JOSD2 - Josephin domain containing 2 Gene

Also Known as SBBI54

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 126119

About JOSD2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,505,998-50,511,191 (from NCBI)

This gene has 6 transcripts (splice variants), 183 orthologues and 1 paralogue. Ubiquitous expression in fat (RPKM 7.4), stomach (RPKM 6.8) and 25 other tissues.

Summary

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 Products (5)

mRNA Protein Name
NM_001270639.2 NP_001257568.1 josephin-2 isoform 1
NM_001270640.2 NP_001257569.1 josephin-2 isoform 1
NM_001270641.2 NP_001257570.1 josephin-2 isoform 2
NM_001270686.2 NP_001257615.1 josephin-2 isoform 1
NM_138334.4 NP_612207.1 josephin-2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables cysteine-type deubiquitinase activity IDA
IDA: Inferred from direct assay
21118805 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence References Source
involved in protein deubiquitination IDA
IDA: Inferred from direct assay
21118805 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JOSD2 Protein Structure

Josephin

Josephin: Josephin (18 - 172)

  • 0
  • 100
  • 188 a.a.
Protein Preferred Names Protein Names

josephin-2

  • josephin domain-containing protein 2

JOSD2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
JOSD2 Q8TAC2 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
32296183
Intra
JOSD2 Q8TAC2 CMTM5 Homo sapiens Q96DZ9-2
Y2H Prey Pooling
32296183
Intra
JOSD2 Q8TAC2 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra
JOSD2 Q8TAC2 TRAPPC2 Homo sapiens P0DI81-3
Y2H Prey Pooling
32296183
Intra
JOSD2 Q8TAC2 TRAPPC2 Homo sapiens P0DI81-3
Y2H Array
32296183
Intra
JOSD2 Q8TAC2 AHCYL1 Homo sapiens O43865
Anti Tag CoIP
33961781
Intra
JOSD2 Q8TAC2 AHCYL1 Homo sapiens O43865
Anti Tag CoIP
28514442
Intra
JOSD2 Q8TAC2 YIF1A Homo sapiens O95070
Y2H Prey Pooling
32296183
Intra
JOSD2 Q8TAC2 YIF1A Homo sapiens O95070
Y2H Array
32296183
Intra
JOSD2 Q8TAC2 FKBP7 Homo sapiens Q9Y680
Validated Y2H
32296183
Intra
JOSD2 Q8TAC2 FKBP7 Homo sapiens Q9Y680
Y2H Array
32296183
Intra
JOSD2 Q8TAC2 FKBP7 Homo sapiens Q9Y680
Y2H Prey Pooling
32296183
Intra
JOSD2 Q8TAC2 MDK Homo sapiens P21741
Y2H Array
32296183
Intra
JOSD2 Q8TAC2 MDK Homo sapiens P21741
Y2H Prey Pooling
32296183
Intra
JOSD2 Q8TAC2 SYP Homo sapiens P08247
Y2H Prey Pooling
32296183
Intra
JOSD2 Q8TAC2 SYP Homo sapiens P08247
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Machado-Joseph Disease

  • SCA3

  • MJD

  • Spinocerebellar Ataxia 3

  • Azorean Disease

  • Spinocerebellar Ataxia Type 3

  • Spinocerebellar Atrophy

  • Azorean Neurologic Disease

  • Spinopontine Atrophy

  • Nigrospinodentatal Degeneration

  • Spinocerebellar Atrophy Iii

  • Spinocerebellar Atrophy Type 3

  • Azorean Ataxia

  • Azorean Disease Of The Nervous System

  • Machado Disease

  • Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

  • Disease, Machado-Joseph

  • Ataxia, Spinocerebellar
Autosomal Dominant Cerebellar Ataxia

  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-179058 JOSD2-IN-1 Inhibitor / Unkown
HY-RS07044 JOSD2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22582 Josd2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29099 Josd2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta JOSD2 VGNC VGNC:73919
Canis familiaris JOSD2 VGNC VGNC:42193
Mus musculus JOSD2 MGD MGI:1913374
Felis catus JOSD2 VGNC VGNC:63010
Rattus norvegicus JOSD2 RGD RGD:1307305
Bos taurus JOSD2 VGNC VGNC:57352
Others JOSD2 NCBI