• Gene id: 55325

Gene Summary

• Gene Symbol: UFSP2   Gene   UCSC   Ensembl
• Aliases: BHD, C4orf20, SEMDDR
• Gene name: UFM1 specific peptidase 2
• Alternate names: ufm1-specific protease 2,
• Gene location: 4q35.1 (62143393: 62136732)     Exons: 7     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 611482

Protein Summary

• Protein general information: Q9NUQ7  
  • Name: Ufm1 specific protease 2 (UfSP2) (EC 3.4.22. )
  • Length: 469  
  • Mass: 53261
• Sequence:

  MVISESMDILFRIRGGLDLAFQLATPNEIFLKKALKHVLSDLSTKLSSNALVFRICHSSVYIWPSSDINTIPGEL
  TDASACKNILRFIQFEPEEDIKRKFMRKKDKKLSDMHQIVNIDLMLEMSTSLAAVTPIIERESGGHHYVNMTLPV
  DAVISVAPEETWGKVRKLLVDAIHNQLTDMEKCILKYMKGTSIVVPEPLHFLLPGKKNLVTISYPSGIPDGQLQA
  YRKELHDLFNLPHDRPYFKRSNAYHFPDEPYKDGYIRNPHTYLNPPNMETGMIYVVQGIYGYHHYMQDRIDDNGW
  GCAYRSLQTICSWFKHQGYTERSIPTHREIQQALVDAGDKPATFVGSRQWIGSIEVQLVLNQLIGITSKILFVSQ
  GSEIASQGRELANHFQSEGTPVMIGGGVLAHTILGVAWNEITGQIKFLILDPHYTGAEDLQVILEKGWCGWKGPD
  FWNKDAYYNLCLPQRPNMI

• Structural information:
  • Interpro: IPR012462  
  • STRING: ENSP00000264689
• Other Databases: GeneCards:  UFSP2  Malacards:  UFSP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033146	regulation of intracellular estrogen receptor signaling pathway	IMP	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0071567	UFM1 hydrolase activity	IMP	molecular function
GO:0016790	thiolester hydrolase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071567	UFM1 hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016790	thiolester hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Beukes hip dysplasia	KEGG:H01817
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Beukes hip dysplasia	KEGG:H01817
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray