• Gene id: 126119

Gene Summary

• Gene Symbol: JOSD2   Gene   UCSC   Ensembl
• Aliases: SBBI54
• Gene name: Josephin domain containing 2
• Alternate names: josephin-2, josephin domain-containing protein 2,
• Gene location: 19q13.33 (50511354: 50505996)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternativ

Protein Summary

• Protein general information: Q8TAC2  
  • Name: Josephin 2 (EC 3.4.19.12) (Josephin domain containing protein 2)
  • Length: 188  
  • Mass: 20756
• Sequence:

  MSQAPGAQPSPPTVYHERQRLELCAVHALNNVLQQQLFSQEAADEICKRLAPDSRLNPHRSLLGTGNYDVNVIMA
  ALQGLGLAAVWWDRRRPLSQLALPQVLGLILNLPSPVSLGLLSLPLRRRHWVALRQVDGVYYNLDSKLRAPEALG
  DEDGVRAFLAAALAQGLCEVLLVVTKEVEEKGSWLRTD

• Structural information:
  • Protein Domains: (11..18-)
    (/note="Josephin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00331"-)
  • Interpro: IPR040053  IPR006155  
  • Prosite: PS50957
  • PDB: 6PGV
  • PDBsum: 6PGV
  • STRING: ENSP00000468956
• Other Databases: GeneCards:  JOSD2  Malacards:  JOSD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016579	protein deubiquitination	IBA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
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:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq