Homo sapiens Protein: TUBB2A
Summary
InnateDB Protein IDBP-57524.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TUBB2A
Protein Name tubulin, beta 2A class IIa
Synonyms CDCBM5; dJ40E16.7; TUBB; TUBB2;
Species Homo sapiens
Ensembl Protein ENSP00000369703
InnateDB Gene IDBG-57522 (TUBB2A)
Protein Structure
UniProt Annotation
Function Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm, cytoskeleton {ECO:0000250}.
Disease Associations Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. {ECO:0000269PubMed:24702957}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity High expression in brain, where it represents 30% of all beta-tubulins. {ECO:0000269PubMed:20191564}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 101 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 101 [view]
Protein-Protein 101 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003924 GTPase activity
GO:0005200 structural constituent of cytoskeleton
GO:0005525 GTP binding
Biological Process
GO:0006184 GTP catabolic process
GO:0006457 protein folding
GO:0007017 microtubule-based process
GO:0044267 cellular protein metabolic process
GO:0051084 'de novo' posttranslational protein folding
GO:0051258 protein polymerization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005874 microtubule
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000217 Tubulin
IPR002452 Alpha tubulin
IPR002453 Beta tubulin
IPR002454 Gamma tubulin
IPR002967 Delta tubulin
IPR003008 Tubulin/FtsZ, GTPase domain
IPR004057 Epsilon tubulin
IPR008280 Tubulin/FtsZ, C-terminal
IPR018316 Tubulin/FtsZ, 2-layer sandwich domain
IPR019605 Misato Segment II tubulin-like domain
PFAM PF00091
PF03953
PF10644
PRINTS PR01161
PR01162
PR01163
PR01164
PR01224
PR01519
PIRSF
SMART SM00864
SM00865
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q13885
PhosphoSite PhosphoSite-Q13885
TrEMBL
UniProt Splice Variant
Entrez Gene 7280
UniGene Hs.731930
RefSeq NP_001060
HUGO HGNC:12412
OMIM 615101
CCDS CCDS4484
HPRD 01852
IMGT
EMBL AL031963 AY159127 BC001194 BC018780 CR541958 X79535
GenPept AAH01194 AAH18780 AAN85571 CAA56071 CAD70628 CAG46756