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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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
Abnormal cerebral morphology Pathogenic rs2113785083 RCV002275206
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital cerebellar hypoplasia Pathogenic rs886037663 RCV001258016
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Likely pathogenic rs2113785712 RCV002274426
★★★★☆
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
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB DISEASE Disgenet
★★☆☆☆
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 Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 28840640
★☆☆☆☆
Found in Text Mining only
Brain Injuries Traumatic Brain injuries Pubtator 27530814 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37190091 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Congenital anomaly of brain Brain malformation BEFREE 28840640
★☆☆☆☆
Found in Text Mining only
Cortical Dysplasia Cortical Dysplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 Cortical Dysplasia With Other Brain Malformations GENOMICS_ENGLAND_DG 24702957, 25326637
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 Cortical Dysplasia With Other Brain Malformations UNIPROT_DG 24702957
★★☆☆☆
Found in Text Mining + Unknown/Other Associations