Format

Send to:

Choose Destination

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

Gene ID: 7319, updated on 7-Jun-2020

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
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

Genomic context

See UBE2A in Genome Data Viewer
Location:
Xq24
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (119574563..119584423)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118708499..118718381)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985719 Neighboring gene Sharpr-MPRA regulatory region 9216 Neighboring gene chromosome X open reading frame 56 Neighboring gene NFKB repressing factor Neighboring gene septin 6 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 mental retardation, Nascimento type, X-linked
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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin conjugating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin conjugating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA repair IGI
Inferred from Genetic Interaction
more info
PubMed 
blastocyst hatching IEA
Inferred from Electronic Annotation
more info
 
histone H2A ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
histone ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
postreplication repair NAS
Non-traceable Author Statement
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K11-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
 
response to UV IGI
Inferred from Genetic Interaction
more info
PubMed 
ubiquitin-dependent protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
HULC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
HULC complex IDA
Inferred from Direct Assay
more info
PubMed 
XY body IEA
Inferred from Electronic Annotation
more info
 
chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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/Swiss-Prot
    P49459
    UniProtKB/TrEMBL
    A0A0D9SG71
    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
    P49459
    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/Swiss-Prot
    P49459
    Related
    ENSP00000486599.1, ENST00000625938.2
    Conserved Domains (1) summary
    pfam00179
    Location:8115
    UQ_con; Ubiquitin-conjugating enzyme

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    119574563..119584423
    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.
Support Center