Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7319
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin conjugating enzyme E2 A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBE2A
Synonyms (NCBI Gene) Gene synonyms aliases
HHR6A, MRXS30, MRXSN, RAD6A, UBC2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq24
Summary Summary of gene provided in NCBI Entrez 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 e
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
312180 12472 ENSG00000077721
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Syndromic X-linked intellectual disability Nascimento type rs104894952, rs387906728, rs1556235551, rs1556244406, rs1603308066 N/A
Associations from Text Mining Disease 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