Free for academic non-profit institutions. Other users need a Commercial license

Aliases for JOSD2 Gene

Aliases for JOSD2 Gene

  • Josephin Domain Containing 2 2 3 5
  • Josephin Domain-Containing Protein 2 3 4
  • EC 3.4.19.12 4
  • Josephin-2 3
  • SBBI54 3

External Ids for JOSD2 Gene

Previous GeneCards Identifiers for JOSD2 Gene

  • GC19M055702
  • GC19M051009
  • GC19M047345

Summaries for JOSD2 Gene

Entrez Gene Summary 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 Metabolism of proteins and Josephin domain DUBs. 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.

Additional gene information for JOSD2 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I050510 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 557.2 +0.1 62 2.5 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A ZNF2 YY1 POLR2B CBX5 JOSD2 NAPSB ASPDH ETFB LOC100506114
GH19I050514 Enhancer 0.6 ENCODE dbSUPER 550.8 -2.0 -1984 0.2 PATZ1 ZFP36 ZNF398 ASPDH JOSD2
GH19I050555 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -45.2 -45187 2 HDGF ATF1 SIN3A ZNF2 ZNF48 ZNF121 GLIS2 ZNF207 ZNF143 ATF7 ENSG00000268231 ASPDH JOSD2 PTOV1 LINC01869 C19orf48 SNORD88C KLK4 C19orf81 SYT3
GH19I050496 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +12.0 12008 6.1 GLI4 ZNF48 TCF12 GLIS2 GATA2 ZNF143 ZNF202 NCOA1 REST MEF2D PRR12 ENSG00000268047 NUP62 CTU1 POLD1 ADM5 PTOV1 PRMT1 AKT1S1 PTOV1-AS2
GH19I050537 Enhancer 1.1 ENCODE dbSUPER 12.2 -26.5 -26524 0.1 SIN3A ZNF2 IRF4 ZNF48 ARID2 ZNF143 ATF7 REST ZNF592 MEF2D ASPDH JOSD2 LRRC4B GPR32 SNORD88A SNORD88B SNORD88C NAPSA NR1H2 C19orf48
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around JOSD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the JOSD2 gene promoter:

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)

Genomic View for JOSD2 Gene

Genes around JOSD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JOSD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JOSD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • M0QX25

    Protein attributes for JOSD2 Gene

    Size:
    188 amino acids
    Molecular mass:
    20756 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for JOSD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JOSD2 Gene

Post-translational modifications for JOSD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for JOSD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JOSD2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with JOSD2: view

No data available for UniProtKB/Swiss-Prot for JOSD2 Gene

Function for JOSD2 Gene

Molecular function for JOSD2 Gene

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).
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.

Enzyme Numbers (IUBMB) for JOSD2 Gene

Phenotypes From GWAS Catalog for JOSD2 Gene

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with JOSD2: view
genes like me logo Genes that share phenotypes with JOSD2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for JOSD2

Clone Products

  • Addgene plasmids 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JOSD2 gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for JOSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with JOSD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for JOSD2 Gene

Pathways & Interactions for JOSD2 Gene

genes like me logo Genes that share pathways with JOSD2: view

Pathways by source for JOSD2 Gene

Interacting Proteins for JOSD2 Gene

Gene Ontology (GO) - Biological Process for JOSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016579 protein deubiquitination IEA,TAS --
genes like me logo Genes that share ontologies with JOSD2: view

No data available for SIGNOR curated interactions for JOSD2 Gene

Drugs & Compounds for JOSD2 Gene

(1) Drugs for JOSD2 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PR-619 Pharma Deubiquitylating enzymes (DBUs) inhibitor 0

(1) ApexBio Compounds for JOSD2 Gene

Compound Action Cas Number
PR-619 Deubiquitylating enzymes (DBUs) inhibitor 2645-32-1
genes like me logo Genes that share compounds with JOSD2: view

Drug Products

Transcripts for JOSD2 Gene

Unigene Clusters for JOSD2 Gene

Josephin domain containing 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for JOSD2

Alternative Splicing Database (ASD) splice patterns (SP) for JOSD2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for JOSD2 Gene

GeneLoc Exon Structure for
JOSD2
ECgene alternative splicing isoforms for
JOSD2

Expression for JOSD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JOSD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JOSD2 Gene

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:

JOSD2

SOURCE GeneReport for Unigene cluster for JOSD2 Gene:

Hs.467151
genes like me logo Genes that share expression patterns with JOSD2: view

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.

Orthologs for JOSD2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia JOSD2 33 34
  • 93.05 (n)
cow
(Bos Taurus)
Mammalia LOC100848343 33
  • 91.84 (n)
JOSD2 34
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JOSD2 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Josd2 33 16 34
  • 86.88 (n)
rat
(Rattus norvegicus)
Mammalia Josd2 33
  • 86.17 (n)
lizard
(Anolis carolinensis)
Reptilia JOSD2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia josd2 33
  • 64.2 (n)
Str.6100 33
zebrafish
(Danio rerio)
Actinopterygii josd2 33 34
  • 62.94 (n)
zgc55937 33
fruit fly
(Drosophila melanogaster)
Insecta CG3781 33 34
  • 57.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005226 33
  • 52.38 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AR.3 33
  • 46.75 (n)
josd-1 34
  • 38 (a)
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)

Paralogs for JOSD2 Gene

Paralogs for JOSD2 Gene

(2) SIMAP similar genes for JOSD2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with JOSD2: view

Variants for JOSD2 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for JOSD2 Gene

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

Variation tolerance for JOSD2 Gene

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

No disorders were found for JOSD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JOSD2 Gene

Publications for JOSD2 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for JOSD2 Gene

  • Addgene plasmids for JOSD2

Sources for JOSD2 Gene

Content
Loading form....