Gene Gene information from NCBI Gene database.
Entrez ID 203068
Gene name Tubulin beta class I
Gene symbol TUBB
Synonyms (NCBI Gene)
CDCBM6CSCSC1M40OK/SW-cl.56TUBB1TUBB5
Chromosome 6
Chromosome location 6p21.33
Summary This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing re
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs1059145 A>G Likely-pathogenic Coding sequence variant, intron variant, missense variant
rs587777355 A>G Pathogenic Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs587777356 G>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs587777357 G>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs864321676 C>A Pathogenic Missense variant, coding sequence variant, intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
968
miRTarBase ID miRNA Experiments Reference
MIRT031467 hsa-miR-16-5p Proteomics 18668040
MIRT051953 hsa-let-7b-5p CLASH 23622248
MIRT031467 hsa-miR-16-5p CLASH 23622248
MIRT050552 hsa-miR-20a-5p CLASH 23622248
MIRT050270 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000278 Process Mitotic cell cycle IBA
GO:0003924 Function GTPase activity IEA
GO:0005198 Function Structural molecule activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191130 20778 ENSG00000196230
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07437
Protein name Tubulin beta chain (Tubulin beta-5 chain)
Protein function Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule en
PDB 3QNZ , 3QO0 , 5N5N , 6I2I , 6QUS , 6QUY , 6QVE , 6QVJ , 7TRG , 7TTN , 7TTT , 7TUB , 7X0S , 8BPO , 8T42 , 8U3Z , 8V2J , 9BP6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00091 Tubulin 3 212 Tubulin/FtsZ family, GTPase domain Domain
PF03953 Tubulin_C 261 383 Tubulin C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in spleen, thymus and immature brain. {ECO:0000269|PubMed:20191564}.
Sequence
Sequence length 444
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phagosome
Gap junction
Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection
  Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
Neutrophil degranulation
AURKA Activation by TPX2
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Complex cortical dysplasia with other brain malformations 6 Likely pathogenic; Pathogenic rs2127749078, rs587777355, rs587777356, rs587777357, rs2127749740, rs2536608099, rs2536600951, rs878853162, rs2536604435, rs1581668624, rs1776361528, rs1776478413 RCV001526396
RCV000115018
RCV000115019
RCV000115020
RCV001825288
RCV002290257
RCV003224898
RCV000224973
RCV003150919
RCV000995671
RCV001254050
RCV001255757
Hypoplasia of the corpus callosum Likely pathogenic rs2127749978 RCV001391261
Multiple benign circumferential skin creases on limbs 1 Likely pathogenic; Pathogenic rs2127749078, rs587777356, rs587777357, rs1776147010, rs864321676, rs864321677 RCV001526396
RCV004796020
RCV002274914
RCV002249194
RCV000203282
RCV000203277
TUBB-related disorder Likely pathogenic rs587777356 RCV004730874
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2127746598, rs1776303588 -
Abnormal brain morphology Conflicting classifications of pathogenicity rs2127749786 RCV001526664
Congenital fibrosis of extraocular muscles Uncertain significance rs2536610483 RCV003984294
Lissencephaly Conflicting classifications of pathogenicity rs1554202416 RCV001291303
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 32085672
Alzheimer Disease Associate 31377428
Aprosencephaly and Cerebellar Dysgenesis Associate 32085672
Arthritis Rheumatoid Associate 27898717
Basal Ganglia Diseases Associate 40179460
Bipolar Disorder Associate 33168801
Bone Marrow Failure Disorders Associate 36207145
Bone Marrow Neoplasms Associate 36207145
Carcinoma Non Small Cell Lung Associate 23237220
Carcinoma Renal Cell Stimulate 25368985