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] See more...

Aliases for JOSD2 Gene

Aliases for JOSD2 Gene

  • Josephin Domain Containing 2 2 3 5
  • Josephin Domain-Containing Protein 2 3 4
  • Josephin-2 3 4
  • SBBI54 2 3
  • EC 3.4.19.12 4
  • JOSD2 5

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. Diseases associated with JOSD2 include Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Deubiquitination 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 Summary 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 , Rfam classification and piRNA Summary for JOSD2 Gene

Genomics for JOSD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH19J050510 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.1 -1.3 -1281 5 BCLAF1 SP1 ZNF207 NCOR1 MYC SIX5 JUND ZNF580 ZNF592 ATF2 ASPDH JOSD2 HSALNG0127111 lnc-ASPDH-1 NR1H2 RRAS PRR12 CTU1 PRMT1 NAPSB
GH19J050548 Promoter/Enhancer 0.6 EPDnew dbSUPER 250.3 -37.7 -37664 0.1 KDM1A JOSD2 GPR32 CLEC11A HSALNG0127113 LRRC4B piR-34822-165 ASPDH
GH19J050555 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.8 -45.4 -45368 1.5 ZNF207 MYC IKZF1 ZNF600 ZNF10 NFIC ZIC2 ZBTB10 CTCF REST ENSG00000268231 ASPDH JOSD2 PTOV1 C19orf48 LINC01869 SNORD88C KLK4 SYT3 ACP4
GH19J050496 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.9 +11.9 11873 6.1 NCOR1 IKZF1 ZMYM3 ZNF10 NFIC ZIC2 ZBTB10 REST BHLHE40 ZNF341 PRR12 ENSG00000268047 NUP62 CTU1 NR1H2 BCL2L12 RRAS POLD1 ADM5 PTOV1
GH19J050552 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -39.7 -39697 2.2 EGR1 ZNF398 ZMYM3 EGR2 KDM1A PATZ1 RAD21 POLR2A ZFHX2 WT1 HSALNG0127113 JOSD2 ASPDH C19orf48 LINC01869 SNORD88C LRRC4B piR-34822-165
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JOSD2

Top Transcription factor binding sites by QIAGEN in the JOSD2 gene promoter:
  • AML1a
  • AP-2gamma
  • ATF
  • Egr-4
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • PPAR-alpha
  • YY1
  • ZIC2

Genomic Locations for JOSD2 Gene

Latest Assembly
chr19:50,505,998-50,511,220
(GRCh38/hg38)
Size:
5,223 bases
Orientation:
Minus strand

Previous Assembly
chr19:51,009,255-51,014,448
(GRCh37/hg19 by Entrez Gene)
Size:
5,194 bases
Orientation:
Minus strand

chr19:51,009,255-51,014,610
(GRCh37/hg19 by Ensembl)
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:
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

    Three dimensional structures from OCA and Proteopedia for JOSD2 Gene

    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:

Suggested Antigen Peptide Sequences for JOSD2 Gene

GenScript: Design optimal peptide antigens:
  • Josephin domain-containing protein 2 (JOS2_HUMAN)
  • JOSD2 protein (Q7Z7N5_HUMAN)
genes like me logo Genes that share domains with JOSD2: view

No data available for Graphical View of Domain Structure and 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:
Reaction=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).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:17696782, ECO:0000269|PubMed:21118805};.

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 IEA,IDA 21118805
GO:0005515 protein binding IPI 28514442
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with JOSD2: view
genes like me logo Genes that share phenotypes with JOSD2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for JOSD2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JOSD2

Clone products for research

  • 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 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 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

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 --
GO:0018215 protein phosphopantetheinylation IEA --
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 for research

Transcripts for JOSD2 Gene

mRNA/cDNA for JOSD2 Gene

5 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JOSD2

Clone products for research

  • 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

Expression for JOSD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 29 30
  • 93.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100848343 29
  • 91.84 (n)
JOSD2 30
  • 87 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia JOSD2 30
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Josd2 29 16 30
  • 86.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Josd2 29
  • 86.17 (n)
Lizard
(Anolis carolinensis)
Reptilia JOSD2 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia josd2 29
  • 64.2 (n)
Str.6100 29
Zebrafish
(Danio rerio)
Actinopterygii josd2 29 30
  • 62.94 (n)
OneToOne
zgc55937 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG3781 29 30
  • 57.65 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005226 29
  • 52.38 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y71H2AR.3 29
  • 46.75 (n)
josd-1 30
  • 38 (a)
OneToMany
Species where no ortholog for JOSD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for JOSD2

Paralogs for JOSD2 Gene

Paralogs for JOSD2 Gene

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

  • JOS2_HUMAN
  • M0QZL8_HUMAN
  • Q7Z7N5_HUMAN
genes like me logo Genes that share paralogs with JOSD2: view

Variants for JOSD2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for JOSD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
JOSD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JOSD2 Gene

Disorders for JOSD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for JOSD2 Gene - From: COP

Disorder Aliases PubMed IDs
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
Search JOSD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for JOSD2

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

No data available for 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
  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
  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
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for JOSD2 Gene

Sources for JOSD2 Gene