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

Gene ID: 7319, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See UBE2A in Genome Data Viewer
Location:
Xq24
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119574563..119584423)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117952276..117962139)
RS_2024_09 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

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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. UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism. Giugliano T, et al. Am J Med Genet A, 2018 Mar. PMID 29283210
  2. De novo UBE2A mutations are recurrently acquired during chronic myeloid leukemia progression and interfere with myeloid differentiation pathways. Magistroni V, et al. Haematologica, 2019 Sep. PMID 30819912, Free PMC Article
  3. A novel UBE2A mutation in a Chinese family with X-linked intellectual disability. Jia W, et al. J Gene Med, 2020 Aug. PMID 32222108
  4. Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Cordeddu V, et al. Clin Genet, 2020 Aug. PMID 32415735
  5. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. de Leeuw N, et al. Am J Med Genet A, 2010 Dec. PMID 21108393

See all (111) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126 in helix-3 affect ubiquitination activity and decrease enzyme stability.
    Title: Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126 in helix-3 affect ubiquitination activity and decrease enzyme stability.
  2. Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes.
    Title: Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes.
  3. A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
    Title: A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
  4. The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes.
    Title: The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes.
  5. A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
    Title: A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
  6. Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
    Title: Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
  7. Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
    Title: Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
  8. UBE2A mutations that are recurrently acquired during chronic myeloid leukemia progression interfere with myeloid differentiation pathways
    Title: De novo UBE2A mutations are recurrently acquired during chronic myeloid leukemia progression and interfere with myeloid differentiation pathways.
  9. These variants constitute the majority of the RAD6B transcriptome in contrast to RAD6A, which was predominantly wild-type. The expression of functional RAD6B variants only in melanomas reveals RAD6B's molecular heterogeneity and its association with melanoma pathogenesis.
    Title: Alternative Splicing of RAD6B and Not RAD6A is Selectively Increased in Melanoma: Identification and Functional Characterization.
  10. UBE2A Q93E mutation, which was identified in two brothers with mild intellectual disability, perturbs the UBE2A catalytic microenvironment essential for lysine deprotonation during ubiquitin transfer, thus generating an enzyme that is disabled but not dead.
    Title: Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
Submit: New GeneRIF Correction See all GeneRIFs (27)

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

Associated conditions

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

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

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 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 positive regulation of mitophagy IDA
Inferred from Direct Assay
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 
located_in chromatin ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in late endosome IEA
Inferred from Electronic Annotation
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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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)

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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.

Genomic

  1. NG_009267.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001282161.2 → NP_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:1 → 112
    UQ_con; Ubiquitin-conjugating enzyme

  2. NM_003336.4 → NP_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:8 → 145
    UQ_con; Ubiquitin-conjugating enzyme

  3. NM_181762.3 → NP_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:8 → 115
    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_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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49459.2 GenPept UniProtKB/Swiss-Prot:P49459

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