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FLASH GENE
Symbol UBE2A contributors: mct/npt/pgu - updated : 10-10-2017
HGNC name ubiquitin-conjugating enzyme E2A (RAD6 homolog)
HGNC id 12472
Corresponding disease
DELXQM chromosome Xq deletions in males
MRXS30 mental retardation, syndromic 30, Nascimento-type
Location Xq24      Physical location : 118.708.498 - 118.718.377
Synonym name ubiquitin carrier protein A
Synonym symbol(s) UBC2, HHR6A, RAD6A, MRXS30, MRXSN
EC.number 6.3.2.19/ 2.3.2.23
DNA
TYPE functioning gene
STRUCTURE 9.96 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
DKFZp686L20145 Xq24 similar to rab11-binding protein LOC389882 X LOC389882 DOCK11 Xq24 dedicator of cytokinesis 11 IL13RA1 Xq22-q26 interleukin 13 receptor, alpha 1 LOC170261 Xq24 hypothetical protein LOC170261 LOC159007 Xq24 similar to Aflatoxin B1 aldehyde reductase member 2 (AFB1-AR 1) (Aldoketoreductase 7) LOC392529 X hypothetical gene supported by NM_015198 RNF127 Xq24 ring finger protein 127 KIAA1210 Xq24 KIAA1210 protein LOC389883 X similar to Hnrpa1 protein PGRMC1 Xq22-q24 progesterone receptor membrane component 1 LOC139516 Xq24 similar to DNA segment on chromosome X and Y (unique) 155 expressed sequence; Pseudoautosomal gene XE7 (Y chromosome) MRPS17P9 Xq24 similar to DNA segment on chromosome X and Y (unique) 155 expressed sequence; Pseudoautosomal gene XE7 (Y chromosome) LOC203427 Xq24 similar to solute carrier family 25 , member 16 SLC25A5 Xq24-q26 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 FLJ22965 Xq23 hypothetical protein FLJ22965 UBE2A Xq24-q25 ubiquitin-conjugating enzyme E2A (RAD6 homolog) NRF Xq24-q25 ubiquitin-conjugating enzyme E2A (RAD6 homolog) SEPT6 Xq24 ubiquitin-conjugating enzyme E2A (RAD6 homolog) LOC347454 Xq25 similar to hypothetical protein A630014H24 RPL39 Xq22.1-q22.2 ribosomal protein L39 LOC158796 Xq25 similar to UPF3 regulator of nonsense transcripts homolog B isoform 2 UPF3B Xq25-q26 UPF3 regulator of nonsense transcripts homolog B (yeast) ZNF183 Xq24-q25 zinc finger protein 183 (RING finger, C3HC4 type) NDUFA1 Xq24 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa AKAP28 Xq25 A-kinase anchor protein 28 NKAP Xq25 NF-kappaB activating protein OTEX Xq25 paired-like homeobox protein OTEX LOC392530 X similar to hypothetical protein FLJ22626 PEPP-2 Xq25 PEPP subfamily gene 2 LOC340576 Xq25 similar to eukaryotic translation elongation factor 1 alpha 1; CTCL tumor antigen; translation elongation factor 1 alpha 1-like 14; prostate tumor-inducing protein 1; EF1a-like protein; glucocorticoid receptor AF-1 specific elongati FLJ36576 Xq25 hypothetical protein FLJ36576 ZNF-kaiso Xq23 kaiso FLJ20716 Xq25 hypothetical protein FLJ20716 ATP1B4 Xq24 ATPase, (Na+)/K+ transporting, beta 4 polypeptide LAMP2 Xq24 lysosomal-associated membrane protein 2 RNU7P1 Xq25 RNA, U7 small nuclear pseudogene 1 RNU7P2 Xq25 RNA, U7 small nuclear pseudogene 2 CUL4B Xq23 cullin 4B MCTS1 Xq22-24 malignant T cell amplified sequence 1 C1GALT2 Xq25 core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 2 LOC392531 X similar to RIKEN cDNA 2900070E19
RNA
TRANSCRIPTS type
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1799 17 152 - 2003 12776193
5 - 1709 13.6 122 - 2003 12776193
  • lacking an in-frame coding exon
  • isoform 2 lacks an internal segment
  • 6 - 1871 - 119 - 2003 12776193
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     intestinesmall intestine  highly
    Reproductivefemale systemplacenta  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a conserved UBC domain of 150AA harboring the cysteine residue required for enzyme-ubiquitin thioester formation
  • HOMOLOGY
    interspecies homolog to yeast RAD6 post replication repair epistatic group,A
    ortholog to S. cerevisiae RAD6/UBC2
    Homologene
    FAMILY
  • ubiquitin-conjugating enzyme family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • ubiquitin conjugating enzyme E2A, involved in post replication repair of UV-damaged DNA
  • role for UBE2A and HIST2H2BE ubiquitylation during the elongation cycle of transcription, suggesting a mechanism by which H3 methylation may be regulated
  • catalyzing the covalent attachment of ubiquitin to other proteins
  • serves as the cognate E2-conjugating enzyme
  • involved in transcription-coupled HIST2H2BE ubiquitylation and directly stimulates H3K4 methylation in human cells
  • plays a critical role in regulating TP53 protein levels under both normal and stress conditions
  • UBE2A, UBE2B regulates TP53 levels in a "yin-yang" manner through a combination of two distinct mechanisms in mammalian cells
  • RNF168, in complex with UBE2A or UBE2B, is activated in the DNA-damage-induced protein ubiquitination cascade
  • function in cell cycle progression and cell proliferation in human cells
  • UBE2A-MDM2 ubiquitin ligase machinery is critical for the degradation of chromatin-related proteins
  • E2 ubiquitin-conjugating enzyme involved in DNA repair and female fertility
  • CELLULAR PROCESS cell cycle
    nucleotide, repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • UBE2A, UBE2B can form a ternary complex with MDM2 and TP53 that contributes to the degradation of TP53
  • RNF168, in complex with UBE2A or UBE2B, is activated in the DNA-damage-induced protein ubiquitination cascade
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • UBE2B, RAD18
  • through direct interaction with RNF20, is recruited to transcribed genes and ubiquitylates chromatinized HIST2H2BE at lysine 120
  • RNF168, in complex with UBE2A or UBE2B, is activated in the DNA-damage-induced protein ubiquitination cascade
  • UBE2A is a regulator of PRKN-dependent mitophagy suggesting a critical role for UBE2A in maintaining neuronal function
  • critical target gene of AR in Sertoli cells, mediating the function of AR in spermatogenesis by promoting H2A ubiquitylation
  • physically interacts with CBX5 and ubiquitinates CBX5 at residue K154, thereby promoting CBX5 degradation through the autophagy pathway and eventually leading to an open chromatin structure that facilitates efficient HR DSB repair
  • promotes the G1-S transition and cell proliferation by regulating the expression of CCND1 in human cells
  • binds to the E3 ligase Parkin, which is required for mitochondrial function and responsible for juvenile Parkinson disease
  • WDR76 is involved in preserving genome stability, and depends on the E2-ubiquitin-conjugating enzyme UBE2A and the E3-ubiquitin ligase RNF20
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRXS30 , DELXQM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ube2a knockout mice have a major deficit in spatial learning tasks, whereas other tested phenotypes, including epilepsy and motor coordination, were normal