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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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
JOSD2 (Josephin Domain Containing 2) is a Protein Coding gene. Diseases associated with JOSD2 include Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Deubiquitination and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include thiol-dependent ubiquitin-specific protease activity and omega peptidase activity. An important paralog of this gene is JOSD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004843 | thiol-dependent ubiquitin-specific protease activity | IEA,IDA | 21118805 |
GO:0005515 | protein binding | IPI | 28514442 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Deubiquitination |
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3 | Josephin domain DUBs |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0016579 | protein deubiquitination | IEA,TAS | -- |
GO:0018215 | protein phosphopantetheinylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
PR-619 | Pharma | Deubiquitylating enzymes (DBUs) inhibitor | 0 |
Compound | Action | Cas Number |
---|---|---|
PR-619 | Deubiquitylating enzymes (DBUs) inhibitor | 2645-32-1 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | JOSD2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC100848343 30 |
|
||
JOSD2 31 |
|
OneToOne | |||
Chimpanzee (Pan troglodytes) |
Mammalia | JOSD2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Josd2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Josd2 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | JOSD2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | josd2 30 |
|
||
Str.6100 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | josd2 30 31 |
|
OneToOne | |
zgc55937 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3781 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005226 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y71H2AR.3 30 |
|
||
josd-1 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1133010 | OTHER | inversion | 24896259 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv1152956 | OTHER | inversion | 26484159 |
nsv509750 | CNV | insertion | 20534489 |
nsv953604 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal dominant cerebellar ataxia |
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