Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55325
Gene name	UFM1 specific peptidase 2
Gene symbol	UFSP2
Synonyms (NCBI Gene)	BHDC4orf20DEE106SEMDDR
Chromosome	4
Chromosome location	4q35.1
Summary	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 expose

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029446	hsa-miR-26b-5p	Microarray	19088304
MIRT051057	hsa-miR-16-5p	CLASH	23622248
MIRT049780	hsa-miR-92a-3p	CLASH	23622248
MIRT035904	hsa-miR-1287-5p	CLASH	23622248
MIRT2142428	hsa-miR-1244	CLIP-seq
MIRT2142429	hsa-miR-1298	CLIP-seq
MIRT2142430	hsa-miR-3143	CLIP-seq
MIRT2142431	hsa-miR-325	CLIP-seq
MIRT2142432	hsa-miR-543	CLIP-seq
MIRT2142433	hsa-miR-628-3p	CLIP-seq
MIRT2142428	hsa-miR-1244	CLIP-seq
MIRT2142431	hsa-miR-325	CLIP-seq
MIRT2362946	hsa-miR-3691-3p	CLIP-seq
MIRT2362947	hsa-miR-4659a-3p	CLIP-seq
MIRT2362948	hsa-miR-4659b-3p	CLIP-seq
MIRT2362949	hsa-miR-4699-5p	CLIP-seq
MIRT2362950	hsa-miR-548ae	CLIP-seq
MIRT2362951	hsa-miR-548aj	CLIP-seq
MIRT2362952	hsa-miR-548am	CLIP-seq
MIRT2362953	hsa-miR-548x	CLIP-seq
MIRT2142433	hsa-miR-628-3p	CLIP-seq
MIRT2142428	hsa-miR-1244	CLIP-seq
MIRT2656992	hsa-miR-1278	CLIP-seq
MIRT2142429	hsa-miR-1298	CLIP-seq
MIRT2656993	hsa-miR-1976	CLIP-seq
MIRT2656994	hsa-miR-205	CLIP-seq
MIRT2656995	hsa-miR-3140-3p	CLIP-seq
MIRT2142430	hsa-miR-3143	CLIP-seq
MIRT2656996	hsa-miR-3185	CLIP-seq
MIRT2142431	hsa-miR-325	CLIP-seq
MIRT2656997	hsa-miR-370	CLIP-seq
MIRT2656998	hsa-miR-4762-5p	CLIP-seq
MIRT2142432	hsa-miR-543	CLIP-seq
MIRT2656999	hsa-miR-579	CLIP-seq
MIRT2657000	hsa-miR-614	CLIP-seq
MIRT2142433	hsa-miR-628-3p	CLIP-seq
MIRT2142428	hsa-miR-1244	CLIP-seq
MIRT2142429	hsa-miR-1298	CLIP-seq
MIRT2142430	hsa-miR-3143	CLIP-seq
MIRT2694730	hsa-miR-3199	CLIP-seq
MIRT2142431	hsa-miR-325	CLIP-seq
MIRT2694731	hsa-miR-4786-5p	CLIP-seq
MIRT2694732	hsa-miR-518d-5p	CLIP-seq
MIRT2694733	hsa-miR-519b-5p	CLIP-seq
MIRT2694734	hsa-miR-519c-5p	CLIP-seq
MIRT2694735	hsa-miR-520c-5p	CLIP-seq
MIRT2694736	hsa-miR-526a	CLIP-seq
MIRT2142432	hsa-miR-543	CLIP-seq
MIRT2142433	hsa-miR-628-3p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25219498, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	35926457
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	25219498
GO:0008015	Process	Blood circulation	TAS	1400360
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0032649	Process	Regulation of type II interferon production	IEA
GO:0032790	Process	Ribosome disassembly	IDA	38383785
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IMP	25219498
GO:0071567	Function	DeUFMylase activity	IBA
GO:0071567	Function	DeUFMylase activity	IDA	31595041, 35926457, 36543799, 36893266, 37795761, 38383785
GO:0071567	Function	DeUFMylase activity	IEA
GO:0071567	Function	DeUFMylase activity	IMP	25219498, 27926783, 32160526, 33473208
GO:0072344	Process	Rescue of stalled ribosome	IDA	38383785
GO:1903051	Process	Negative regulation of proteolysis involved in protein catabolic process	IDA	36543799

MIM	HGNC	e!Ensembl
611482	25640	ENSG00000109775

Q9NUQ7

Protein name

Ufm1-specific protease 2 (UfSP2) (EC 3.4.22.-)

Protein function

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:2792

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07910	Peptidase_C78	276 → 461	Peptidase family C78	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:33473208}.

Sequence

MVISESMDILFRIRGGLDLAFQLATPNEIFLKKALKHVLSDLSTKLSSNALVFRICHSSV
YIWPSSDINTIPGELTDASACKNILRFIQFEPEEDIKRKFMRKKDKKLSDMHQIVNIDLM
LEMSTSLAAVTPIIERESGGHHYVNMTLPVDAVISVAPEETWGKVRKLLVDAIHNQLTDM
EKCILKYMKGTSIVVPEPLHFLLPGKKNLVTISYPSGIPDGQLQAYRKELHDLFNLPHDR
PYFKRSNAYHFPDEPYKDGYIRNPHTYLNPPNMETGMIYVVQGIYGYHHYMQDRIDDNGW
GCAYRSLQTICSWFKHQGYTERSIPTHREIQQALVDAGDKPATFVGSRQWIGSIEVQLVL
NQLIGITSKILFVSQGSEIASQGRELANHFQSEGTPVMIGGGVLAHTILGVAWNEITGQI
KFLILDPHYTGAEDLQVILEKGWCGWKGPDFWNKDAYYNLCLPQRPNMI

Sequence length

469

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs544351411	RCV000210393	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 106	Pathogenic	rs760594879	RCV003444147	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental dysplasia of the hip	Likely pathogenic	rs2477666289	RCV004798941	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hip dysplasia, Beukes type	Pathogenic	rs796052130, rs1554022725	RCV000186597 RCV000590994	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal dysplasia, di rocco type	Pathogenic; Likely pathogenic	rs2153279702, rs1554022725, rs2095515802	RCV001420353 RCV000627068 RCV001172316	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEUKES HIP DYSPLASIA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSPLASIA OF THE HIP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal-onset seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Olivopontocerebellar hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe global developmental delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UFSP2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UFSP2-related neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	21228277		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33473208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIP DYSPLASIA, BEUKES TYPE	Hip Dysplasia	UNIPROT_DG	26428751		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HIP DYSPLASIA, BEUKES TYPE	Hip Dysplasia	GENOMICS_ENGLAND_DG	26428751		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HIP DYSPLASIA, BEUKES TYPE	Hip Dysplasia	BEFREE	28892125		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HIP DYSPLASIA, BEUKES TYPE	Hip Dysplasia	CLINVAR_DG	28892125		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HIP DYSPLASIA, BEUKES TYPE	Hip Dysplasia	ORPHANET_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HIP DYSPLASIA, BEUKES TYPE	Hip Dysplasia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hip dysplasia, Beukes type	Hip Dysplasia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypersensitivity Delayed	Hypersensitivity	Pubtator	33473208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	33473208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	33473208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	28892125		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE	Spondyloenchondrodysplasia	CLINVAR_DG	21228277, 28892125		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE	Spondyloenchondrodysplasia	UNIPROT_DG	28892125		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

UFSP2 (UFM1 specific peptidase 2)