Gene Gene information from NCBI Gene database.
Entrez ID 7280
Gene name Tubulin beta 2A class IIa
Gene symbol TUBB2A
Synonyms (NCBI Gene)
CDCBM5TUBBTUBB2
Chromosome 6
Chromosome location 6p25.2
Summary 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.
11
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.
1378
miRTarBase ID miRNA Experiments Reference
MIRT041626 hsa-miR-484 CLASH 23622248
MIRT437712 hsa-miR-29a-3p MicroarrayqRT-PCR 22815788
MIRT437713 hsa-miR-29b-3p MicroarrayqRT-PCR 22815788
MIRT437714 hsa-miR-29c-3p MicroarrayqRT-PCR 22815788
MIRT465016 hsa-miR-4475 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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:0001764 Process Neuron migration IBA
GO:0003924 Function GTPase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615101 12412 ENSG00000137267
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
65
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal cerebral morphology Pathogenic rs2113785083 RCV002275206
Complex cortical dysplasia with other brain malformations 5 Likely pathogenic; Pathogenic rs1762593142, rs2113785077, rs2113785156, rs886037663, rs1762626709, rs2533524634, rs797046074, rs1064795249, rs1064795334, rs1554122959, rs1581496351 RCV001332734
RCV001375959
RCV003128271
RCV000114958
RCV002249195
RCV003128209
RCV000193632
RCV001526458
RCV000824991
RCV001823146
RCV000985127
RCV001253152
Congenital cerebellar hypoplasia Pathogenic rs886037663 RCV001258016
Neurodevelopmental delay Likely pathogenic rs2113785712 RCV002274426
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs2113784970 RCV001843731
Neurodevelopmental disorder Uncertain significance rs2113785610 RCV001780042
See cases Conflicting classifications of pathogenicity rs1057521250 RCV001420214
Seizure Conflicting classifications of pathogenicity rs863224939 RCV002274940
Associations from Text MiningDisease associations identified through Pubtator
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