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 ... See more...

Aliases for UBE2A Gene

Aliases for UBE2A Gene

  • Ubiquitin Conjugating Enzyme E2 A 2 3 5
  • HHR6A 2 3 4
  • RAD6A 2 3 4
  • Ubiquitin-Conjugating Enzyme E2 A 3 4
  • E2 Ubiquitin-Conjugating Enzyme A 3 4
  • Ubiquitin-Conjugating Enzyme E2A 2 3
  • Ubiquitin Carrier Protein A 3 4
  • Ubiquitin-Protein Ligase A 3 4
  • RAD6 Homolog A 3 4
  • UBC2 2 3
  • HR6A 2 4
  • Ubiquitin-Conjugating Enzyme E2A (RAD6 Homolog) 2
  • EC 6.3.2.19 50
  • EC 2.3.2.23 4
  • MRXS30 3
  • MRXSN 3
  • UBE2A 5

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 cognitive disability. 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 Parkinson Disease, Late-Onset. Among its related pathways are Class I MHC mediated antigen processing and presentation and Remodeling of Adherens Junctions. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE2A Gene

Genomics for UBE2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBE2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ119572 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.1 55 3.2 SP1 NCOR1 ZNF600 SIX5 JUND ZNF580 ATF2 POLR2A ZNF10 BRCA1 HSALNG0139774 UBE2A lnc-UBE2A-1 STEEP1 EEF1A1P30 NKRF
GH0XJ119674 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.4 +110.2 110175 20.2 BCLAF1 SP1 ZNF654 IKZF1 MYC NCOR1 ZNF600 JUND ZNF580 ZNF592 SEPTIN6 EEF1A1P30 NKAPP1 NKRF MIR766 STEEP1 CUL4B SLC25A5-AS1 NKAP PGRMC1
GH0XJ119745 Enhancer 0.6 Ensembl 11.8 +172.5 172465 2.8 PRDM6 EGR1 TCF12 ZNF398 DPF2 ARID1B SMARCE1 ATF3 CBFA2T2 CBFA2T3 MIR766 UBE2A UPF3B piR-50406 SOWAHD HSALNG0139785 lnc-SEPT6-1 SEPTIN6
GH0XJ119550 Enhancer 0.5 Ensembl ENCODE 12.9 -23.9 -23936 2 JUNB RELB STEEP1 NKRF UBE2A RF00017-8029 lnc-NKRF-2 HSALNG0139773 RF00017-8027 SLC25A5
GH0XJ119625 Enhancer 0.4 Ensembl 12.5 +51.0 51041 2.4 NR2C1 SPI1 PRDM4 HSALNG0139781 piR-60051-114 MIR766 UBE2A SOWAHD lnc-NKRF-1 NKRF SEPTIN6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBE2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBE2A

Top Transcription factor binding sites by QIAGEN in the UBE2A gene promoter:
  • aMEF-2
  • AP-2alpha
  • FOXJ2 (long isoform)
  • GATA-3
  • MEF-2
  • MEF-2A

Genomic Locations for UBE2A Gene

Latest Assembly
chrX:119,574,536-119,591,083
(GRCh38/hg38)
Size:
16,548 bases
Orientation:
Plus strand

Previous Assembly
chrX:118,708,526-118,718,386
(GRCh37/hg19 by Entrez Gene)
Size:
9,861 bases
Orientation:
Plus strand

chrX:118,708,501-118,718,381
(GRCh37/hg19 by Ensembl)
Size:
9,881 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 (PubMed:21329877). Interacts with RFPL4A and CCNB1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for UBE2A Gene

    Alternative splice isoforms for UBE2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE2A Gene

Selected DME Specific Peptides for UBE2A Gene

P49459:
  • SKMFHPN
  • TPFEDGTF
  • RLMRDFKRLQ
  • MFHPNVY
  • AAQLYQEN
  • WNAVIFGP
  • YPNKPPTV
  • ARRRLMRDFKR
  • LTSIQSLL
  • CLDILQN
  • GPEGTPFE
  • GVSGAPSENNIM
  • PNPNSPAN

Post-translational modifications for UBE2A Gene

  • Phosphorylation at Ser-120 by CDK9 increases activity towards histone H2B.
  • Ubiquitination at Lys75
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for UBE2A
  • Boster Bio Antibodies for UBE2A

Domains & Families for UBE2A Gene

Gene Families for UBE2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for UBE2A Gene

InterPro:
Blocks:
  • Ubiquitin-conjugating enzymes

Suggested Antigen Peptide Sequences for UBE2A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50812, highly similar to Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 2, mRNA (A6NGR2_HUMAN)
  • Ubiquitin-conjugating enzyme (Q8WXB3_HUMAN)
  • Ubiquitin-protein ligase A (UBE2A_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.23; Evidence={ECO:0000255|PROSITE-ProRule:PRU00388, ECO:0000255|PROSITE-ProRule:PRU10133, ECO:0000269|PubMed:20061386};.
GENATLAS Biochemistry:
ubiquitin conjugating enzyme E2A,involved in post replication repair

Enzyme Numbers (IUBMB) for UBE2A Gene

Phenotypes From GWAS Catalog for UBE2A Gene

Gene Ontology (GO) - Molecular Function for UBE2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004842 ubiquitin-protein transferase activity IDA 11953320
GO:0005515 protein binding IPI 19549727
GO:0005524 ATP binding IEA --
GO:0016740 transferase 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:
  • Ube2a Ube2a<tm1Agr>
  • Ube2a Ube2a<tm1.1(KOMP)Vlcg>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2A

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

Localization for UBE2A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBE2A gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBE2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISS --
GO:0001741 XY body IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0033503 HULC complex IBA,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

Pathways by source for UBE2A Gene

3 Qiagen pathways for UBE2A Gene
  • Remodeling of Adherens Junctions
  • SOCS Pathway
  • Ubiquitin-Proteasome Dependent Proteolysis
1 Cell Signaling Technology pathway for UBE2A Gene

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:0001701 in utero embryonic development IEA --
GO:0001835 blastocyst hatching IEA --
GO:0006281 DNA repair IBA,IGI 1717990
GO:0006301 postreplication repair NAS 1559696
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, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with UBE2A: view

Transcripts for UBE2A Gene

mRNA/cDNA for UBE2A Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2A

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

Expression for UBE2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UBE2A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBE2A

SOURCE GeneReport for Unigene cluster for UBE2A Gene:

Hs.379466

Evidence on tissue expression from TISSUES for UBE2A Gene

  • Nervous system(4.9)
  • Skin(4.4)
  • Intestine(2.4)
  • Kidney(2.4)
  • Lung(2.4)
  • Muscle(2.2)
  • Heart(2.2)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • scalp
  • skull
Thorax:
  • breast
Pelvis:
  • penis
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with UBE2A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
Oppossum
(Monodelphis domestica)
Mammalia UBE2A 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia UBE2A 29 30
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBE2A 29 30
  • 95.61 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ube2a 29 16 30
  • 93.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ube2a 29
  • 93.2 (n)
Cow
(Bos Taurus)
Mammalia UBE2A 30
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UBE2A 30
  • 92 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UBE2A 29 30
  • 89.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBE2A 30
  • 100 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ube2a 29
  • 83.99 (n)
Str.6805 29
Zebrafish
(Danio rerio)
Actinopterygii ube2a 29 30
  • 81.58 (n)
OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta UbcD6 30 31
  • 88 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ubc-1 29 30 31
  • 69.57 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD6 30
  • 61 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons UBC1 29
  • 71.14 (n)
Soybean
(Glycine max)
eudicotyledons Gma.3735 29
Rice
(Oryza sativa)
Liliopsida Os07g0166800 29
  • 71.14 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6239 30
  • 82 (a)
OneToMany
Species where no ortholog for UBE2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UBE2A: view image
Alliance of Genome Resources:
Additional Orthologs for UBE2A

Paralogs for UBE2A Gene

Variants for UBE2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBE2A Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1040593 Uncertain Significance: not provided 119,582,620(+) CT/C
NM_003336.4(UBE2A):c.276del (p.Gln93fs)
FRAMESHIFT
915472 Uncertain Significance: Syndromic mental retardation, Nascimento type, X-linked 119,582,641(+) A/G
NM_003336.4(UBE2A):c.295A>G (p.Thr99Ala)
MISSENSE
915473 Likely Pathogenic: Syndromic mental retardation, Nascimento type, X-linked 119,582,644(+) TATG/T
NC_000023.11:g.119582645_119582647ATG[1]
INFRAME_DELETION
915474 Likely Pathogenic: Syndromic mental retardation, Nascimento type, X-linked 119,582,581(+) TTCTTAG/T
NM_003336.4(UBE2A):c.242-3_244del
SPLICE_ACCEPTOR
915475 Uncertain Significance: Syndromic mental retardation, Nascimento type, X-linked 119,581,539(+) G/A
NM_003336.4(UBE2A):c.184G>A (p.Glu62Lys)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UBE2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for UBE2A Gene

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

Additional Variant Information for UBE2A Gene

Human Gene Mutation Database (HGMD)
UBE2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE2A
Leiden Open Variation Database (LOVD)
UBE2A

SNP Genotyping and Copy Number Assays for research

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: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. (PMID: 16909393) Nascimento RM … Vianna-Morgante AM (American journal of human genetics 2006) 3 4 72
  2. 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 MH … Hoeijmakers JH (Genomics 1992) 2 3 22
  3. Phosphorylation by cyclin-dependent kinase-9 controls ubiquitin-conjugating enzyme-2A function. (PMID: 22592529) Shchebet A … Johnsen SA (Cell cycle (Georgetown, Tex.) 2012) 3 4
  4. WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription. (PMID: 21329877) Zhang F … Yu X (Molecular cell 2011) 3 4
  5. The E2 ubiquitin-conjugating enzymes direct polyubiquitination to preferred lysines. (PMID: 20061386) David Y … Navon A (The Journal of biological chemistry 2010) 3 4

Products for UBE2A Gene

Sources for UBE2A Gene