Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10381
Gene name Gene Name - the full gene name approved by the HGNC.
Tubulin beta 3 class III
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TUBB3
Synonyms (NCBI Gene) Gene synonyms aliases
CDCBM, CDCBM1, CFEOM3, CFEOM3A, FEOM3, TUBB4, beta-4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDCBM1, CFEOM3A
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34174718 G>A,C Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs142238093 G>A,T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant
rs147283850 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant, synonymous variant
rs267607162 C>T Pathogenic Missense variant, coding sequence variant
rs267607163 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000196 hsa-miR-200c-3p Western blot 20049172
MIRT000196 hsa-miR-200c-3p ELISA, Immunoblot, Immunocytochemistry, Luciferase reporter assay, Microarray, qRT-PCR 19435871
MIRT000196 hsa-miR-200c-3p ELISA, Immunoblot, Immunocytochemistry, Luciferase reporter assay, Microarray, qRT-PCR 19435871
MIRT016480 hsa-miR-193b-3p Proteomics 21512034
MIRT019563 hsa-miR-340-5p Sequencing 20371350
Transcription factors
Transcription factor Regulation Reference
HIF1A Unknown 21176881
REST Repression 22684772
REST Unknown 22159867
SOX11 Unknown 21124928
SOX2 Repression 20739473
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA 21873635
GO:0000278 Process Mitotic cell cycle IBA 21873635
GO:0003924 Function GTPase activity IEA
GO:0005200 Function Structural constituent of cytoskeleton IBA 21873635
GO:0005515 Function Protein binding IPI 21044950, 24021646, 28483977
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602661 20772 ENSG00000258947
Protein
UniProt ID Q13509
Protein name Tubulin beta-3 chain (Tubulin beta-4 chain) (Tubulin beta-III)
Protein function Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:34996871, PubMed:38305685, PubMed:38609661). Microtubules grow by the addition of GTP-tubulin dimers to the microtubul
PDB 5IJ0 , 5IJ9 , 5JCO , 6E7B , 6S8L , 6WSL , 7LXB , 7M18 , 7M20 , 7PJF , 7SJ7 , 7SJ8 , 7SJ9 , 7SJA , 7Z6S , 8VRJ , 8VRK , 8VT7
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: Expression is primarily restricted to central and peripheral nervous system. Greatly increased expression in most cancerous tissues. {ECO:0000269|PubMed:14736079, ECO:0000269|PubMed:20191564}.
Sequence
Sequence length 450
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
  Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Recruitment of NuMA to mitotic centrosomes
Recycling pathway of L1
Hedgehog 'off' state
Cilium Assembly
Intraflagellar transport
RHO GTPases activate IQGAPs
RHO GTPases Activate Formins
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
The role of GTSE1 in G2/M progression after G2 checkpoint
Carboxyterminal post-translational modifications of tubulin
HCMV Early Events
Aggrephagy
EML4 and NUDC in mitotic spindle formation
Sealing of the nuclear envelope (NE) by ESCRT-III
Kinesins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
21781528
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
21781528
Congenital fibrosis of extraocular muscles Congenital Fibrosis of the Extraocular Muscles, Congenital fibrosis of extraocular muscles rs121912585, rs121912586, rs121912587, rs121912588, rs121912589, rs121912590, rs267603451 20074521
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Cortical Dysplasia complex cortical dysplasia with other brain malformations 1 GenCC
Tubulinopathy-Associated Dysgyria tubulinopathy-associated dysgyria GenCC
Carcinoma Carcinoma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abducens Nerve Diseases Associate 20393110
Adenocarcinoma Associate 25921119
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 23378218
Astrocytoma Associate 12946225
Basal Ganglia Diseases Associate 34652576, 40179460
Blepharoptosis Associate 20393110
Brain Diseases Associate 39643435
Brain Injuries Traumatic Associate 27530814
Brain Neoplasms Associate 29022485
Brain Stem Neoplasms Associate 26130693