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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UBE2A Gene

protein-coding   GIFtS: 69
GCID: GC0XP118708

Ubiquitin-Conjugating Enzyme E2A

(Previous name: ubiquitin-conjugating enzyme E2A (RAD6 homolog))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ubiquitin-Conjugating Enzyme E2A1 2     HHR6A2
RAD6A2 3 5     MRXS302
Ubiquitin Carrier Protein A2 3     MRXSN2
Ubiquitin-Protein Ligase A2 3     UBC22
RAD6 Homolog A2 3     Ubiquitin-Conjugating Enzyme E2 A2
EC 6.3.2.193 8     HR6A3
Ubiquitin-Conjugating Enzyme E2A (RAD6 Homolog)1     hHR6A3

External Ids:    HGNC: 124721   Entrez Gene: 73192   Ensembl: ENSG000000777217   OMIM: 3121805   UniProtKB: P494593   

Export aliases for UBE2A gene to outside databases

Previous GC identifers: GC0XP113526 GC0XP115694 GC0XP116683 GC0XP117462 GC0XP118490 GC0XP118592 GC0XP108201


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 E2A) is a protein-coding gene. Diseases associated with UBE2A include mental retardation, x-linked, syndromic, nascimento type, and esotropia, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation and Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is UBE2B.

UniProtKB/Swiss-Prot: UBE2A_HUMAN, P49459
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

Gene Wiki entry for UBE2A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011786.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBE2A gene promoter:
         MEF-2A   GATA-3   FOXJ2 (long isoform)   MEF-2   aMEF-2   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBE2A promoter sequence
   Search SABiosciences Chromatin IP Primers for UBE2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBE2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq24   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq24

UBE2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBE2A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP118708:  view genomic region     (about GC identifiers)

Start:
118,708,499 bp from pter      End:
118,718,381 bp from pter
Size:
9,883 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UBE2A_HUMAN, P49459 (See protein sequence)
Recommended Name: Ubiquitin-conjugating enzyme E2 A  
Size: 152 amino acids; 17315 Da
Subunit: Interacts with RAD18 and WAC
Secondary accessions: A6NFE9 A6NGR2 A6NMF5 B2R7R9 D3DWI1 Q4TTG1 Q96FX4
Alternative splicing: 3 isoforms:  P49459-1   P49459-2   P49459-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBE2A: NX_P49459

Explore proteomics data for UBE2A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49459

  • 4/13 DME Specific Peptides for UBE2A (P49459) (see all 13)
     SKMFHPN  CLDILQN  MFHPNVY  AAQLYQEN 

    UBE2A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBE2A Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001269090.1  NP_003327.2  NP_861427.1  NP_861442.1  

    ENSEMBL proteins: 
     ENSP00000360613   ENSP00000335027   ENSP00000360624  
    Reactome Protein details: P49459
    Human Recombinant Protein Products for UBE2A: 
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    Sino Biological Recombinant Protein for UBE2A
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    ProSpec Recombinant Protein for UBE2A
    Cloud-Clone Corp. Proteins for UBE2A 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin ISS--
    GO:0000790nuclear chromatin IEA--
    GO:0001741XY body IEA--
    GO:0005829cytosol TAS--
    GO:0033503HULC complex IDA19410543

    UBE2A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    UBE2: Ubiquitin-conjugating enzymes E2

    3 InterPro protein domains:
     IPR016135 UBQ-conjugating_enzyme/RWD
     IPR023313 UBQ-conjugating_AS
     IPR000608 UBQ-conjugat_E2

    Graphical View of Domain Structure for InterPro Entry P49459

    ProtoNet protein and cluster: P49459

    1 Blocks protein domain: IPB000608 Ubiquitin-conjugating enzymes

    UniProtKB/Swiss-Prot: UBE2A_HUMAN, P49459
    Similarity: Belongs to the ubiquitin-conjugating enzyme family


    UBE2A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBE2A_HUMAN, P49459
    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
    Catalytic activity: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine

         Genatlas biochemistry entry for UBE2A:
    ubiquitin conjugating enzyme E2A,involved in post replication repair

         Enzyme Number (IUBMB): EC 6.3.2.191 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA11953320
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0016881acid-amino acid ligase activity ----
    GO:0031625ubiquitin protein ligase binding IPI10908344
         
    UBE2A for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for UBE2A:
     Decreased influenza A virus in  Decreased viability with cispl  Synthetic lethal with cisplati 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ube2a):
     growth/size  mortality/aging  reproductive system 

    UBE2A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ube2atm1Agr for UBE2A

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBE2A 
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    SwitchGear 3'UTR luciferase reporter plasmidUBE2A 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UBE2A About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Ubiquitin mediated proteolysis0.36
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    4TGF-Beta Pathway
    SOCS Pathway0.40
    5Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
    Common schema of ubiquitination0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for UBE2A
        Common schema of ubiquitination

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for UBE2A
        Ubiquitin-Proteasome Dependent Proteolysis
    Remodeling of Adherens Junctions
    SOCS Pathway

    3 Cell Signaling Technology (CST) Pathways for UBE2A
        Cell Cycle / Checkpoint Control
    DNA Damage
    Protein Stability


    4        Reactome Pathways for UBE2A
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    1         Kegg Pathway  (Kegg details for UBE2A):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: UBE2A_HUMAN, P49459
    Pathway: Protein modification; protein ubiquitination


    UBE2A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBE2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/180 Interacting proteins for UBE2A (P494592, 3 ENSP000003606134) via UniProtKB, MINT, STRING, and/or I2D (see all 180)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRMP1Q141942, 3, ENSP000003216064MINT-8276053 I2D: score=3 STRING: ENSP00000321606
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination TAS--
    GO:0001701in utero embryonic development IEA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006281DNA repair IGI1717990
    GO:0006301postreplication repair NAS1559696

    UBE2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UBE2A

    4 HMDB Compounds for UBE2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    Search CenterWatch for drugs/clinical trials and news about UBE2A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UBE2A gene (4 alternative transcripts): 
    NM_001282161.1  NM_003336.3  NM_181762.2  NM_181777.1  

    Unigene Cluster for UBE2A:

    Ubiquitin-conjugating enzyme E2A
    Hs.379466  [show with all ESTs]
    Unigene Representative Sequence: BC042021
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371558(uc004erl.3 uc004erm.3) ENST00000346330 ENST00000469205
    ENST00000371569(uc004erp.3)
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    Additional mRNA sequence: 

    AK223045.1 AK223064.1 AK297696.1 AK301675.1 AK313092.1 BC010175.2 BC042021.1 D28459.1 
    M74524.1 

    19 DOTS entries:

    DT.452059  DT.92407072  DT.91959936  DT.100795889  DT.40121076  DT.75112169  DT.121299908  DT.121299914 
    DT.95324926  DT.100795884  DT.100795886  DT.100795888  DT.121299884  DT.121299910  DT.91813739  DT.97824937 
    DT.100758018  DT.91999652  DT.97791444 

    24/408 AceView cDNA sequences (see all 408):

    BE349961 AA373126 AA804394 AI300485 NM_181777 BU677995 BU176550 NM_181762 
    AA594270 AA663998 BQ775045 AL545489 CR595604 AI092957 CK822627 AW665283 
    BQ009191 AA436694 AA894459 AA877072 AI346703 AI200032 AA988010 AI673715 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for UBE2A (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for UBE2A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UBE2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGGACTTCA
    UBE2A Expression
    About this image


    See UBE2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBE2A

    SOURCE GeneReport for Unigene cluster: Hs.379466
        SABiosciences Expression via Pathway-Focused PCR Arrays including UBE2A: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UBE2A gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ube2a1 , 5 ubiquitin-conjugating enzyme E2A, RAD6 homolog (S. more5
    ubiquitin-conjugating enzyme E2A1
    93.42(n)1
    100(a)1
      X (21.28 cM)5
    222091  NM_019668.31  NP_062642.11 
     368743585 
    chicken
    (Gallus gallus)
    Aves UBE2A1 ubiquitin-conjugating enzyme E2A 89.04(n)
    100(a)
      395672  NM_204865.1  NP_990196.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBE2A6
    Uncharacterized protein
    100(a)
    1 ↔ 1
    GL344229.1(56282-60321)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059970.12   -- 82.03(n)    BC059970.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC053256.12   -- 81.91(n)   368430  BC053256.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta UbcD61 , 3 DNA repair ubiquitin conjugating enzyme3
    Ubiquitin conjugating enzyme1
    87(a)3
    70.2(n)1
    88.08(a)1
      82E43
    406101  NM_079506.31  NP_524230.21 
    worm
    (Caenorhabditis elegans)
    Secernentea ubc-11 , 3 ubiquitin conjugating-protein3
    Protein UBC-11
    85(a)3
    69.57(n)1
    85.91(a)1
      IV(4103222-4105426)3
    1771701  NM_068079.41  NP_500480.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD66
    Ubiquitin-conjugating enzyme (E2), involved in pos...
    61(a)
    1 → many
    VII(393986-394504)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UBC31 ubiquitin-conjugating enzyme E2 3 65.1(n)
    73.15(a)
      836374  NM_125648.3  NP_568956.1 
    rice
    (Oryza sativa)
    Liliopsida AK070524.12   -- 73.65(n)    AK070524.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBE2A gene
    UBE2B2  UBE2S2  UBE2U2  
    18/30 SIMAP similar genes for UBE2A using alignment to 1 protein entry:     UBE2A_HUMAN(see all similar genes):
    HR6A    UBE2B    UBE2D2    UBE2D3    UBE2D4    UBE2D1
    UBE2M    UBE2N    UBE2C    UBE2E2    UBE2NL    UBE2E3
    UBE2L3    UBE2G2    UBE2H    UBE2E1    UBE2U    UBE2L6

    UBE2A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/186 SNPs in UBE2A are shown (see all 186)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666284
    Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN)4--see VAR_0666282 G R mis40--------
    VAR_0666274
    Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN)4--see VAR_0666272 R Q mis40--------
    rs1048949521,2
    Cpathogenic1118713306(+) CTGCTC/TAGCTG 6 Q * stg10--------
    rs1872086681,2
    --118702763(+) AAATTA/CTCTGT 2 -- us2k10--------
    rs1469299061,2
    --118702797(+) GCCACC/TTGGCA 2 -- us2k10--------
    rs1475728841,2
    --118702814(+) GCAGGC/TGGCCT 2 -- us2k10--------
    rs1920034821,2
    C--118702987(+) TGTGTG/TTATGT 2 -- us2k10--------
    rs1420465821,2
    C--118703008(+) AGACTG/TCAAGT 2 -- us2k10--------
    rs1836353231,2
    --118703047(+) TTTTTA/TAATTT 2 -- us2k10--------
    rs1869790431,2
    --118703166(+) TGTTGG/TTAAGC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for UBE2A (118708499 - 118718381 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UBE2A: --

    Human Gene Mutation Database (HGMD): UBE2A

    Locus Specific Mutation Databases (LSDB): UBE2A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 312180    OMIM disorders: --

    UniProtKB/Swiss-Prot: UBE2A_HUMAN, P49459
  • Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860]: A disorder characterized
    by significantly below average general intellectual functioning associated with impairments in adaptative
    behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism,
    skin and nails abnormalities, obesity, speech anomalies and seizures. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for UBE2A:    About MalaCards
    mental retardation, x-linked, syndromic, nascimento type    esotropia    intellectual disability    mental retardation, x-linked
    fanconi's anemia    mental retardation    anemia    obesity


    UBE2A for disorders           About GeneDecksing


    Export disorders for UBE2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UBE2A gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with UBE2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31. (PubMed id 1559696)1, 3, 9 Koken M.H....Hoeijmakers J.H. (1992)
    2. Novel missense mutations in the ubiquitination-relate d gene UBE2A cause a recognizable X-linked mental retardation syndrome. (PubMed id 20412111)1, 2 Budny B....Ropers H.H. (2010)
    3. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. (PubMed id 16909393)1, 2 Nascimento R.M....Vianna-Morgante A.M. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6. (PubMed id 1717990)1, 2 Koken M.H.M.... Hoeijmakers J.H.J. (1991)
    6. Regulation of the ubiquitin-conjugating enzyme hHR6A by CDK-mediated phosphorylation. (PubMed id 11953320)1, 9 Sarcevic B....Sutherland R.L. (2002)
    7. The human RAD18 gene product interacts with HHR6A and HHR6B. (PubMed id 10908344)1, 9 Xin H.... Wang Z. (2000)
    8. RNF168 forms a functional complex with RAD6 during the DNA damage response. (PubMed id 23525009)1 Liu C....Yu X. (2013)
    9. Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. (PubMed id 23471985)1 Jahanshad N....Thompson P.M. (2013)
    10. Mutations in the intellectual disability gene Ube2a ca use neuronal dysfunction and impair parkin-dependent mitophagy. (PubMed id 23685073)1 Haddad D.M....Verstreken P. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7319 HGNC: 12472 AceView: UBE2A Ensembl:ENSG00000077721 euGenes: HUgn7319
    ECgene: UBE2A Kegg: 7319 H-InvDB: UBE2A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UBE2A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UBE2A Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ube2a/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UBE2A gene:
    Search GeneIP for patents involving UBE2A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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