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    Josd2 Josephin domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 66124, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Josd2provided by MGI
    Official Full Name
    Josephin domain containing 2provided by MGI
    Primary source
    MGI:MGI:1913374
    See related
    Ensembl:ENSMUSG00000038695 AllianceGenome:MGI:1913374
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1110007C05Rik
    Summary
    Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination. Predicted to be located in cytosol. Is expressed in heart and node. Orthologous to human JOSD2 (Josephin domain containing 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver E14.5 (RPKM 55.3), liver E14 (RPKM 49.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Josd2 in Genome Data Viewer
    Location:
    7 B3; 7 28.83 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (44117404..44121082)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (44467980..44471658)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 4B Neighboring gene predicted gene, 39003 Neighboring gene STARR-positive B cell enhancer ABC_E9110 Neighboring gene aspartate dehydrogenase domain containing Neighboring gene microRNA 7052 Neighboring gene RIKEN cDNA 5430431A17 gene Neighboring gene STARR-seq mESC enhancer starr_18800 Neighboring gene ER membrane protein complex subunit 10 Neighboring gene golgi associated RAB2 interactor 5A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Deubiquitinase JOSD2 improves calcium handling and attenuates cardiac hypertrophy and dysfunction by stabilizing SERCA2a in cardiomyocytes. Han J, et al. Nat Cardiovasc Res, 2023 Aug. PMID 39195964
    2. Structural modeling of ataxin-3 reveals distant homology to adaptins. Albrecht M, et al. Proteins, 2003 Feb 1. PMID 12486728
    3. Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome. Maynard TM, et al. Hum Mol Genet, 2020 Apr 15. PMID 32047912, Free PMC Article
    4. Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives. Tamplin OJ, et al. BMC Genomics, 2008 Oct 30. PMID 18973680, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deubiquitinase JOSD2 improves calcium handling and attenuates cardiac hypertrophy and dysfunction by stabilizing SERCA2a in cardiomyocytes.
      Title: Deubiquitinase JOSD2 improves calcium handling and attenuates cardiac hypertrophy and dysfunction by stabilizing SERCA2a in cardiomyocytes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cysteine-type deubiquitinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein deubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein deubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    josephin-2
    Names
    josephin domain-containing protein 2
    NP_001191999.1
    NP_001192000.1
    NP_001192001.1
    NP_001192002.1
    NP_001347533.1
    NP_079644.1
    XP_006541134.1
    XP_006541135.1
    XP_030098747.1
    XP_036009235.1
    XP_036009236.1
    XP_036009237.1
    XP_036009238.1
    XP_036009239.1
    XP_036009240.1
    XP_036009241.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001205070.1 → NP_001191999.1  josephin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, 3, 4 and 5 all encode the same isoform (a).
      Source sequence(s)
      AC149607
      Consensus CDS
      CCDS21208.1
      UniProtKB/Swiss-Prot
      Q9CR30
      Related
      ENSMUSP00000113226.2, ENSMUST00000118493.8
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    2. NM_001205071.1 → NP_001192000.1  josephin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4 and 5 all encode the same isoform (a).
      Source sequence(s)
      AC149607
      Consensus CDS
      CCDS21208.1
      UniProtKB/Swiss-Prot
      Q9CR30
      Related
      ENSMUSP00000113172.2, ENSMUST00000118628.8
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    3. NM_001205072.1 → NP_001192001.1  josephin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4 and 5 all encode the same isoform (a).
      Source sequence(s)
      AC149607, AK002872
      Consensus CDS
      CCDS21208.1
      UniProtKB/Swiss-Prot
      Q9CR30
      Related
      ENSMUSP00000113313.2, ENSMUST00000117324.8
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    4. NM_001205073.1 → NP_001192002.1  josephin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4 and 5 all encode the same isoform (a).
      Source sequence(s)
      AC149607, CA326008
      Consensus CDS
      CCDS21208.1
      UniProtKB/Swiss-Prot
      Q9CR30
      Related
      ENSMUSP00000114105.2, ENSMUST00000120852.8
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    5. NM_001360604.1 → NP_001347533.1  josephin-2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC149607, BY230733
      Consensus CDS
      CCDS90222.1
      UniProtKB/TrEMBL
      D3YTZ7
      Related
      ENSMUSP00000112796.2, ENSMUST00000121922.3
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 124
      Josephin

    6. NM_025368.4 → NP_079644.1  josephin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4 and 5 all encode the same isoform (a).
      Source sequence(s)
      AC149607, AK003525, AV011743
      Consensus CDS
      CCDS21208.1
      UniProtKB/Swiss-Prot
      Q9CR30
      Related
      ENSMUSP00000048415.5, ENSMUST00000035844.11
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    RNA

    1. NR_153758.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC149607, CX201137

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      44117404..44121082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153343.1 → XP_036009236.1  josephin-2 isoform X3

      UniProtKB/Swiss-Prot
      Q9CR30
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    2. XM_030242887.1 → XP_030098747.1  josephin-2 isoform X3

      UniProtKB/Swiss-Prot
      Q9CR30
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    3. XM_006541072.3 → XP_006541135.1  josephin-2 isoform X2

      Conserved Domains (1) summary
      pfam02099
      Location:57 → 204
      Josephin

    4. XM_036153344.1 → XP_036009237.1  josephin-2 isoform X3

      UniProtKB/Swiss-Prot
      Q9CR30
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    5. XM_036153348.1 → XP_036009241.1  josephin-2 isoform X5

      UniProtKB/TrEMBL
      D3YTZ7
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 124
      Josephin

    6. XM_006541071.3 → XP_006541134.1  josephin-2 isoform X1

      Conserved Domains (1) summary
      pfam02099
      Location:58 → 205
      Josephin

    7. XM_036153346.1 → XP_036009239.1  josephin-2 isoform X4

      Conserved Domains (1) summary
      pfam02099
      Location:58 → 163
      Josephin

    8. XM_036153345.1 → XP_036009238.1  josephin-2 isoform X3

      UniProtKB/Swiss-Prot
      Q9CR30
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin

    9. XM_036153347.1 → XP_036009240.1  josephin-2 isoform X5

      UniProtKB/TrEMBL
      D3YTZ7
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 124
      Josephin

    10. XM_036153342.1 → XP_036009235.1  josephin-2 isoform X3

      UniProtKB/Swiss-Prot
      Q9CR30
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 166
      Josephin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CR30.1 GenPept UniProtKB/Swiss-Prot:Q9CR30

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