• Gene id: 51029

Gene Summary

• Gene Symbol: DESI2   Gene   UCSC   Ensembl
• Aliases: C1orf121, CGI-146, DESI, DESI1, DeSI-2, FAM152A, PNAS-4, PPPDE1
• Gene name: desumoylating isopeptidase 2
• Alternate names: deubiquitinase DESI2, PPPDE peptidase domain-containing protein 1, desumoylating isopeptidase 1, family with sequence similarity 152, member A,
• Gene location: 1q44 (125189938: 125146572)     Exons: 10     NC_000009.12
• OMIM: 614638

Protein Summary

• Protein general information: Q9BSY9  
  • Name: Deubiquitinase DESI2 (EC 3.4.19.12) (Desumoylating isopeptidase 2) (DeSI 2) (PPPDE peptidase domain containing protein 1) (Protein FAM152A)
  • Length: 194  
  • Mass: 21444
• Sequence:

  MGANQLVVLNVYDMYWMNEYTSSIGIGVFHSGIEVYGREFAYGGHPYPFSGIFEISPGNASELGETFKFKEAVVL
  GSTDFLEDDIEKIVEELGKEYKGNAYHLMHKNCNHFSSALSEILCGKEIPRWINRLAYFSSCIPFLQSCLPKEWL
  TPAALQSSVSQELQDELEEAEDAAASASVASTAAGSRPGRHTKL

• Structural information:
  • Protein Domains: (5..14-)
    (/note="PPPDE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01205"-)
  • Interpro: IPR008580  IPR042266  
  • Prosite: PS51858
  • STRING: ENSP00000306528
• Other Databases: GeneCards:  DESI2  Malacards:  DESI2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0101005	ubiquitinyl hydrolase activity	IBA	molecular function
GO:0070646	protein modification by small protein removal	IBA	biological process
GO:0016579	protein deubiquitination	IBA	biological process
GO:1990380	Lys48-specific deubiquitinase activity	IMP	molecular function
GO:0061578	Lys63-specific deubiquitinase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0071108	protein K48-linked deubiquitination	IEA	biological process
GO:0070536	protein K63-linked deubiquitination	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray