• Gene id: 347688

Gene Summary

• Gene Symbol: TUBB8   Gene   UCSC   Ensembl
• Aliases: OOMD, OOMD2, bA631M21.2
• Gene name: tubulin beta 8 class VIII
• Alternate names: tubulin beta-8 chain, HSA10p15 beta-tubulin 4Q,
• Gene location: 10p15.3 (49503: 46436)     Exons: 7     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016]
• OMIM: 611285

Protein Summary

• Protein general information: Q3ZCM7  
  • Name: Tubulin beta 8 chain (Tubulin beta 8 class VIII)
  • Length: 444  
  • Mass: 49776
  • Tissue specificity: Expressed at a high level in oocytes, at different stages of development. {ECO
• Sequence:

  MREIVLTQIGQCGNQIGAKFWEVISDEHAIDSAGTYHGDSHLQLERINVYYNEASGGRYVPRAVLVDLEPGTMDS
  VRSGPFGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTL
  LLSKIREEYPDRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDL
  NHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMM
  AACDPRHGRYLTAAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPPRGLKMSATFIGNNTAIQ
  ELFKRVSEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA

• Structural information:
  • Interpro: IPR013838  IPR002453  IPR008280  IPR000217  IPR018316   IPR037103  IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227 PS00228
  • STRING: ENSP00000456206
• Other Databases: GeneCards:  TUBB8  Malacards:  TUBB8

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:0072687	meiotic spindle	IDA	cellular component
GO:0001556	oocyte maturation	IMP	biological process
GO:0007056	spindle assembly involved in female meiosis	IMP	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:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005819	spindle	IEA	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
Oocyte maturation defect	KEGG:H01897
Oocyte maturation defect	KEGG:H01897
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881