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    UBE2E2 ubiquitin conjugating enzyme E2 E2 [ Homo sapiens (human) ]

    Gene ID: 7325, updated on 28-Oct-2024

    Summary

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    Official Symbol
    UBE2E2provided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 E2provided by HGNC
    Primary source
    HGNC:HGNC:12478
    See related
    Ensembl:ENSG00000182247 MIM:602163; AllianceGenome:HGNC:12478
    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
    Also known as
    UBCH8
    Summary
    Enables ISG15 transferase activity and ubiquitin conjugating enzyme activity. Involved in protein modification by small protein conjugation. Acts upstream of or within DNA damage response and positive regulation of G1/S transition of mitotic cell cycle. Predicted to be active in nucleus. Implicated in type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 1.5), fat (RPKM 1.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBE2E2 in Genome Data Viewer
    Location:
    3p24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (23203098..23591925)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (23208135..23596988)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (23244589..23633416)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19590 Neighboring gene RPL24 pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:23243491-23244466 Neighboring gene UBE2E2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19592 Neighboring gene MPRA-validated peak4575 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19594 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:23390324-23391523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19595 Neighboring gene C11orf98 pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68697 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68737 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:23547704-23548204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:23548205-23548705 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68793 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:23631277-23631776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:23650116-23650712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:23650713-23651308 Neighboring gene RNA, U6 small nuclear 922, pseudogene Neighboring gene RNA, U6 small nuclear 788, 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 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. Putative association between UBE2E2 polymorphisms and the risk of gestational diabetes mellitus. Kim JY, et al. Gynecol Endocrinol, 2013 Oct. PMID 23862583
    2. Lack of association between UBE2E2 gene polymorphism (rs7612463) and type 2 diabetes mellitus in a Saudi population. Alharbi KK, et al. Acta Biochim Pol, 2014. PMID 25337779
    3. Association between UBE2E2 variant rs7612463 and type 2 diabetes mellitus in a Chinese Han population. Kazakova EV, et al. Acta Biochim Pol, 2015. PMID 26020062
    4. cDNA cloning, characterization, and chromosome mapping of UBE2E2 encoding a human ubiquitin-conjugating E2 enzyme. Kimura M, et al. Cytogenet Cell Genet, 1997. PMID 9371400
    5. UBE2E2 enhances Snail-mediated epithelial-mesenchymal transition and Nrf2-mediated antioxidant activity in ovarian cancer. Hong X, et al. Cell Death Dis, 2023 Feb 10. PMID 36765041, Free PMC Article

    See all (93) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBE2E2 enhances Snail-mediated epithelial-mesenchymal transition and Nrf2-mediated antioxidant activity in ovarian cancer.
      Title: UBE2E2 enhances Snail-mediated epithelial-mesenchymal transition and Nrf2-mediated antioxidant activity in ovarian cancer.
    2. changes in methylation rates in umbilical cord samples were associated with the proportion of Firmicutes in the maternal gut
      Title: Associations between changes in the maternal gut microbiome and differentially methylated regions of diabetes-associated genes in fetuses: A pilot study from a birth cohort study.
    3. We investigated the modification of air pollution and diabetes association by a genetic risk score covering 63 T2D genes. Five single variants near GRB14, UBE2E2, PTPRD, VPS26A and KCNQ1 showed nominally significant interactions with PM10 (P<0.05). Our results suggest that genetic risk for T2D may modify susceptibility to air pollution through alterations in insulin sensitivity.
      Title: Air pollution and diabetes association: Modification by type 2 diabetes genetic risk score.
    4. Ube2e2 underexpression is associated with metabolic diseases.
      Title: Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.
    5. After adjustment for age, sex, and BMI, rs163182 in KCNQ1 and rs7612463 in UBE2E2 were found to be associated with Type 2 Diabetes Mellitus risk in Chinese Han population.
      Title: Type 2 Diabetes Risk Allele UBE2E2 Is Associated With Decreased Glucose-Stimulated Insulin Release in Elderly Chinese Han Individuals.
    6. rs7612463 UBE2E2 single nucleotide polymorphism is associated with type 2 diabetes mellitus in a Chinese Han population.
      Title: Association between UBE2E2 variant rs7612463 and type 2 diabetes mellitus in a Chinese Han population.
    7. Study found lack of association between UBE2E2 gene polymorphism (rs7612463) and type 2 diabetes mellitus in a Saudi population
      Title: Lack of association between UBE2E2 gene polymorphism (rs7612463) and type 2 diabetes mellitus in a Saudi population.
    8. The genetic variants of UBE2E2 are associated with gestational diabetes mellitus and fasting blood glucose.
      Title: Putative association between UBE2E2 polymorphisms and the risk of gestational diabetes mellitus.
    9. Single nucleotide polymorphism in UBE2E2 is associated with type 2 diabetes.
      Title: A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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 study identifies three novel loci for type 2 diabetes.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Genome-wide association study of atypical psychosis.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    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)

    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

    • FLJ25157

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ISG15 transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ISG15 transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 conjugating enzyme activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ISG15-protein conjugation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ISG15-protein conjugation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of G1/S transition of mitotic cell cycle IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein K11-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K11-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    involved_in protein K63-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K63-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 E2
    Names
    E2 ubiquitin-conjugating enzyme E2
    ubiquitin carrier protein E2
    ubiquitin conjugating enzyme E2E 2
    ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)
    ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)
    ubiquitin-protein ligase E2
    NP_001357154.1
    NP_001357155.1
    NP_001357156.1
    NP_001357157.1
    NP_689866.1
    XP_016862615.2
    XP_047304799.1
    XP_047304800.1
    XP_047304801.1
    XP_054203713.1
    XP_054203714.1

    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_001370225.1 → NP_001357154.1  ubiquitin-conjugating enzyme E2 E2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC116992, BI603911, DB476522, HY006728
      Consensus CDS
      CCDS2637.1
      UniProtKB/Swiss-Prot
      Q96LR5
      Related
      ENSP00000401053.1, ENST00000425792.5
      Conserved Domains (1) summary
      pfam00179
      Location:59 → 196
      UQ_con; Ubiquitin-conjugating enzyme

    2. NM_001370226.1 → NP_001357155.1  ubiquitin-conjugating enzyme E2 E2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092038, AC135966
      Conserved Domains (1) summary
      pfam00179
      Location:59 → 171
      UQ_con; Ubiquitin-conjugating enzyme

    3. NM_001370227.1 → NP_001357156.1  ubiquitin-conjugating enzyme E2 E2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC135966
      UniProtKB/TrEMBL
      F8W8F0

    4. NM_001370228.1 → NP_001357157.1  ubiquitin-conjugating enzyme E2 E2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC135966
      UniProtKB/TrEMBL
      F8W8F0

    5. NM_152653.4 → NP_689866.1  ubiquitin-conjugating enzyme E2 E2 isoform 1

      See identical proteins and their annotated locations for NP_689866.1

      Status: VALIDATED

      Source sequence(s)
      AC116992, AK057886, BC022332, CB851345
      Consensus CDS
      CCDS2637.1
      UniProtKB/Swiss-Prot
      Q96LR5
      Related
      ENSP00000379931.1, ENST00000396703.6
      Conserved Domains (1) summary
      pfam00179
      Location:59 → 196
      UQ_con; Ubiquitin-conjugating enzyme

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      23203098..23591925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448845.1 → XP_047304801.1  ubiquitin-conjugating enzyme E2 E2 isoform X3

    2. XM_017007126.2 → XP_016862615.2  ubiquitin-conjugating enzyme E2 E2 isoform X2

    3. XM_047448843.1 → XP_047304799.1  ubiquitin-conjugating enzyme E2 E2 isoform X1

    4. XM_047448844.1 → XP_047304800.1  ubiquitin-conjugating enzyme E2 E2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      23208135..23596988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347739.1 → XP_054203714.1  ubiquitin-conjugating enzyme E2 E2 isoform X3

    2. XM_054347738.1 → XP_054203713.1  ubiquitin-conjugating enzyme E2 E2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LR5.1 GenPept UniProtKB/Swiss-Prot:Q96LR5

    Gene LinkOut

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

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