• Gene id: 51807

Gene Summary

• Gene Symbol: TUBA8   Gene   UCSC   Ensembl
• Aliases: CDCBM8, TUBAL2
• Gene name: tubulin alpha 8
• Alternate names: tubulin alpha-8 chain, tubulin alpha chain-like 2,
• Gene location: 22q11.21 (18110686: 18131730)     Exons: 5     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria
• OMIM: 605742

Protein Summary

• Protein general information: Q9NY65  
  • Name: Tubulin alpha 8 chain (Alpha tubulin 8) (Tubulin alpha chain like 2)
  • Length: 449  
  • Mass: 50,094
• Sequence:

  MRECISVHVGQAGVQIGNACWELFCLEHGIQADGTFDAQASKINDDDSFTTFFSETGNGKHVPRAVMIDLEPTVV
  DEVRAGTYRQLFHPEQLITGKEDAANNYARGHYTVGKESIDLVLDRIRKLTDACSGLQGFLIFHSFGGGTGSGFT
  SLLMERLSLDYGKKSKLEFAIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYT
  NLNRLISQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLVTYAPIISAEKAYHEQLSVAEITSSCFEPNS
  QMVKCDPRHGKYMACCMLYRGDVVPKDVNVAIAAIKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAV
  CMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDLAALEKDYEEVGTDSFEEENEGEEF

• Structural information:
  • Interpro: IPR002452  IPR008280  IPR000217  IPR018316  IPR037103   IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227
  • DIP: 40751
  • STRING: ENSP00000333326
• Other Databases: GeneCards:  TUBA8  Malacards:  TUBA8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IEA	molecular function
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0007017	microtubule-based process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
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:0007017	microtubule-based process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04145	Phagosome
hsa04210	Apoptosis
hsa04530	Tight junction
hsa04540	Gap junction
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Polymicrogyria	KEGG: H00271
Schizophrenia	GAD: 16380905
Asthenozoospermia	MIK: 24268707
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenozoospermia	MIK: 24268707
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24268707	Asthenozoospermia			100 (50 men with normal sperm parameters, 50 men with asthenozoospermia)	Male infertility	UBA3C TUBA4A and TUBA8
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray