• Gene id: 84617

Gene Summary

• Gene Symbol: TUBB6   Gene   UCSC   Ensembl
• Aliases: FPVEPD, HsT1601, TUBB-5
• Gene name: tubulin beta 6 class V
• Alternate names: tubulin beta-6 chain, class V beta-tubulin, tubulin beta MGC4083, tubulin beta class V, tubulin, beta 6,
• Gene location: 18p11.21 (12307668: 12329825)     Exons: 7     NC_000018.10
• OMIM: 612524

Protein Summary

• Protein general information: Q9BUF5  
  • Name: Tubulin beta 6 chain (Tubulin beta class V)
  • Length: 446  
  • Mass: 49857
  • Tissue specificity: Ubiquitous. Maximal expression in breast and lung, where it represents around 10% of all beta-tubulins. Largely decreased expression in most cancerous tissues. {ECO
• Sequence:

  MREIVHIQAGQCGNQIGTKFWEVISDEHGIDPAGGYVGDSALQLERINVYYNESSSQKYVPRAALVDLEPGTMDS
  VRSGPFGQLFRPDNFIFGQTGAGNNWAKGHYTEGAELVDAVLDVVRKECEHCDCLQGFQLTHSLGGGTGSGMGTL
  LISKIREEFPDRIMNTFSVMPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDL
  NHLVSATMSGVTTSLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDARNMM
  AACDPRHGRYLTVATVFRGPMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMASTFIGNSTAIQ
  ELFKRISEQFSAMFRRKAFLHWFTGEGMDEMEFTEAESNMNDLVSEYQQYQDATANDGEEAFEDEEEEIDG

• Structural information:
  • Interpro: IPR013838  IPR002453  IPR008280  IPR000217  IPR018316   IPR037103  IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227 PS00228
  • STRING: ENSP00000318697
• Other Databases: GeneCards:  TUBB6  Malacards:  TUBB6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007017	microtubule-based process	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0005874	microtubule	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005200	structural constituent of cytoskeleton	IBA	molecular function
GO:0000226	microtubule cytoskeleton organization	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:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
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:0005634	nucleus	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function
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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R