JOSD2 - Josephin domain containing 2 Gene

Homo sapiens

Also known as SBBI54

Gene ID: 126119 | Gene type: protein coding

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	Reference	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	Reference	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

0
100
188 a.a.

Protein Preferred Names

Protein Names

josephin-2

josephin domain-containing protein 2

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07044	JOSD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.