• Gene id: 347733

Gene Summary

• Gene Symbol: TUBB2B   Gene   UCSC   Ensembl
• Aliases: CDCBM7, PMGYSA, bA506K6.1
• Gene name: tubulin beta 2B class IIb
• Alternate names: tubulin beta-2B chain, class II beta-tubulin isotype, class IIb beta-tubulin, tubulin, beta 2B, tubulin, beta polypeptide paralog,
• Gene location: 6p25.2 (3227733: 3224260)     Exons: 4     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq,
• OMIM: 612850

Protein Summary

• Protein general information: Q9BVA1  
  • Name: Tubulin beta 2B chain
  • Length: 445  
  • Mass: 49,953
• Sequence:

  MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQLERINVYYNEATGNKYVPRAILVDLEPGTMDS
  VRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKESESCDCLQGFQLTHSLGGGTGSGMGTL
  LISKIREEYPDRIMNTFSVMPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDL
  NHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDSKNMM
  AACDPRHGRYLTVAAIFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMSATFIGNSTAIQ
  ELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATADEQGEFEEEEGEDEA

• Structural information:
  • Interpro: IPR013838  IPR002453  IPR008280  IPR000217  IPR018316   IPR037103  IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227 PS00228
  • STRING: ENSP00000259818
• Other Databases: GeneCards:  TUBB2B  Malacards:  TUBB2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001764	neuron migration	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0007017	microtubule-based process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0001764	neuron migration	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0007017	microtubule-based process	IEA	biological process
GO:0001764	neuron migration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005874	microtubule	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04145	Phagosome
hsa04540	Gap junction
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Polymicrogyria	KEGG: H00271
Asthenozoospermia	MIK: 25825237
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenozoospermia	MIK: 25825237
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25825237	Asthenozoospermia				Male infertility	Tubulin beta 2B; glutathione S-transferase Mu 3; keratin type II cytoskeletal 1; outer dense fiber protein 2; voltage-dependent anion-selective channel protein 2; A-kinase anchor protein 4; cytochrome c oxidase subunit 6B; sperm protein associated with t
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq