Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UBE2A Gene

Aliases for UBE2A Gene

  • Ubiquitin Conjugating Enzyme E2 A 2 3
  • E2 Ubiquitin-Conjugating Enzyme A 3 4
  • Ubiquitin Conjugating Enzyme E2A 3 5
  • Ubiquitin Carrier Protein A 3 4
  • Ubiquitin-Protein Ligase A 3 4
  • RAD6 Homolog A 3 4
  • HHR6A 3 4
  • RAD6A 3 4
  • Ubiquitin-Conjugating Enzyme E2A (RAD6 Homolog) 2
  • Ubiquitin-Conjugating Enzyme E2A 2
  • EC 6.3.2.19 63
  • EC 2.3.2.23 4
  • MRXS30 3
  • MRXSN 3
  • UBC2 3
  • HR6A 4

External Ids for UBE2A Gene

Previous GeneCards Identifiers for UBE2A Gene

  • GC0XP113526
  • GC0XP115694
  • GC0XP116683
  • GC0XP117462
  • GC0XP118490
  • GC0XP118592
  • GC0XP118708
  • GC0XP108201

Summaries for UBE2A Gene

Entrez Gene Summary for UBE2A Gene

  • 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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for UBE2A Gene

UBE2A (Ubiquitin Conjugating Enzyme E2 A) is a Protein Coding gene. Diseases associated with UBE2A include mental retardation, x-linked syndromic, nascimento-type and x-linked intellectual disability, nascimento type. Among its related pathways are Immune System and Remodeling of Adherens Junctions. GO annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is UBE2B.

UniProtKB/Swiss-Prot for UBE2A Gene

  • Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at Lys-120 to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes Lys-11, as well as Lys-48-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA.

Gene Wiki entry for UBE2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE2A Gene

Genomics for UBE2A Gene

Regulatory Elements for UBE2A Gene

Promoters for UBE2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBE2A on UCSC Golden Path with GeneCards custom track

Genomic Location for UBE2A Gene

Chromosome:
X
Start:
119,574,467 bp from pter
End:
119,591,083 bp from pter
Size:
16,617 bases
Orientation:
Plus strand

Genomic View for UBE2A Gene

Genes around UBE2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2A Gene

Proteins for UBE2A Gene

  • Protein details for UBE2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49459-UBE2A_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 A
    Protein Accession:
    P49459
    Secondary Accessions:
    • A6NFE9
    • A6NGR2
    • A6NMF5
    • B2R7R9
    • D3DWI1
    • Q4TTG1
    • Q96FX4

    Protein attributes for UBE2A Gene

    Size:
    152 amino acids
    Molecular mass:
    17315 Da
    Quaternary structure:
    • Interacts with RAD18 and WAC.

    Alternative splice isoforms for UBE2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE2A Gene

Proteomics data for UBE2A Gene at MOPED

Post-translational modifications for UBE2A Gene

  • Phosphorylation at Ser-120 by CDK9 increases activity towards histone H2B.
  • Ubiquitination at Lys 75
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBE2A (UBE2A)

Protein Products

Domains & Families for UBE2A Gene

Gene Families for UBE2A Gene

Protein Domains for UBE2A Gene

Graphical View of Domain Structure for InterPro Entry

P49459

UniProtKB/Swiss-Prot:

UBE2A_HUMAN :
  • Belongs to the ubiquitin-conjugating enzyme family.
Family:
  • Belongs to the ubiquitin-conjugating enzyme family.
genes like me logo Genes that share domains with UBE2A: view

Function for UBE2A Gene

Molecular function for UBE2A Gene

GENATLAS Biochemistry:
ubiquitin conjugating enzyme E2A,involved in post replication repair
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.
UniProtKB/Swiss-Prot Function:
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at Lys-120 to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes Lys-11, as well as Lys-48-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA.

Enzyme Numbers (IUBMB) for UBE2A Gene

Gene Ontology (GO) - Molecular Function for UBE2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 11953320
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with UBE2A: view
genes like me logo Genes that share phenotypes with UBE2A: view

Human Phenotype Ontology for UBE2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UBE2A Gene

MGI Knock Outs for UBE2A:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets and HOMER Transcription for UBE2A Gene

Localization for UBE2A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBE2A Gene COMPARTMENTS Subcellular localization image for UBE2A gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for UBE2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001741 XY body IEA --
GO:0033503 HULC complex IDA 19410543
genes like me logo Genes that share ontologies with UBE2A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UBE2A Gene

Pathways & Interactions for UBE2A Gene

genes like me logo Genes that share pathways with UBE2A: view

UniProtKB/Swiss-Prot P49459-UBE2A_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for UBE2A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for UBE2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006281 DNA repair IGI 1717990
GO:0033522 histone H2A ubiquitination IDA 11953320
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with UBE2A: view

Drugs & Compounds for UBE2A Gene

(3) Drugs for UBE2A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for UBE2A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with UBE2A: view

Transcripts for UBE2A Gene

Unigene Clusters for UBE2A Gene

Ubiquitin-conjugating enzyme E2A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP5: - - - - -
SP6:
SP7:

Relevant External Links for UBE2A Gene

GeneLoc Exon Structure for
UBE2A
ECgene alternative splicing isoforms for
UBE2A

Expression for UBE2A Gene

mRNA expression in normal human tissues for UBE2A Gene

Protein differential expression in normal tissues from HIPED for UBE2A Gene

This gene is overexpressed in Amniocyte (18.2), Urine (7.2), and Oral epithelium (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBE2A Gene



SOURCE GeneReport for Unigene cluster for UBE2A Gene Hs.379466

genes like me logo Genes that share expression patterns with UBE2A: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for UBE2A Gene

Orthologs for UBE2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE2A Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia UBE2A 35
  • 95.61 (n)
  • 100 (a)
UBE2A 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ube2a 35
  • 93.42 (n)
  • 100 (a)
Ube2a 16
Ube2a 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBE2A 35
  • 99.78 (n)
  • 100 (a)
UBE2A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ube2a 35
  • 93.2 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia UBE2A 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBE2A 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBE2A 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBE2A 35
  • 89.04 (n)
  • 100 (a)
UBE2A 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBE2A 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6805 35
ube2a 35
  • 83.99 (n)
  • 100 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
ube2a 35
  • 81.58 (n)
  • 100 (a)
ube2a 36
  • 100 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta UbcD6 37
  • 87 (a)
UbcD6 36
  • 88 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ubc-1 37
  • 85 (a)
ubc-1 35
  • 69.57 (n)
  • 85.91 (a)
ubc-1 36
  • 67 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD6 36
  • 61 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons UBC1 35
  • 71.14 (n)
  • 77.18 (a)
soybean
(Glycine max)
eudicotyledons Gma.3735 35
rice
(Oryza sativa)
Liliopsida Os07g0166800 35
  • 71.14 (n)
  • 79.19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6239 36
  • 82 (a)
OneToMany
Species with no ortholog for UBE2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBE2A Gene

ENSEMBL:
Gene Tree for UBE2A (if available)
TreeFam:
Gene Tree for UBE2A (if available)

Paralogs for UBE2A Gene

Paralogs for UBE2A Gene

genes like me logo Genes that share paralogs with UBE2A: view

Variants for UBE2A Gene

Sequence variations from dbSNP and Humsavar for UBE2A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_066627 Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN)
VAR_066628 Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN)
rs4234 -- 119,583,237(+) GAACA(A/G)AGCTG reference, synonymous-codon
rs14982 -- 119,584,302(+) TGTCT(A/G)ATGTT utr-variant-3-prime
rs1057043 -- 119,576,281(+) GTAAC(A/T)TCTTG intron-variant

Variation tolerance for UBE2A Gene

Residual Variation Intolerance Score: 47.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBE2A Gene

HapMap Linkage Disequilibrium report
UBE2A
Human Gene Mutation Database (HGMD)
UBE2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UBE2A Gene

Disorders for UBE2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for UBE2A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked syndromic, nascimento-type
  • mental retardation, x-linked, syndromic, nascimento type
x-linked intellectual disability, nascimento type
  • x-linked intellectual disability-nail dystrophy-seizures syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UBE2A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UBE2A_HUMAN
  • Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. {ECO:0000269 PubMed:16909393, ECO:0000269 PubMed:20412111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UBE2A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBE2A
genes like me logo Genes that share disorders with UBE2A: view

No data available for Genatlas for UBE2A Gene

Publications for UBE2A Gene

  1. Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31. (PMID: 1559696) Koken M.H. … Hoeijmakers J.H. (Genomics 1992) 2 3 23 67
  2. Regulation of the ubiquitin-conjugating enzyme hHR6A by CDK-mediated phosphorylation. (PMID: 11953320) Sarcevic B. … Sutherland R.L. (EMBO J. 2002) 3 23
  3. The human RAD18 gene product interacts with HHR6A and HHR6B. (PMID: 10908344) Xin H. … Wang Z. (Nucleic Acids Res. 2000) 3 23
  4. UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. (PMID: 25287747) Thunstrom S. … Stefanova M. (Am. J. Med. Genet. A 2015) 3
  5. RAD6 promotes homologous recombination repair by activating the autophagy-mediated degradation of heterochromatin protein HP1. (PMID: 25384975) Chen S. … Sun F.L. (Mol. Cell. Biol. 2015) 3

Products for UBE2A Gene

Sources for UBE2A Gene

Back to Top

Content