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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 Deubiquitination and Metabolism of proteins. 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

Regulatory Elements for JOSD2 Gene

Enhancers for JOSD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G050555 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -45.2 -45187 2.0 HDGF ATF1 SIN3A ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 ZNF207 SP3 ASPDH JOSD2 LINC01869 C19orf48 SNORD88C KLK4 C19orf81 SYT3 ACPT LRRC4B
GH19G050496 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +12.0 12008 6.1 HDGF ATF1 PKNOX1 CREB3L1 GLI4 ZNF48 TCF12 GLIS2 GATA2 KLF13 PRR12 CTU1 JOSD2 ASPDH MYH14 MYBPC2 LOC100506114
GH19G050537 1.2 ENCODE dbSUPER 12.2 -26.5 -26524 0.1 SIN3A ZNF2 ZNF48 ZNF143 KLF13 REST ZNF592 ZNF579 MEF2D SMARCA4 ASPDH JOSD2 LRRC4B GPR32 SNORD88A SNORD88B SNORD88C NAPSA NR1H2 C19orf48
GH19G050346 1.2 Ensembl ENCODE 11.3 +163.3 163326 3.9 PKNOX1 ATF1 FOXA2 ARID4B DMAP1 ZNF48 ZNF143 JUNB MIER2 TBX21 NAPSB KCNC3 NAPSA POLD1 JOSD2 ASPDH EMC10 FAM71E1 KLK2 ENSG00000269392
GH19G050538 0.9 dbSUPER 12.2 -26.1 -26084 0.7 HDAC1 PTBP1 RB1 ZSCAN4 SIN3A ZNF2 THRB RAD21 ZEB1 ZNF143 ASPDH JOSD2 LRRC4B GPR32 SNORD88A SNORD88B SNORD88C NAPSA NR1H2 C19orf48
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JOSD2 on UCSC Golden Path with GeneCards custom track

Promoters for JOSD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111078 -45 1601 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZNF2 YY1 CBX5 ZNF207

Genomic Location for JOSD2 Gene

Chromosome:
19
Start:
50,505,997 bp from pter
End:
50,511,355 bp from pter
Size:
5,359 bases
Orientation:
Minus strand

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

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

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

CRISPR Products

Inhibitory RNA Products

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

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, Broad spectrum DUB 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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 34 35
  • 93.05 (n)
cow
(Bos Taurus)
Mammalia LOC100848343 34
  • 91.84 (n)
JOSD2 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JOSD2 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Josd2 34 16 35
  • 86.88 (n)
rat
(Rattus norvegicus)
Mammalia Josd2 34
  • 86.17 (n)
lizard
(Anolis carolinensis)
Reptilia JOSD2 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia josd2 34
  • 64.2 (n)
Str.6100 34
zebrafish
(Danio rerio)
Actinopterygii josd2 34 35
  • 62.94 (n)
zgc55937 34
fruit fly
(Drosophila melanogaster)
Insecta CG3781 34 35
  • 57.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005226 34
  • 52.38 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AR.3 34
  • 46.75 (n)
josd-1 35
  • 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 Sequence Context AA Info Type
rs1000272945 -- 50,508,932(+) AGGCA(-/GG)GGGGA intron-variant
rs1000322633 -- 50,509,938(+) GTCCC(A/G)GCTAC intron-variant
rs1000389631 -- 50,510,211(+) CGCCT(A/G)CCTGG intron-variant
rs1000767299 -- 50,512,896(+) GCAGG(A/G)CTCTG intron-variant, upstream-variant-2KB
rs1000878326 -- 50,507,656(+) GGTGC(C/T)CAGGA intron-variant, reference, missense

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)

Relevant External Links for JOSD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
JOSD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JOSD2 Gene

Disorders for JOSD2 Gene

Relevant External Links for JOSD2

Genetic Association Database (GAD)
JOSD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 H.L. (J. Biol. Chem. 2013) 3 4 64
  2. Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PMID: 21118805) Weeks S.D. … Loll P.J. (J. Biol. Chem. 2011) 3 4 64
  3. Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes. (PMID: 17696782) Tzvetkov N. … Breuer P. (Biol. Chem. 2007) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for JOSD2 Gene

  • Addgene plasmids for JOSD2

Sources for JOSD2 Gene

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