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    JOSD2 Josephin domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 126119, updated on 10-Dec-2024

    Summary

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    Official Symbol
    JOSD2provided by HGNC
    Official Full Name
    Josephin domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28853
    See related
    Ensembl:ENSG00000161677 MIM:615324; AllianceGenome:HGNC:28853
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SBBI54
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 7.4), stomach (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JOSD2 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50505998..50511191, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53594861..53600045, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51009255..51014448, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50970469-50970655 Neighboring gene golgi associated RAB2 interactor 5A Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50979402-50979902 Neighboring gene ER membrane protein complex subunit 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14991 Neighboring gene MYBPC2 cis regulating lncRNA enhancer of myogenesis Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51004588-51005251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013121-51013628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013629-51014135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14992 Neighboring gene uncharacterized LOC124904747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51015053-51015642 Neighboring gene aspartate dehydrogenase domain containing Neighboring gene leucine rich repeat containing 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51055019-51055930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10972 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10973

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Deubiquitinating enzyme JOSD2 affects susceptibility of non-small cell lung carcinoma cells to anti-cancer drugs through DNA damage repair. Ge F, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban, 2023 Oct 3. PMID 37899394, Free PMC Article
    2. Deubiquitinating enzyme Josephin-2 stabilizes PHGDH to promote a cancer stem cell phenotype in hepatocellular carcinoma. Wang Y, et al. Genes Genomics, 2023 Feb. PMID 36583817
    3. Josephin domain containing 2 (JOSD2) promotes lung cancer by inhibiting LKB1 (Liver kinase B1) activity. Yuan T, et al. Signal Transduct Target Ther, 2024 Jan 5. PMID 38177135, Free PMC Article
    4. Deubiquitinating enzyme JOSD2 promotes hepatocellular carcinoma progression through interacting with and inhibiting CTNNB1 degradation. Huang Y, et al. Cell Biol Int, 2022 Jul. PMID 35568970
    5. Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes. Tzvetkov N, et al. Biol Chem, 2007 Sep. PMID 17696782

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Josephin domain containing 2 (JOSD2) promotes lung cancer by inhibiting LKB1 (Liver kinase B1) activity.
      Title: Josephin domain containing 2 (JOSD2) promotes lung cancer by inhibiting LKB1 (Liver kinase B1) activity.
    2. Deubiquitinating enzyme JOSD2 affects susceptibility of non-small cell lung carcinoma cells to anti-cancer drugs through DNA damage repair.
      Title: Deubiquitinating enzyme JOSD2 affects susceptibility of non-small cell lung carcinoma cells to anti-cancer drugs through DNA damage repair.
    3. Deubiquitinating enzyme Josephin-2 stabilizes PHGDH to promote a cancer stem cell phenotype in hepatocellular carcinoma.
      Title: Deubiquitinating enzyme Josephin-2 stabilizes PHGDH to promote a cancer stem cell phenotype in hepatocellular carcinoma.
    4. Deubiquitinating enzyme JOSD2 promotes hepatocellular carcinoma progression through interacting with and inhibiting CTNNB1 degradation.
      Title: Deubiquitinating enzyme JOSD2 promotes hepatocellular carcinoma progression through interacting with and inhibiting CTNNB1 degradation.
    5. The deubiquitinase JOSD2 is a positive regulator of glucose metabolism.
      Title: The deubiquitinase JOSD2 is a positive regulator of glucose metabolism.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ29018

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein deubiquitination TAS
    Traceable Author Statement
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    josephin-2
    Names
    josephin domain-containing protein 2
    NP_001257568.1
    NP_001257569.1
    NP_001257570.1
    NP_001257615.1
    NP_612207.1

    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_001270639.2 → NP_001257568.1  josephin-2 isoform 1

      See identical proteins and their annotated locations for NP_001257568.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 4 and 5 encode the same isoform (1).
      Source sequence(s)
      BC062416, HY056543
      Consensus CDS
      CCDS12797.1
      UniProtKB/Swiss-Prot
      M0QX25, Q8TAC2
      UniProtKB/TrEMBL
      Q7Z7N5
      Related
      ENSP00000468956.2, ENST00000598418.6
      Conserved Domains (1) summary
      pfam02099
      Location:23 → 166
      Josephin; Josephin

    2. NM_001270640.2 → NP_001257569.1  josephin-2 isoform 1

      See identical proteins and their annotated locations for NP_001257569.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
      Source sequence(s)
      AC008743, BC051380, HY056543
      Consensus CDS
      CCDS12797.1
      UniProtKB/Swiss-Prot
      M0QX25, Q8TAC2
      UniProtKB/TrEMBL
      Q7Z7N5
      Related
      ENSP00000472116.1, ENST00000601423.5
      Conserved Domains (1) summary
      pfam02099
      Location:23 → 166
      Josephin; Josephin

    3. NM_001270641.2 → NP_001257570.1  josephin-2 isoform 2

      See identical proteins and their annotated locations for NP_001257570.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK131052, BM970016
      Consensus CDS
      CCDS59413.1
      UniProtKB/Swiss-Prot
      Q8TAC2
      Related
      ENSP00000468860.1, ENST00000595669.5
      Conserved Domains (1) summary
      pfam02099
      Location:19 → 124
      Josephin; Josephin

    4. NM_001270686.2 → NP_001257615.1  josephin-2 isoform 1

      See identical proteins and their annotated locations for NP_001257615.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
      Source sequence(s)
      AC008743, AF247787, BM970016, BP328576
      Consensus CDS
      CCDS12797.1
      UniProtKB/Swiss-Prot
      M0QX25, Q8TAC2
      UniProtKB/TrEMBL
      Q7Z7N5
      Related
      ENSP00000470628.1, ENST00000594350.1
      Conserved Domains (1) summary
      pfam02099
      Location:23 → 166
      Josephin; Josephin

    5. NM_138334.4 → NP_612207.1  josephin-2 isoform 1

      See identical proteins and their annotated locations for NP_612207.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
      Source sequence(s)
      AC008743, AF247787, BM970016, BP328576
      Consensus CDS
      CCDS12797.1
      UniProtKB/Swiss-Prot
      M0QX25, Q8TAC2
      UniProtKB/TrEMBL
      Q7Z7N5
      Conserved Domains (1) summary
      pfam02099
      Location:23 → 166
      Josephin; Josephin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50505998..50511191 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53594861..53600045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAC2.1 GenPept UniProtKB/Swiss-Prot:Q8TAC2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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