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    UBE2Q2 ubiquitin conjugating enzyme E2 Q2 [ Homo sapiens (human) ]

    Gene ID: 92912, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UBE2Q2provided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 Q2provided by HGNC
    Primary source
    HGNC:HGNC:19248
    See related
    Ensembl:ENSG00000140367 MIM:612501; AllianceGenome:HGNC:19248
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination. Predicted to be located in cytosol. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.2), prostate (RPKM 10.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See UBE2Q2 in Genome Data Viewer
    Location:
    15q24.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (75843447..75901078)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (73714215..73771828)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (76135788..76193419)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene golgin A6 family member E, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76084438-76084938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76084939-76085439 Neighboring gene RNA, 7SL, cytoplasmic 319, pseudogene Neighboring gene dynamin 1 pseudogene 49 Neighboring gene Sharpr-MPRA regulatory region 8353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6683 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:76135870-76136767 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:76163679-76164628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:76195387-76196046 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:76196047-76196704 Neighboring gene RNA, 7SL, cytoplasmic 510, pseudogene Neighboring gene F-box protein 22 Neighboring gene neuregulin 4 Neighboring gene uncharacterized LOC124903616

    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 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. Ubiquitin-conjugating enzyme UBE2Q2 suppresses cell proliferation and is down-regulated in recurrent head and neck cancer. Maeda H, et al. Mol Cancer Res, 2009 Sep. PMID 19723876
    2. Overexpression of the novel human gene, UBE2Q2, in breast cancer. Nikseresht M, et al. Cancer Genet Cytogenet, 2010 Mar. PMID 20193842
    3. Expression of UBE2Q2, a putative member of the ubiquitin-conjugating enzyme family in pediatric acute lymphoblastic leukemia. Seghatoleslam A, et al. Arch Iran Med, 2012 Jun. PMID 22642244
    4. Inactivation of the ubiquitin conjugating enzyme UBE2Q2 causes a prophase arrest and enhanced apoptosis in response to microtubule inhibiting agents. Banerjee S, et al. Oncogene, 2007 Oct 4. PMID 17471241
    5. Promoter Methylation Status of Two Novel Human Genes, UBE2Q1 and UBE2Q2, in Colorectal Cancer: a New Finding in Iranian Patients. Mokarram P, et al. Asian Pac J Cancer Prev, 2015. PMID 26745068

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBE2Q1 hypomethylation is associated with Colorectal Cancer.
      Title: Promoter Methylation Status of Two Novel Human Genes, UBE2Q1 and UBE2Q2, in Colorectal Cancer: a New Finding in Iranian Patients.
    2. The newly characterized human gene, UBE2Q2, may have implications for the pathogenesis of acute lymphoblastic leukemia.
      Title: Expression of UBE2Q2, a putative member of the ubiquitin-conjugating enzyme family in pediatric acute lymphoblastic leukemia.
    3. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: New loci associated with kidney function and chronic kidney disease.
    4. In the 21 breast cancer cases investigated, a high increase in UBE2Q2 expression was found in 8 breast cancers (38.1%), a moderately increased UBE2Q2 expression was observed in 7 cases (33.3%), and no sig. changes were detected in 6 cases (28.6%).
      Title: Overexpression of the novel human gene, UBE2Q2, in breast cancer.
    5. Found high expression levels of UBE2Q2 in human head and neck carcinoma cell lines and cancer tissues; found the level of UBE2Q2 is decreased in cell lines and cancer tissues that have resistance to CDDP or docetaxel.
      Title: Ubiquitin-conjugating enzyme UBE2Q2 suppresses cell proliferation and is down-regulated in recurrent head and neck cancer.
    6. Inhibition of the UBE2Q2 protein causes cells to undergo a prolonged prophase arrest suggesting that UBE2Q2 normally functions to antagonize an early mitotic checkpoint.
      Title: Inactivation of the ubiquitin conjugating enzyme UBE2Q2 causes a prophase arrest and enhanced apoptosis in response to microtubule inhibiting agents.
    7. the novel LOC92912 gene is characterized. It is over-expressed in hypopharyngeal tumours. Its functions may be linked with the cytoskeleton; it may represent a new target for cancer therapeutics.
      Title: Analysis of a novel human gene, LOC92912, over-expressed in hypopharyngeal tumours.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    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

    • DKFZp762C143

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin conjugating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein K48-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-conjugating enzyme E2 Q2
    Names
    E2 ubiquitin-conjugating enzyme Q2
    ubiquitin carrier protein Q2
    ubiquitin conjugating enzyme E2Q family member 2
    ubiquitin-protein ligase Q2
    NP_001138807.1
    NP_001271311.1
    NP_775740.1
    XP_005254844.1
    XP_005254845.1
    XP_006720833.1
    XP_011520530.1
    XP_016878215.1
    XP_016878216.1
    XP_016878217.1
    XP_047289302.1
    XP_047289303.1
    XP_047289305.1
    XP_047289306.1
    XP_047289307.1
    XP_054235188.1
    XP_054235189.1
    XP_054235190.1
    XP_054235191.1
    XP_054235192.1
    XP_054235193.1
    XP_054235194.1
    XP_054235195.1
    XP_054235196.1
    XP_054235197.1
    XP_054235198.1
    XP_054235199.1

    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_001145335.1 → NP_001138807.1  ubiquitin-conjugating enzyme E2 Q2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA476260, AC027104, AK296234, BC017708
      Consensus CDS
      CCDS45309.1
      UniProtKB/Swiss-Prot
      Q8WVN8
      Related
      ENSP00000456229.1, ENST00000561851.5
      Conserved Domains (1) summary
      cd00195
      Location:190 → 346
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

    2. NM_001284382.2 → NP_001271311.1  ubiquitin-conjugating enzyme E2 Q2 isoform 3

      See identical proteins and their annotated locations for NP_001271311.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC019294, AC027104
      Consensus CDS
      CCDS66839.1
      UniProtKB/Swiss-Prot
      Q8WVN8
      Related
      ENSP00000456324.1, ENST00000569423.5
      Conserved Domains (2) summary
      cd00195
      Location:171 → 327
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
      cl02687
      Location:9 → 94
      RWD; RWD domain

    3. NM_173469.4 → NP_775740.1  ubiquitin-conjugating enzyme E2 Q2 isoform 1

      See identical proteins and their annotated locations for NP_775740.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC019294, AC027104
      Consensus CDS
      CCDS10286.1
      UniProtKB/Swiss-Prot
      B7Z3Q2, H3BRG2, Q8N4G6, Q8WVN8, Q96J08
      Related
      ENSP00000267938.4, ENST00000267938.9
      Conserved Domains (2) summary
      cd00195
      Location:206 → 362
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
      cl02687
      Location:9 → 94
      RWD; RWD domain

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      75843447..75901078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254787.3 → XP_005254844.1  ubiquitin-conjugating enzyme E2 Q2 isoform X2

      Conserved Domains (2) summary
      cl00154
      Location:206 → 314
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
      cl02687
      Location:9 → 94
      RWD; RWD domain

    2. XM_005254788.3 → XP_005254845.1  ubiquitin-conjugating enzyme E2 Q2 isoform X3

      Conserved Domains (2) summary
      cl00154
      Location:194 → 283
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
      cl02687
      Location:9 → 94
      RWD; RWD domain

    3. XM_006720770.3 → XP_006720833.1  ubiquitin-conjugating enzyme E2 Q2 isoform X8

      Conserved Domains (1) summary
      cl02687
      Location:9 → 94
      RWD; RWD domain

    4. XM_017022727.3 → XP_016878216.1  ubiquitin-conjugating enzyme E2 Q2 isoform X5

    5. XM_017022728.3 → XP_016878217.1  ubiquitin-conjugating enzyme E2 Q2 isoform X7

    6. XM_047433350.1 → XP_047289306.1  ubiquitin-conjugating enzyme E2 Q2 isoform X10

    7. XM_047433349.1 → XP_047289305.1  ubiquitin-conjugating enzyme E2 Q2 isoform X9

    8. XM_047433351.1 → XP_047289307.1  ubiquitin-conjugating enzyme E2 Q2 isoform X12

    9. XM_011522228.3 → XP_011520530.1  ubiquitin-conjugating enzyme E2 Q2 isoform X11

      Conserved Domains (1) summary
      cl02687
      Location:9 → 94
      RWD; RWD domain

    10. XM_017022726.2 → XP_016878215.1  ubiquitin-conjugating enzyme E2 Q2 isoform X4

    11. XM_047433347.1 → XP_047289303.1  ubiquitin-conjugating enzyme E2 Q2 isoform X6

    12. XM_047433346.1 → XP_047289302.1  ubiquitin-conjugating enzyme E2 Q2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      73714215..73771828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379214.1 → XP_054235189.1  ubiquitin-conjugating enzyme E2 Q2 isoform X2

    2. XM_054379215.1 → XP_054235190.1  ubiquitin-conjugating enzyme E2 Q2 isoform X3

    3. XM_054379220.1 → XP_054235195.1  ubiquitin-conjugating enzyme E2 Q2 isoform X8

    4. XM_054379217.1 → XP_054235192.1  ubiquitin-conjugating enzyme E2 Q2 isoform X5

    5. XM_054379219.1 → XP_054235194.1  ubiquitin-conjugating enzyme E2 Q2 isoform X7

    6. XM_054379222.1 → XP_054235197.1  ubiquitin-conjugating enzyme E2 Q2 isoform X10

    7. XM_054379221.1 → XP_054235196.1  ubiquitin-conjugating enzyme E2 Q2 isoform X9

    8. XM_054379224.1 → XP_054235199.1  ubiquitin-conjugating enzyme E2 Q2 isoform X12

    9. XM_054379223.1 → XP_054235198.1  ubiquitin-conjugating enzyme E2 Q2 isoform X11

    10. XM_054379216.1 → XP_054235191.1  ubiquitin-conjugating enzyme E2 Q2 isoform X4

    11. XM_054379218.1 → XP_054235193.1  ubiquitin-conjugating enzyme E2 Q2 isoform X6

    12. XM_054379213.1 → XP_054235188.1  ubiquitin-conjugating enzyme E2 Q2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVN8.1 GenPept UniProtKB/Swiss-Prot:Q8WVN8

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