UBE2A
Ubiquitin Conjugating Enzyme E2 A
Gene Information Card
| Symbol | UBE2A |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 A |
| Gene Type | Protein coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 7319 ncbi.nlm.nih.gov/gene/7319 |
| Ensembl ID | ENSG00000177731 |
| UniProt ID | P49459 |
| OMIM ID | 312180 |
| HGNC ID | 12472 |
| Aliases | HHR6A, RAD6A, UBC2, UBE2A1 |
Description
The UBE2A gene encodes a member of the ubiquitin-conjugating enzyme (E2) family. This enzyme is involved in post-replication repair and is essential for ubiquitin-mediated protein degradation. UBE2A catalyzes the second step of ubiquitination, transferring ubiquitin from the E1 enzyme to specific E3 ligases. Mutations in UBE2A cause X-linked intellectual disability (XLID) type Nascimento, characterized by developmental delay, dysmorphic features, and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability, Nascimento type | Loss-of-function mutations in UBE2A impair ubiquitination pathways critical for neuronal development and synaptic function. | ClinVar, OMIM |
| UBE2A deficiency syndrome | Hemizygous missense or nonsense mutations lead to reduced enzyme activity and disrupted protein homeostasis. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain | 25.1 | Medium |
| Heart | 18.7 | Medium |
| Liver | 12.4 | Low |
| Kidney | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 42.5 | High expression |
| HeLa | 35.8 | High expression |
| K562 | 28.1 | Medium expression |
| HepG2 | 22.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236G>A (p.Trp79*) | Nonsense | Rare | Loss of function; premature stop codon leads to truncated protein |
| c.347T>C (p.Leu116Pro) | Missense | Rare | Loss of function; disrupts protein folding and ubiquitin binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; abolishes translation initiation |
Mutation functional classification
Loss of Function (LOF)
Most UBE2A mutations are loss-of-function, leading to reduced ubiquitin-conjugating activity and impaired protein degradation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for UBE2A.
Dominant Negative (DN)
No dominant-negative mutations have been described for UBE2A.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin conjugating enzyme activity | • protein ubiquitination |
| • post-replication repair | • DNA repair |
| • ubiquitin-dependent protein catabolic process |
Pathways
• Ubiquitin mediated proteolysis
• DNA repair
Protein Summary
UBE2A (RAD6A) is a 152-amino acid ubiquitin-conjugating enzyme that forms a thioester bond with ubiquitin. It interacts with various E3 ligases to target substrates for proteasomal degradation or non-proteolytic signaling. The protein is highly conserved and expressed in multiple tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2A Knockout HEK293T Cell Line | EDJ-KQ02 | Human | 7319 | Details Get a Quote |
| UBE2A Knockout HEK293 Cell Line | EDJ-KQ5256 | Human | 7319 | Details Get a Quote |
| UBE2A Knockout A-549 Cell Line | EDJ-KQ29569 | Human | 7319 | Details Get a Quote |
| UBE2A Knockout HCT 116 Cell Line | EDJ-KQ29571 | Human | 7319 | Details Get a Quote |
| UBE2A Knockout HeLa Cell Line | EDJ-KQ29572 | Human | 7319 | Details Get a Quote |
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