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

    Gene ID: 7325, updated on 4-Feb-2024

    Summary

    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 cellular response to DNA damage stimulus and positive regulation of G1/S transition of mitotic cell cycle. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 1.5), fat (RPKM 1.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See UBE2E2 in Genome Data Viewer
    Location:
    3p24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (23203098..23591925)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (23208135..23596988)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001370225.1NP_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:59196
      UQ_con; Ubiquitin-conjugating enzyme
    2. NM_001370226.1NP_001357155.1  ubiquitin-conjugating enzyme E2 E2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092038, AC135966
      Conserved Domains (1) summary
      pfam00179
      Location:59171
      UQ_con; Ubiquitin-conjugating enzyme
    3. NM_001370227.1NP_001357156.1  ubiquitin-conjugating enzyme E2 E2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC135966
      UniProtKB/TrEMBL
      F8W8F0
    4. NM_001370228.1NP_001357157.1  ubiquitin-conjugating enzyme E2 E2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC135966
      UniProtKB/TrEMBL
      F8W8F0
    5. NM_152653.4NP_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:59196
      UQ_con; Ubiquitin-conjugating enzyme

    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_000003.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

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

    4. XM_047448844.1XP_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_054347739.1XP_054203714.1  ubiquitin-conjugating enzyme E2 E2 isoform X3

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