Aliases for JOSD2 Gene
Aliases for JOSD2 Gene
External Ids for JOSD2 Gene
- HGNC: 28853
- Entrez Gene: 126119
- Ensembl: ENSG00000161677
- OMIM: 615324
- UniProtKB: Q8TAC2
Previous GeneCards Identifiers for JOSD2 Gene
- GC19M055702
- GC19M051009
- GC19M047345
Summaries for JOSD2 Gene
-
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]
GeneCards Summary for JOSD2 Gene
JOSD2 (Josephin Domain Containing 2) is a Protein Coding gene. Among its related pathways are Josephin domain DUBs 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.
UniProtKB/Swiss-Prot for JOSD2 Gene
-
Cleaves Lys-63-linked poly-ubiquitin chains, and with lesser efficiency Lys-48-linked poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JOSD2 Gene
Genomics for JOSD2 Gene
GeneHancer (GH) Regulatory Elements for JOSD2 Gene
Promoters and enhancers for JOSD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around JOSD2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the JOSD2 gene promoter:
-
- Egr-4
- PPAR-alpha
- Pax-5
- ZIC2
- NRSF form 2
- ATF
- YY1
- NRSF form 1
- AP-2gamma
- AML1a
Regulatory Element Products
Genomic Locations for JOSD2 Gene
Genomic Locations for JOSD2 Gene
- chr19:50,505,997-50,511,355
- (GRCh38/hg38)
- Size:
- 5,359 bases
- Orientation:
- Minus strand
- chr19:51,009,255-51,014,610
- (GRCh37/hg19)
- Size:
- 5,356 bases
- Orientation:
- Minus strand
Genomic View for JOSD2 Gene
Genes around JOSD2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by Entrez Gene
- 19q13.33 by HGNC
- 19q13.33 by Ensembl
JOSD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for JOSD2 Gene
Proteins for JOSD2 Gene
-
Protein details for JOSD2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TAC2-JOS2_HUMAN
- Recommended name:
- Josephin-2
- Protein Accession:
- Q8TAC2
- M0QX25
Protein attributes for JOSD2 Gene
- Size:
- 188 amino acids
- Molecular mass:
- 20756 Da
- Quaternary structure:
- No Data Available
Protein Expression for JOSD2 Gene
Post-translational modifications for JOSD2 Gene
Other Protein References for JOSD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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Protein Products
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- antibodies-online: Search results for 3 available JOSD2 Proteins ranked by validation data
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-
Quality Products:
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Assay Products
No data available for DME Specific Peptides for JOSD2 Gene
Domains & Families for JOSD2 Gene
Gene Families for JOSD2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for JOSD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for JOSD2 Gene
Function for JOSD2 Gene
Molecular function for JOSD2 Gene
- UniProtKB/Swiss-Prot Function:
- Cleaves Lys-63-linked poly-ubiquitin chains, and with lesser efficiency Lys-48-linked poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
Enzyme Numbers (IUBMB) for JOSD2 Gene
Phenotypes From GWAS Catalog for JOSD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004843 | thiol-dependent ubiquitin-specific protease activity | IDA | 21118805 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0036459 | thiol-dependent ubiquitinyl hydrolase activity | TAS | -- |
Phenotypes for JOSD2 Gene
- GenomeRNAi human phenotypes for JOSD2:
-
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella enterica Typhimurium binding
- Decreased Salmonella-containing vacuole maturation
- Decreased Salmonella enterica Typhimurium ruffling
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
Animal Model Products
-
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-
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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Cell Line Products
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Horizon Cell Lines for JOSD2
No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for JOSD2 Gene
Localization for JOSD2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for JOSD2 Gene
- Cytoplasm, cytosol.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for JOSD2 Gene
Pathways & Interactions for JOSD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Deubiquitination |
.74
|
|
| 3 | Josephin domain DUBs | ||
Pathways by source for JOSD2 Gene
4 Reactome pathways for JOSD2 Gene
Interacting Proteins for JOSD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0016579 | protein deubiquitination | IEA,TAS | -- |
No data available for SIGNOR curated interactions for JOSD2 Gene
Drugs & Compounds for JOSD2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| PR-619 | Pharma | Deubiquitylating enzymes (DBUs) inhibitor | 0 |
Drug Products
Transcripts for JOSD2 Gene
mRNA/cDNA for JOSD2 Gene
- (6) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (85) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000601423 802 bps (uc002pso.3)
- ENST00000598418 996 bps (uc002psp.3)
- ENST00000595669 733 bps (uc002psq.3)
- ENST00000594350 582 bps (uc061bri.1)
- ENST00000602146 583 bps (uc061brj.1)
Unigene Clusters for JOSD2 Gene
- Josephin domain containing 2:
- Representative Sequences:
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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Inhibitory RNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for JOSD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for JOSD2
- genomics-online: cdna clones - Search results for 135 available JOSD2 gene related products
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Recommended
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Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||
| SP6: |
Expression for JOSD2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Bone (Muscoskeletal System)
This gene is overexpressed in Spinal cord (14.9), Frontal cortex (13.4), and Bone marrow stromal cell (9.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for JOSD2 Gene
NURSA nuclear receptor signaling pathways regulating expression of JOSD2 Gene:
JOSD2SOURCE GeneReport for Unigene cluster for JOSD2 Gene:
Hs.467151Primer Products
-
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No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for JOSD2 Gene
Orthologs for JOSD2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | JOSD2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LOC100848343 33 |
|
||
| JOSD2 34 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | JOSD2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Josd2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Josd2 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | JOSD2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | josd2 33 |
|
||
| Str.6100 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | josd2 34 33 |
|
OneToOne | |
| zgc55937 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG3781 34 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005226 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y71H2AR.3 33 |
|
||
| josd-1 34 |
|
OneToMany |
- Species where no ortholog for JOSD2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for JOSD2 Gene
- ENSEMBL:
- Gene Tree for JOSD2 (if available)
- TreeFam:
- Gene Tree for JOSD2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for JOSD2: view image
Paralogs for JOSD2 Gene
Variants for JOSD2 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000272945 | -- | 50,508,933(-) | GGGG/GGGGGG | intron_variant | |
| rs1000322633 | -- | 50,509,938(-) | A/G | intron_variant | |
| rs1000389631 | -- | 50,510,211(-) | G/A | intron_variant | |
| rs1000767299 | -- | 50,512,896(-) | G/A | upstream_transcript_variant | |
| rs1000878326 | -- | 50,507,656(-) | C/T | coding_sequence_variant, intron_variant, missense_variant |
| 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 |
Residual Variation Intolerance Score:
54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.67;
14.20% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for JOSD2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- JOSD2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JOSD2 Gene
Disorders for JOSD2 Gene
Additional Disease Information for JOSD2
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for JOSD2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JOSD2 Gene
Publications for JOSD2 Gene
- JosD1, a membrane-targeted deubiquitinating enzyme, is activated by ubiquitination and regulates membrane dynamics, cell motility, and endocytosis. (PMID: 23625928) Seki T … Paulson HL (The Journal of biological chemistry 2013) 3 4 58
- Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PMID: 21118805) Weeks SD … Loll PJ (The Journal of biological chemistry 2011) 3 4 58
- Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes. (PMID: 17696782) Tzvetkov N … Breuer P (Biological chemistry 2007) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for JOSD2
- antibodies-online: Search results for 26 available JOSD2 Antibodies ranked by validation data
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Sources for JOSD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
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