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    UBE2A ubiquitin conjugating enzyme E2 A [ Homo sapiens (human) ]

    Gene ID: 7319, updated on 1-Mar-2024

    Summary

    Official Symbol
    UBE2Aprovided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 Aprovided by HGNC
    Primary source
    HGNC:HGNC:12472
    See related
    Ensembl:ENSG00000077721 MIM:312180; AllianceGenome:HGNC:12472
    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
    UBC2; HHR6A; MRXSN; RAD6A; MRXS30
    Summary
    The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in placenta (RPKM 31.4), colon (RPKM 30.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See UBE2A in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119574563..119584423)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117952276..117962139)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118708526..118718386)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118675673-118676174 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118676175-118676674 Neighboring gene STING1 ER exit protein 1 Neighboring gene uncharacterized LOC124905208 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118708298-118708798 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118708799-118709299 Neighboring gene NFKB repressing factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29882 Neighboring gene septin 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29884 Neighboring gene microRNA 766

    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

    Associated conditions

    Description Tests
    Syndromic X-linked intellectual disability Nascimento type
    MedGen: C3275464 OMIM: 300860 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-05-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-05-22)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone ubiquitin ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding TAS
    Traceable Author Statement
    more info
     
    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 ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in G2/M transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in postreplication repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein polyubiquitination TAS
    Traceable Author Statement
    more info
     
    involved_in response to UV IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of HULC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of HULC complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ubiquitin-conjugating enzyme E2 A
    Names
    E2 ubiquitin-conjugating enzyme A
    RAD6 homolog A
    ubiquitin carrier protein A
    ubiquitin-conjugating enzyme E2A
    ubiquitin-protein ligase A
    NP_001269090.1
    NP_003327.2
    NP_861427.1

    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.

    Genomic

    1. NG_009267.1 RefSeqGene

      Range
      5028..14888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282161.2NP_001269090.1  ubiquitin-conjugating enzyme E2 A isoform 4

      See identical proteins and their annotated locations for NP_001269090.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI784380, DA068506, M74524
      Consensus CDS
      CCDS78500.1
      UniProtKB/TrEMBL
      A0A0D9SG71, B4DWT6
      Related
      ENSP00000487203.1, ENST00000628549.1
      Conserved Domains (1) summary
      pfam00179
      Location:1112
      UQ_con; Ubiquitin-conjugating enzyme
    2. NM_003336.4NP_003327.2  ubiquitin-conjugating enzyme E2 A isoform 1

      See identical proteins and their annotated locations for NP_003327.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI784380, DA599154, M74524
      Consensus CDS
      CCDS14580.1
      UniProtKB/Swiss-Prot
      A6NFE9, A6NGR2, A6NMF5, B2R7R9, D3DWI1, P49459, Q4TTG1, Q96FX4
      UniProtKB/TrEMBL
      Q53G86
      Related
      ENSP00000360613.2, ENST00000371558.7
      Conserved Domains (1) summary
      pfam00179
      Location:8145
      UQ_con; Ubiquitin-conjugating enzyme
    3. NM_181762.3NP_861427.1  ubiquitin-conjugating enzyme E2 A isoform 2

      See identical proteins and their annotated locations for NP_861427.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AI784380, AK297696, DA599154, M74524
      Consensus CDS
      CCDS14581.1
      UniProtKB/TrEMBL
      Q53G86
      Related
      ENSP00000486599.1, ENST00000625938.2
      Conserved Domains (1) summary
      pfam00179
      Location:8115
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      119574563..119584423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791817.1 Reference GRCh38.p14 PATCHES

      Range
      25564..35424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      117952276..117962139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181777.1: Suppressed sequence

      Description
      NM_181777.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.