Gene Gene information from NCBI Gene database.
Entrez ID 7319
Gene name Ubiquitin conjugating enzyme E2 A
Gene symbol UBE2A
Synonyms (NCBI Gene)
HHR6AMRXS30MRXSNRAD6AUBC2
Chromosome X
Chromosome location Xq24
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 e
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs104894952 C>T Pathogenic Coding sequence variant, stop gained
rs387906728 G>A Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs1057524693 G>A Likely-pathogenic Splice acceptor variant
rs1556235119 A>G Likely-pathogenic Initiator codon variant, missense variant, 5 prime UTR variant
rs1556235551 G>A Pathogenic, not-provided Missense variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
363
miRTarBase ID miRNA Experiments Reference
MIRT051916 hsa-let-7b-5p CLASH 23622248
MIRT050167 hsa-miR-26a-5p CLASH 23622248
MIRT037559 hsa-miR-744-5p CLASH 23622248
MIRT036410 hsa-miR-1226-3p CLASH 23622248
MIRT513632 hsa-miR-101-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IDA 11953320
GO:0000166 Function Nucleotide binding IEA
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination TAS
GO:0000785 Component Chromatin ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
312180 12472 ENSG00000077721
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49459
Protein name Ubiquitin-conjugating enzyme E2 A (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme A) (RAD6 homolog A) (HR6A) (hHR6A) (Ubiquitin carrier protein A) (Ubiquitin-protein ligase A)
Protein function E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase (PubMed:16337599, PubMed:20061386, PubMed:23685073, PubMed:25582440, PubMed:38297121). In vitro cata
PDB 6CYO , 6CYR , 8BTL , 8IEJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 8 145 Ubiquitin-conjugating enzyme Domain
Sequence
Sequence length 152
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Synthesis of active ubiquitin: roles of E1 and E2 enzymes
E3 ubiquitin ligases ubiquitinate target proteins
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic rs2053457413 RCV005626339
Neurodevelopmental delay Likely pathogenic rs2147373019 RCV002274387
Nonpapillary renal cell carcinoma Pathogenic rs2520620698, rs1556235612 RCV005933658
RCV005901201
Syndromic X-linked intellectual disability Nascimento type Likely pathogenic; Pathogenic rs2147382084, rs104894952, rs2520659812, rs2520655961, rs2520620698, rs387906728, rs1556235551, rs1556244406, rs1603308066, rs2053457413, rs2053456972, rs2053457643 RCV001808185
RCV000010600
RCV003313753
RCV003984942
RCV004595116
RCV000022886
RCV000499961
RCV000677425
RCV000990932
RCV001257326
RCV001257327
RCV001254171
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
UBE2A-related disorder Benign; Likely benign rs61757566, rs764875570 RCV003937618
RCV003952228
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 30179896
Ataxia Associate 30179896
Autistic Disorder Associate 23471985
Body Dysmorphic Disorders Associate 33673493
Bone Marrow Diseases Associate 36215154
Disorders of Sex Development Associate 30179896
Granulosis Rubra Nasi Associate 24053514
Growth Disorders Associate 30179896
Heart Defects Congenital Associate 33673493
Hirsutism Associate 30179896