|
Gene id |
7319 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
UBE2A Gene UCSC Ensembl |
|
Aliases |
HHR6A, MRXS30, MRXSN, RAD6A, UBC2 |
|
Gene name |
ubiquitin conjugating enzyme E2 A |
|
Alternate names |
ubiquitin-conjugating enzyme E2 A, E2 ubiquitin-conjugating enzyme A, RAD6 homolog A, ubiquitin carrier protein A, ubiquitin-conjugating enzyme E2A, ubiquitin-protein ligase A, |
|
Gene location |
Xq24 (119574562: 119584422) Exons: 6 NC_000023.11
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
312180 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04120 | Ubiquitin mediated proteolysis | |
|
| Associated diseases |
References |
| Spermatogenesis defects | MIK: 8575614 |
| Syndromic X-linked mental retardation | KEGG: H00658 |
| Role in spermatogenesis | MIK: 8575614 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 8575614 |
Role in sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|