| Type | Description |
|---|---|
| Definition | ubiquitin conjugating enzyme E2 A |
| Date | Results | Publications |
|---|---|---|
| 2020-09-19 16:27:00 | Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss. | 32485717 |
| 2020-08-01 10:56:00 | UBE2A mutations that are recurrently acquired during chronic myeloid leukemia progression interfere with myeloid differentiation pathways | 30819912 |
| 2020-07-11 11:13:00 | These variants constitute the majority of the RAD6B transcriptome in contrast to RAD6A, which was predominantly wild-type. The expression of functional RAD6B variants only in melanomas reveals RAD6B's molecular heterogeneity and its association with melanoma pathogenesis. | 31683936 |
| 2019-05-11 10:56:00 | UBE2A Q93E mutation, which was identified in two brothers with mild intellectual disability, perturbs the UBE2A catalytic microenvironment essential for lysine deprotonation during ubiquitin transfer, thus generating an enzyme that is disabled but not dead. | 30531907 |
| 2019-03-02 12:07:00 | As confirmed by deep sequencing, the c.330G>A substitution in UBE2A was undetectable in genomic DNA from maternal blood cells, suggesting that the recurrent UBE2A deficiency observed in males of this family is caused by a maternal germline mosaicism. | 29283210 |
| Type | IDs |
|---|---|
| Synonymous | HHR6A, MRXS30, MRXSN, RAD6A, UBC2 |
| Gene |
UniProtKB-ID:
UBE2A_HUMAN,
A0A0D9SG71_HUMAN
UniprotKB:
P49459,
A0A0D9SG71
UniParc:
UPI00001B2F31,
UPI00000043A0,
UPI0000E0C707,
UPI00001B2F32
EMBL:
BC010175,
DQ068065,
CH471161,
AK313092,
M74524,
AK297696,
AC004913
Ensembl:
ENSG00000077721
KO:
hsa:7319
|
| Nucleutide sequences |
EMBL-CDS:
AAY46159.1,
AAH10175.1,
BAG35916.1,
EAW89862.1,
BAG60054.1,
EAW89861.1,
AAA35981.1,
EAW89863.1
Ensembl_TRS:
ENST00000371558,
ENST00000630695,
ENST00000625938,
ENST00000628549
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000486599,
ENSP00000486550,
ENSP00000360613,
ENSP00000487203
RefSeq:
NP_001269090.1,
NP_861427.1,
NP_003327.2
|
| Others |
UniRef100:
UniRef100_A0A0D9SG71,
UniRef100_P49459
UniRef90:
UniRef90_P49459,
UniRef90_A0A0D9SG71
UniRef50:
UniRef50_P49459,
UniRef50_A0A498LHT6
UniGene:
Hs.379466
CCDS:
CCDS14580.1,
CCDS14581.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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