UFSP2 (UFM1 specific peptidase 2)

Gene

• Entrez ID: 55325
• Gene name: UFM1 specific peptidase 2
• Gene symbol: UFSP2
• Synonyms: BHD, C4orf20, DEE106, SEMDDR
• 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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25219498, 32296183
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0006508	Process	Proteolysis	IMP	25219498
GO:0016790	Function	Thiolester hydrolase activity	IMP	25219498
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IMP	25219498
GO:0071567	Function	UFM1 hydrolase activity	IMP	25219498, 32160526

Other IDs

• MIM: 611482
• HGNC: 25640
• e!Ensembl: ENSG00000109775

Protein

• UniProt ID: 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

• Sequence:

  MVISESMDILFRIRGGLDLAFQLATPNEIFLKKALKHVLSDLSTKLSSNALVFRICHSSV
  YIWPSSDINTIPGELTDASACKNILRFIQFEPEEDIKRKFMRKKDKKLSDMHQIVNIDLM
  LEMSTSLAAVTPIIERESGGHHYVNMTLPVDAVISVAPEETWGKVRKLLVDAIHNQLTDM
  EKCILKYMKGTSIVVPEPLHFLLPGKKNLVTISYPSGIPDGQLQAYRKELHDLFNLPHDR
  PYFKRSNAYHFPDEPYKDGYIRNPHTYLNPPNMETGMIYVVQGIYGYHHYMQDRIDDNGW
  GCAYRSLQTICSWFKHQGYTERSIPTHREIQQALVDAGDKPATFVGSRQWIGSIEVQLVL
  NQLIGITSKILFVSQGSEIASQGRELANHFQSEGTPVMIGGGVLAHTILGVAWNEITGQI
  KFLILDPHYTGAEDLQVILEKGWCGWKGPDFWNKDAYYNLCLPQRPNMI

• Sequence length: 469

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Hip dysplasia	HIP DYSPLASIA, BEUKES TYPE	rs796052130, rs1554022725	26428751, 28892125
Pyle metaphyseal dysplasia	Pyle metaphyseal dysplasia	rs879255603, rs755007671, rs879253778
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spondyloenchondrodysplasia	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880, rs121912881, rs786200938, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723, rs397514724, rs786200943, rs747171013, rs886039542, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs769540174, rs1554022725, rs1555168505, rs1316347883, rs771866012, rs1553151294, rs1416783446, rs1565460853, rs771258750, rs1226321681, rs1294100541, rs1564532120, rs113683179, rs1597675888, rs1597675890, rs1202786652, rs377527583, rs1603225182, rs2085516391, rs934768094, rs2058757423, rs1589509307, rs771336246	21228277, 28892125

Unknown
Disease name	Disease term	dbSNP ID	References
Avascular necrosis of the capital femoral epiphysis	Avascular necrosis of the capital femoral epiphysis
Dwarfism	Dwarfism
Legg-calve-perthes disease	Legg-Calve-Perthes Disease