| Type | Description |
|---|---|
| Definition | tubulin beta 2A class IIa |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:24:00 | De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. | 32203252 |
| 2019-12-14 11:30:00 | The results suggest that betaII-tubulin may facilitate cancer growth and metastasis and, to accomplish this, may not need to be in microtubule form. | 30621030 |
| 2019-02-16 12:04:00 | Consistent with the differential clinical and structural impact, TUBB2AA248V does not drastically affect TUBB2A binding to KIF1A, nor mitotic spindle bipolarity. Overall, our data demonstrate a pathogenic role of the p.D417N substitution that is different from previously reported TUBB2A mutations and expand the phenotypic spectrum associated with mutations in this gene. | 29547997 |
| 2018-02-10 12:08:00 | TUBB2A missense mutation is associated with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. | 28840640 |
| 2014-05-31 11:25:00 | study associates mutations in TUBB2A with the spectrum of "tubulinopathy" phenotypes | 24702957 |
| Type | IDs |
|---|---|
| Synonymous | CDCBM5, TUBB, TUBB2 |
| Gene |
UniProtKB-ID:
TBB2A_HUMAN
UniprotKB:
Q13885
UniParc:
UPI000000DC98
EMBL:
AL031963,
X79535,
BC018780,
BC001194,
CR541958,
AY159127
Ensembl:
ENSG00000137267
KO:
hsa:7280
|
| Nucleutide sequences |
EMBL-CDS:
CAA56071.1,
AAH18780.1,
AAN85571.1,
CAG46756.1,
AAH01194.1
Ensembl_TRS:
ENST00000333628
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000369703
RefSeq:
NP_001060.1,
NP_001297244.1
|
| Others |
UniRef100:
UniRef100_Q13885
UniRef90:
UniRef90_Q13885
UniRef50:
UniRef50_Q13885
UniGene:
Hs.654543
CCDS:
CCDS4484.1
|