Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7280
Gene name Gene Name - the full gene name approved by the HGNC.
Tubulin beta 2A class IIa
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TUBB2A
Synonyms (NCBI Gene) Gene synonyms aliases
CDCBM5, TUBB, TUBB2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDCBM5
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p25.2
Summary Summary of gene provided in NCBI Entrez Gene.
Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortica
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2808001 G>A Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs797046074 T>A Pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs863224939 T>G Likely-pathogenic Coding sequence variant, missense variant
rs886037663 G>C Pathogenic Coding sequence variant, missense variant
rs886039447 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT041626 hsa-miR-484 CLASH 23622248
MIRT437712 hsa-miR-29a-3p Microarray, qRT-PCR 22815788
MIRT437713 hsa-miR-29b-3p Microarray, qRT-PCR 22815788
MIRT437714 hsa-miR-29c-3p Microarray, qRT-PCR 22815788
MIRT465016 hsa-miR-4475 PAR-CLIP 20371350
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:0001764 Process Neuron migration IBA 21873635
GO:0003924 Function GTPase activity IEA
GO:0005200 Function Structural constituent of cytoskeleton IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615101 12412 ENSG00000137267
Protein
UniProt ID Q13885
Protein name Tubulin beta-2A chain (Tubulin beta class IIa)
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 7NVN , 8V3O , 8V3P
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: High expression in brain, where it represents 30% of all beta-tubulins. {ECO:0000269|PubMed:20191564}.
Sequence
Sequence length 445
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
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Cortical dysplasia with other brain malformations CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 rs137853194, rs137853195, rs137853196, rs267607164, rs267607165, rs878853256, rs878853257, rs878853258, rs397514567, rs397514569, rs398123045, rs398123046, rs398123047, rs587777033, rs587777034
View all (45 more)
25326637, 24702957
Creutzfeldt-jakob disease New Variant Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Disease, Familial rs193922906, rs74315401, rs28933385, rs74315412, rs398122370 23349890
Unknown
Disease term Disease name Evidence References Source
Cortical Dysplasia complex cortical dysplasia with other brain malformations 5 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Brain Injuries Traumatic Associate 27530814
Breast Neoplasms Associate 37190091
Budd Chiari Syndrome Associate 28983615
Central Nervous System Vascular Malformations Associate 32571897
Crohn Disease Associate 36746519
Developmental Disabilities Associate 32571897, 35930870
Epilepsy Associate 35930870
Essential Tremor Associate 36183486
Glioblastoma Associate 40642071
Insulin Resistance Associate 30678306