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7280 TUBB2A

7280

TUBB2A

tubulin beta 2A class IIa

protein-coding

Homo sapiens

基因描述

Type Description
Definition tubulin beta 2A class IIa

研究结论

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

名称对应

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

全选

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研究热度

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