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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JOSD2 Gene

protein-coding   GIFtS: 43
GCID: GC19M051009

Josephin domain containing 2

  Search for JOSD2
in our new
 Human Malady Compendium 
Biological research products
for JOSD2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Josephin Domain Containing 21 2
Josephin Domain-Containing Protein 22 3
SBBI541
Josephin-22
EC 3.4.19.123

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

Export aliases for JOSD2 gene to outside databases

Previous GC identifers: GC19M055702 GC19M047345


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JOSD2:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for JOSD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
51,009,259 bp from pter      End:
51,014,345 bp from pter
Size:
5,087 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: JOS2_HUMAN, Q8TAC2 (See protein sequence)
Recommended Name: Josephin-2  
Size: 188 amino acids; 20756 Da

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TAC2

  • JOSD2 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins (5 alternative transcripts): 
    NP_001257568.1  NP_001257569.1  NP_001257570.1  NP_001257615.1  NP_612207.1  

    ENSEMBL proteins: 
     ENSP00000375691  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    JOSD2 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004843ubiquitin-specific protease activity IDA--
    GO:0008242omega peptidase activity IEA--


    JOSD2 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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


    JOSD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for JOSD2
    Search CenterWatch for drugs/clinical trials and news about JOSD2 / JOS2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for JOSD2 gene (5 alternative transcripts): 
    NM_001270639.1  NM_001270640.1  NM_001270641.1  NM_001270686.1  NM_138334.3  

    Unigene Clusters for JOSD2:

    Josephin domain containing 2
    Hs.467151  [show with all ESTs], Hs.737597  [show with all ESTs]
    Unigene Representative Sequences: NM_001270639, BQ890790
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000391815(uc002psn.1 uc002psp.1 uc002pso.1 uc002psq.1)


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    Inhib. RNA
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    Additional cDNA sequence: AK131052.1 

    4 DOTS entries:

    DT.448065  DT.99954069  DT.97782290  DT.99963681 

    24/85 AceView cDNA sequences (see all 85):

    BQ924400 CN485251 BU624373 BQ268256 BM474974 BQ083148 BM694260 BQ575045 
    BU623847 BQ062311 CA418805 CB157309 BC062416 BM790832 BM792044 BX501721 
    BE906132 BU509078 BV177102 CD636376 BX283124 BQ576058 NM_138334 AK131052 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    JOSD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACCCTGGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    Genevestigator expression for JOSD2

    SOURCE GeneReport for Unigene clusters: Hs.467151 Hs.737597
        SABiosciences Custom PCR Arrays for JOSD2
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for JOSD2

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for JOSD2 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Josd21 , 5 Josephin domain containing 21, 5 87.17(n)1
    95.19(a)1
      7 (28.83 cM)5
    661241  NM_001205070.11  NP_001191999.11 
     444679805 
    lizard
    (Anolis carolinensis)
    Reptilia JOSD26
    --
    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 Protein Y71H2AR.3 46.75(n)
    42.07(a)
      259492  NM_181956.3  NP_871685.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons JOSL6
    Josephin-like protein
    20(a)
    1 → many
    2(12671206-12673300)
    rice
    (Oryza sativa)
    Liliopsida --
    josephin, putative, expressed
    32(a)
    1 → many
    3(8740809-8743068)


    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)
    About This Section
    Paralogs for JOSD2 gene
    JOSD12  
    2 SIMAP similar genes for JOSD2 using alignment to 4 protein entries:     JOS2_HUMAN (see all proteins):
    KIAA0063    JOSD1

    JOSD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/158 NCBI SNPs in JOSD2 are shown (see all 158    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
    F,--51008975(+) CCCCCG/ATGGAA 5 -- ds50011Minor allele frequency- A:0.03NA 120
    rs784750621,2
    F,--51009028(+) AGCACC/TGGAGG 5 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1860507221,2
    --51009124(+) CATGAA/GGTGGC 5 -- ds50010--------
    rs758756591,2
    --51009162(+) CGGCCC/TCACAC 5 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1900730351,2
    --51009174(+) CCAGGA/GTGTCT 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for JOSD2 (51009259 - 51014345 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for JOSD2
         3 Indels: 89290 78240 78241

    SABiosciences Cancer Mutation PCR Assays
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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.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for JOSD2 gene, integrated from 9 sources (see all 13):
    (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. (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. (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. (2004)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Activity-based chemical proteomics accelerates inhibi tor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    8. Cytokine-regulated protein degradation by the ubiquit ination system. (PubMed id 16611142)1 Baek K.H. (2006)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    10. Structural modeling of ataxin-3 reveals distant homology to adaptins. (PubMed id 12486728)2 Albrecht M....Lengauer T. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 126119 HGNC: 28853 AceView: SBBI54 Ensembl:ENSG00000161677 euGenes: HUgn126119
    ECgene: JOSD2 H-InvDB: JOSD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for JOSD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for JOSD2 gene:
    Search GeneIP for patents involving JOSD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    In Situ Hybridization Assays from
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