• Gene id: 7280

Gene Summary

• Gene Symbol: TUBB2A   Gene   UCSC   Ensembl
• Aliases: CDCBM5, TUBB, TUBB2
• Gene name: tubulin beta 2A class IIa
• Alternate names: tubulin beta-2A chain, class IIa beta-tubulin, tubulin, beta 2A, tubulin, beta polypeptide 2,
• Gene location: 6p25.2 (3157543: 3153665)     Exons: 4     NC_000006.12
• Gene summary(Entrez): Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortica
• OMIM: 615101

Protein Summary

• Protein general information: Q13885  
  • Name: Tubulin beta 2A chain (Tubulin beta class IIa)
  • Length: 445  
  • Mass: 49907
  • Tissue specificity: High expression in brain, where it represents 30% of all beta-tubulins. {ECO
• Sequence:

  MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQLERINVYYNEAAGNKYVPRAILVDLEPGTMDS
  VRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKESESCDCLQGFQLTHSLGGGTGSGMGTL
  LISKIREEYPDRIMNTFSVMPSPKVSDTVVEPYNATLSVHQLVENTDETYSIDNEALYDICFRTLKLTTPTYGDL
  NHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDSKNMM
  AACDPRHGRYLTVAAIFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMSATFIGNSTAIQ
  ELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATADEQGEFEEEEGEDEA

• Structural information:
  • Interpro: IPR013838  IPR002453  IPR008280  IPR000217  IPR018316   IPR037103  IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227 PS00228
  • STRING: ENSP00000369703
• Other Databases: GeneCards:  TUBB2A  Malacards:  TUBB2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0005200	structural constituent of cytoskeleton	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005874	microtubule	IBA	cellular component
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0001764	neuron migration	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0007017	microtubule-based process	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007017	microtubule-based process	IEA	biological process
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05130	Pathogenic Escherichia coli infection
hsa04145	Phagosome
hsa04540	Gap junction

Diseases

Associated diseases	References
Complex cortical dysplasia with other brain malformations	KEGG:H01881
Complex cortical dysplasia with other brain malformations	KEGG:H01881
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881