Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
203068
Gene name Gene Name - the full gene name approved by the HGNC.
Tubulin beta class I
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TUBB
Synonyms (NCBI Gene) Gene synonyms aliases
CDCBM6, CSCSC1, M40, OK/SW-cl.56, TUBB1, TUBB5
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191130 20778 ENSG00000196230
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cortical Dysplasia With Other Brain Malformations Complex cortical dysplasia with other brain malformations 6 rs878853162, rs1581668624, rs587777355, rs587777356, rs587777357 N/A
Multiple Benign Circumferential Skin Creases On Limbs Multiple benign circumferential skin creases on limbs 1 rs864321676, rs864321677, rs587777357 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cervical Cancer Cervical cancer N/A N/A GWAS
Lissencephaly lissencephaly N/A N/A ClinVar
seizure Seizure N/A N/A ClinVar
Associations from Text Mining Disease 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