG TSIVVPEPLH FLLPGKKNLV TISYPSGIPD GQLQAYRKEL HDLFNLPHDR
   241  PYFKRSNAYH FPDEPYKDGY IRNPHTYLNP PNMETGMIYV VQGIYGYHHY MQDRIDDNGW
   301  GCAYRSLQTI CSWFKHQGYT ERSIPTHREI QQALVDAGDK PATFVGSRQW IGSIEVQLVL
   361  NQLIGITSKI LFVSQGSEIA SQGRELANHF QSEGTPVMIG GGVLAHTILG VAWNEITGQI
   421  KFLILDPHYT GAEDLQVILE KGWCGWKGPD FWNKDAYYNL CLPQRPNMI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UFSP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

52 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UFSP2.

Disease | AllUniProt

Conditions UFSP2 is implicated in, by any mechanism.

• Beukes hip dysplasia (HDB) MIM:142669
• Spondyloepimetaphyseal dysplasia, Di Rocco type (SEMDDR) MIM:617974
• Developmental and epileptic encephalopathy 106 (DEE106) MIM:620028

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 117 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spondyloepimetaphyseal dysplasia, di rocco type
• Hip dysplasia, Beukes type
• Developmental and epileptic encephalopathy 106
• Cerebral visual impairment and intellectual disability
• Developmental dysplasia of the hip

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.83

gnomAD pLI

0

gnomAD missense Z

0.48

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of proteolysis involved in protein catabolic process
• proteolysis
• regulation of intracellular estrogen receptor signaling pathway
• regulation of type II interferon production
• rescue of stalled ribosome
• ribosome disassembly

Molecular functions

• deUFMylase activity

Cellular components

• cytoplasm
• endoplasmic reticulum
• nucleus

Protein domainsUniProt · Pfam · InterPro

• UFSP1/2/DUB, catalytic domain
• Peptidase family C78
• UFSP2, second domain
• Ubiquitin-fold modifier 1 specific protease 2, N-terminal

KeywordsUniProt

• Acetylation
• Cytoplasm
• Dwarfism
• Endoplasmic reticulum
• Epilepsy
• Hydrolase
• Intellectual disability
• Nucleus
• Protease
• Thiol protease
• Ubl conjugation pathway

InteractionsUniProt · HPA

Protein binding partners of UFSP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TRIP4