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.
13
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.
50
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplasia of the corpus callosum Likely pathogenic rs2127749978 RCV001391261
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple benign circumferential skin creases on limbs 1 Likely pathogenic; Pathogenic rs2127749078, rs587777356, rs587777357, rs1776147010, rs864321676, rs864321677 RCV001526396
RCV004796020
RCV002274914
RCV002249194
RCV000203282
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TUBB-related disorder Likely pathogenic rs587777356 RCV004730874
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal brain morphology Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 21751358
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31508486
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 32085672 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31377428 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27898717 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant macrothrombocytopenia Macrothrombocytopenia ORPHANET_DG 18849486
★☆☆☆☆
Found in Text Mining only
Autosomal dominant macrothrombocytopenia Macrothrombocytopenia Orphanet
★☆☆☆☆
Found in Text Mining only
Basal Ganglia Diseases Basal ganglia disease Pubtator 40179460 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 33168801 Associate
★☆☆☆☆
Found in Text Mining only
Blepharophimosis Blepharophimosis HPO_DG
★☆☆☆☆
Found in Text Mining only