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

Gene ID: 126119, updated on 5-Mar-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
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Genomic context

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Location:
19q13.33
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50505998..50511191, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53594861..53600045, complement)
105.20220307 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 Josephin-2 stabilizes PHGDH to promote a cancer stem cell phenotype in hepatocellular carcinoma. Wang Y, et al. Genes Genomics, 2023 Feb. PMID 36583817
  2. 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
  3. Deubiquitinase JOSD2 stabilizes YAP/TAZ to promote cholangiocarcinoma progression. Qian M, et al. Acta Pharm Sin B, 2021 Dec. PMID 35024322, Free PMC Article
  4. Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes. Tzvetkov N, et al. Biol Chem, 2007 Sep. PMID 17696782
  5. The deubiquitinase JOSD2 is a positive regulator of glucose metabolism. Krassikova L, et al. Cell Death Differ, 2021 Mar. PMID 33082514, Free PMC Article

See all (27) 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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
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_2023_10

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

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