• Gene id: 10382

Gene Summary

• Gene Symbol: TUBB4A   Gene   UCSC   Ensembl
• Aliases: DYT4, TUBB4, beta-5
• Gene name: tubulin beta 4A class IVa
• Alternate names: tubulin beta-4A chain, dystonia 4, torsion (autosomal dominant), tubulin beta-4 chain, tubulin, beta 4, tubulin, beta, 5,
• Gene location: 19p13.3 (6502847: 6494318)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and au
• OMIM: 142973

Protein Summary

• Protein general information: P04350  
  • Name: Tubulin beta 4A chain (Tubulin 5 beta) (Tubulin beta 4 chain)
  • Length: 444  
  • Mass: 49586
  • Tissue specificity: Major isotype in brain, where it represents 46% of all beta-tubulins. In the brain, highest expression levels in the cerebellum, followed by putamen and white matter. Moderate levels in testis. Very low levels, if any, in other tissues
• Sequence:

  MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDS
  VRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTL
  LISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDL
  NHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMM
  AACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCDIPPRGLKMAATFIGNSTAIQ
  ELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA

• Structural information:
  • Interpro: IPR013838  IPR002453  IPR008280  IPR000217  IPR018316   IPR037103  IPR036525  IPR023123  IPR017975  IPR003008  
  • Prosite: PS00227 PS00228
  • STRING: ENSP00000264071
• Other Databases: GeneCards:  TUBB4A  Malacards:  TUBB4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0007017	microtubule-based process	IBA	biological process
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: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:0000166	nucleotide binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043209	myelin sheath	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0033269	internode region of axon	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005509	calcium ion binding	IMP	molecular function
GO:0031115	negative regulation of microtubule polymerization	IMP	biological process
GO:0005874	microtubule	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0000278	mitotic cell cycle	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0007017	microtubule-based process	IBA	biological process
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: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:0000166	nucleotide binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043209	myelin sheath	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0033269	internode region of axon	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005509	calcium ion binding	IMP	molecular function
GO:0031115	negative regulation of microtubule polymerization	IMP	biological process
GO:0005874	microtubule	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	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
Hypomyelinating leukodystrophy	KEGG:H00679
Hypomyelinating leukodystrophy	KEGG:H00679
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq