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    UBE2V2 ubiquitin conjugating enzyme E2 V2 [ Homo sapiens (human) ]

    Gene ID: 7336, updated on 26-Nov-2024

    Summary

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    Official Symbol
    UBE2V2provided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 V2provided by HGNC
    Primary source
    HGNC:HGNC:12495
    See related
    Ensembl:ENSG00000169139 MIM:603001; AllianceGenome:HGNC:12495
    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
    MMS2; UEV2; EDPF1; UEV-2; DDVIT1; EDAF-1; EDPF-1; DDVit-1
    Summary
    Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 22.2), adrenal (RPKM 12.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBE2V2 in Genome Data Viewer
    Location:
    8q11.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (47997437..48064708)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (48374223..48441494)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (48920991..48977268)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19179 Neighboring gene minichromosome maintenance complex component 4 Neighboring gene RNA, U6 small nuclear 519, pseudogene Neighboring gene UBE2V2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48909281-48909780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19181 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:48947276-48947776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:48947777-48948277 Neighboring gene MPRA-validated peak7010 silencer Neighboring gene uncharacterized LOC107986941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:49017963-49018613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:49042982-49043566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:49091401-49091902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:49091903-49092402 Neighboring gene cell division cycle associated 8 pseudogene

    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. UBE2V2 promotes metastasis by regulating EMT and predicts a poor prognosis in lung adenocarcinoma. Yang Z, et al. Cancer Med, 2023 Oct. PMID 37755128, Free PMC Article
    2. Molecular cloning of a 1alpha,25-dihydroxyvitamin D3-inducible transcript (DDVit 1) in human blood monocytes. Fritsche J, et al. Biochem Biophys Res Commun, 1997 Jun 18. PMID 9199207
    3. UBE2V2 (MMS2) is not required for effective immunoglobulin gene conversion or DNA damage tolerance in DT40. Simpson LJ, et al. DNA Repair (Amst), 2005 Apr 4. PMID 15725630
    4. Main chain and side chain dynamics of the ubiquitin conjugating enzyme variant human Mms2 in the free and ubiquitin-bound States. Spyracopoulos L, et al. Biochemistry, 2005 Jun 21. PMID 15952783
    5. [Roles of hMMS2 gene in reversing the oxaliplatin tolerance of human colon carcinoma cells]. Zhang L, et al. Yi Chuan, 2014 Apr. PMID 24846979

    See all (91) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBE2V2 promotes metastasis by regulating EMT and predicts a poor prognosis in lung adenocarcinoma.
      Title: UBE2V2 promotes metastasis by regulating EMT and predicts a poor prognosis in lung adenocarcinoma.
    2. UBE2V2 Positively Correlates With PD-L1 Expression and Confers Poor Patient Survival in Lung Adenocarcinoma.
      Title: UBE2V2 Positively Correlates With PD-L1 Expression and Confers Poor Patient Survival in Lung Adenocarcinoma.
    3. Uev1A amino terminus stimulates poly-ubiquitin chain assembly and is required for NF-kappaB activation.
      Title: Uev1A amino terminus stimulates poly-ubiquitin chain assembly and is required for NF-κB activation.
    4. Ubc13-Mms2 cooperates with a family of RING E3 proteins in budding yeast membrane protein sorting.
      Title: Ubc13-Mms2 cooperates with a family of RING E3 proteins in budding yeast membrane protein sorting.
    5. Data suggest that ubiquitin-conjugating enzyme E2 variant 2 (Ube2V2) and ring finger protein 4 (RNF4) together induce an active conformation of the ubiquitin-conjugating enzyme Ubc13-ubiquitin (Ubc13~Ub) thioester.
      Title: Structural basis for the RING-catalyzed synthesis of K63-linked ubiquitin chains.
    6. Functional analysis of selected regulated proteins revealed that knockdown of HNRPD, PHB2 and UB2V2 can increase HCMV replication, while knockdown of A4 and KSRP resulted in decreased HCMV replication.
      Title: Subcellular quantitative proteomic analysis reveals host proteins involved in human cytomegalovirus infection.
    7. suppression of hMMS2 reverses L-OHP tolerance in differentiated human colorectal carcinoma cells by promoting apoptosis
      Title: [Roles of hMMS2 gene in reversing the oxaliplatin tolerance of human colon carcinoma cells].
    8. Data show RING finger (RNF) E3 ubiquitin ligase RNF8 dimerizes and binds to E2 ubiquitin-conjugating complex Ubc13/Mms2 with formation of Lys-63 ubiquitin chains, whereas the RNF168 RING domain is a monomer and does not catalyze Lys-6 ubiquitylation.
      Title: Molecular insights into the function of RING finger (RNF)-containing proteins hRNF8 and hRNF168 in Ubc13/Mms2-dependent ubiquitylation.
    9. the crystal structure of human OTUB1 in complex with human UBC13 and MMS2
      Title: Molecular basis of Lys-63-linked polyubiquitination inhibition by the interaction between human deubiquitinating enzyme OTUB1 and ubiquitin-conjugating enzyme UBC13.
    10. entire coding region and splice junctions of RNF8, UBC13 and MMS2 genes were screened for mutations in affected index cases from 123 Northern Finnish breast cancer families
      Title: Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA double-strand break processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of double-strand break repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein K63-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in postreplication repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K63-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein polyubiquitination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein ubiquitination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of UBC13-MMS2 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of UBC13-MMS2 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquitin conjugating enzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-conjugating enzyme E2 variant 2
    Names
    1 alpha,25-dihydroxyvitamin D3-inducible
    DDVit 1
    MMS2 homolog
    enterocyte differentiation promoting factor
    enterocyte differentiation-associated factor 1
    enterocyte differentiation-associated factor EDAF-1
    enterocyte differentiation-promoting factor 1
    methyl methanesulfonate sensitive 2, S. cerevisiae, homolog of
    vitamin D3-inducible protein

    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_003350.3 → NP_003341.1  ubiquitin-conjugating enzyme E2 variant 2

      See identical proteins and their annotated locations for NP_003341.1

      Status: REVIEWED

      Source sequence(s)
      AC021236
      Consensus CDS
      CCDS43738.1
      UniProtKB/Swiss-Prot
      Q15819
      UniProtKB/TrEMBL
      A0M8W4
      Related
      ENSP00000428209.1, ENST00000523111.7
      Conserved Domains (1) summary
      smart00212
      Location:14 → 145
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      47997437..48064708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013808.3 → XP_016869297.2  ubiquitin-conjugating enzyme E2 variant 2 isoform X2

    2. XM_011517583.4 → XP_011515885.1  ubiquitin-conjugating enzyme E2 variant 2 isoform X1

      Conserved Domains (1) summary
      smart00212
      Location:42 → 173
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      48374223..48441494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361177.1 → XP_054217152.1  ubiquitin-conjugating enzyme E2 variant 2 isoform X2

    2. XM_054361176.1 → XP_054217151.1  ubiquitin-conjugating enzyme E2 variant 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15819.4 GenPept UniProtKB/Swiss-Prot:Q15819

    Gene LinkOut

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