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JOSD2 Gene

protein-coding   GIFtS: 48
GCID: GC19M051009

Josephin Domain Containing 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Josephin Domain Containing 21 2
Josephin Domain-Containing Protein 22 3
Josephin-22
EC 3.4.19.123

External Ids:    HGNC: 288531   Entrez Gene: 1261192   Ensembl: ENSG000001616777   OMIM: 6153245   UniProtKB: Q8TAC23   

Export aliases for JOSD2 gene to outside databases

Previous GC identifers: GC19M055702 GC19M047345


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include ubiquitin-specific protease activity and omega peptidase activity. An important paralog of this gene is JOSD1.

UniProtKB/Swiss-Prot: JOS2_HUMAN, Q8TAC2
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the JOSD2 gene promoter:
         AML1a   Pax-5   NRSF form 1   AP-2gamma   NRSF form 2   YY1   Egr-4   PPAR-alpha   ZIC2/Zic2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJOSD2 promoter sequence
   Search Chromatin IP Primers for JOSD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JOSD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

JOSD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JOSD2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M051009:  view genomic region     (about GC identifiers)

Start:
51,009,255 bp from pter      End:
51,014,610 bp from pter
Size:
5,356 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: JOS2_HUMAN, Q8TAC2 (See protein sequence)
Recommended Name: Josephin-2  
Size: 188 amino acids; 20756 Da
Secondary accessions: M0QX25
Alternative splicing: 2 isoforms:  Q8TAC2-1   Q8TAC2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JOSD2: NX_Q8TAC2

Explore proteomics data for JOSD2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See JOSD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001257568.1  NP_001257569.1  NP_001257570.1  NP_001257615.1  NP_612207.1  

    ENSEMBL proteins: 
     ENSP00000472116   ENSP00000468956   ENSP00000468860   ENSP00000470628   ENSP00000375691  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006155 Josephin

    Graphical View of Domain Structure for InterPro Entry Q8TAC2

    ProtoNet protein and cluster: Q8TAC2

    UniProtKB/Swiss-Prot: JOS2_HUMAN, Q8TAC2
    Similarity: Contains 1 Josephin domain


    Find genes that share domains with JOSD2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: JOS2_HUMAN, Q8TAC2
    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
    Catalytic activity: 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 Number (IUBMB): EC 3.4.19.121

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004843ubiquitin-specific protease activity IDA--
    GO:0008242omega peptidase activity IEA--
         
    Find genes that share ontologies with JOSD2           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for JOSD2:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella-containin 

    Animal Models:
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    1 qRT-PCR Assays for microRNA that regulate JOSD2:
    hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidJOSD2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    JOS2_HUMAN, Q8TAC2: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus2
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--

    Find genes that share ontologies with JOSD2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for JOSD2
    Interactions:

        Search GeneGlobe Interaction Network for JOSD2

    5 Interacting proteins for JOSD2 (Q8TAC23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AHCYL1O438653I2D: score=1 
    AHCYL2Q96HN23I2D: score=1 
    SMARCA2P515313I2D: score=1 
    TRAPPC2P1P0DI823I2D: score=1 
    TYSND1Q2T9J03I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0016579protein deubiquitination IDA--

    Find genes that share ontologies with JOSD2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for JOSD2 (JOS2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for JOSD2 gene (5 alternative transcripts): 
    NM_001270639.1  NM_001270640.1  NM_001270641.1  NM_001270686.1  NM_138334.3  

    Unigene Cluster for JOSD2:

    Josephin domain containing 2
    Hs.467151  [show with all ESTs]
    Unigene Representative Sequence: NM_001270639
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000601423 ENST00000598418 ENST00000595669 ENST00000594350 ENST00000602146
    ENST00000595718 ENST00000391815(uc002psn.1 uc002psp.1 uc002pso.1 uc002psq.1)

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate JOSD2:
    hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidJOSD2 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat JOSD2
      QuantiTect SYBR Green Assays in human, mouse, rat JOSD2
      QuantiFast Probe-based Assays in human, mouse, rat JOSD2

    Additional mRNA sequence: 

    AF247787.1 BC051380.1 BC062416.1 

    2 DOTS entries:

    DT.448065  DT.99954069 

    Selected AceView cDNA sequences (see all 85):

    BQ083148 BQ062311 CA418805 BU624373 BU623847 BQ575045 BM790832 CN485251 
    BQ268256 CB157309 BM694260 BM474974 BQ924400 BC062416 BM792044 BQ057610 
    BM970016 AW444593 BE261354 CB851833 BG774911 BX283124 BM980474 BQ576058 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for JOSD2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for JOSD2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    JOSD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCCTGGGG
    JOSD2 Expression
    About this image


    JOSD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Bone (Muscoskeletal System)
    JOSD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JOSD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.467151
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for JOSD2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Josd21 , 5 Josephin domain containing 21, 5 86.88(n)1
    94.68(a)1
      7 (28.83 cM)5
    661241  NM_025368.41  NP_079644.11 
     444679805 
    lizard
    (Anolis carolinensis)
    Reptilia JOSD26
    Josephin domain containing 2
    65(a)
    1 ↔ 1
    6(78845194-78853309)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480112352   -- 78.26(n)    48011235 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc559372 hypothetical protein MGC55937 75.78(n)   393120  BC044546.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37811 CG3781 57.65(n)
    51.76(a)
      31560  NM_132075.4  NP_572303.4 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H2AR.31 Y71H2AR.3 46.75(n)
    42.07(a)
      259492  NM_181956.4  NP_871685.1 


    ENSEMBL Gene Tree for JOSD2 (if available)
    TreeFam Gene Tree for JOSD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for JOSD2 gene
    JOSD12  
    2 SIMAP similar genes for JOSD2 using alignment to 3 protein entries:     JOS2_HUMAN (see all proteins):
    KIAA0063    JOSD1

    Find genes that share paralogs with JOSD2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for JOSD2 (see all 169)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1159437051,2
    F--51008787(+) GTGGCA/TTGCAC 5 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1512631711,2
    --51008864(+) AGTGAA/GCTGTG 5 -- ds50010--------
    rs48027121,2
    C--51008877(+) TGACCC/TACTGC 5 -- ds50015Minor allele frequency- T:0.24WA NA CSA 243
    rs1404918971,2
    --51008939(+) TAAAGA/GAGTAA 5 -- ds50010--------
    rs1814642621,2
    --51008974(+) ACCCCC/TGTGGA 5 -- ds50010--------
    rs1180394531,2
    C,F--51008975(+) CCCCCG/ATGGAA 5 -- ds50011Minor allele frequency- A:0.03NA 120
    rs784750621,2
    C,F--51009028(+) AGCACC/TGGAGG 5 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1860507221,2
    --51009124(+) CATGAA/GGTGGC 5 -- ds50010--------
    rs758756591,2
    F--51009162(+) CGGCCC/TCACAC 5 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1900730351,2
    --51009174(+) CCAGGA/GTGTCT 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for JOSD2 (51009255 - 51014610 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for JOSD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509750CNV Insertion20534489
    nsv912284CNV Loss21882294
    nsv912282CNV Loss21882294
    nsv912283CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615324    OMIM disorders: --


    Find genes that share disorders with JOSD2           About GenesLikeMe

    Genetic Association Database (GAD): JOSD2

    Export disorders for JOSD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for JOSD2 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with JOSD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PubMed id 21118805)1, 2 Weeks S.D.... Loll P.J. (J. Biol. Chem. 2011)
    2. Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes. (PubMed id 17696782)1, 2 Tzvetkov N. and Breuer P. (Biol. Chem. 2007)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. JosD1, a membrane-targeted deubiquitinating enzyme, is activated by ubiquitination and regulates membrane dynamics, cell motility, and endocytosis. (PubMed id 23625928)2 Seki T.... Paulson H.L. (J. Biol. Chem. 2013)
    5. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    9. Cytokine-regulated protein degradation by the ubiquitination system. (PubMed id 16611142)1 Baek K.H. (amp 2006)
    10. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 126119 HGNC: 28853 AceView: SBBI54 Ensembl:ENSG00000161677 euGenes: HUgn126119
    ECgene: JOSD2 H-InvDB: JOSD2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for JOSD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for JOSD2 gene:
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