TUBA4B
protein-codingtubulin alpha 4b, the group of Tubulins
Gene summary
Predicted to enable GTP binding activity; hydrolase activity; and metal ion binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in cytoskeleton organization and microtubule-based process. Predicted to be located in microtubule. [provided by Alliance of Genome Resources, Jun 2026]
- TUBA4
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~19.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TUBA4B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001355221.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 1 | 0 | 0 | 1 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001342150.1 | 4 | MANE Select | |
| Ensembl | ENSP00000487719.1 | 4 | MANE Select | |
| Ensembl | ENSP00000518849.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Parkin-Ubiquitin Proteasomal System pathway
- stathmin and breast cancer resistance to antimicrotubule agents
- downregulated of mta-3 in er-negative breast tumors
- Metabolism of proteins
- Chaperonin-mediated protein folding
Biological Process
- cytoskeleton organization
- microtubule-based process
- biological_process
Molecular Function
- molecular_function
- GTPase activity
- structural constituent of cytoskeleton
- GTP binding
Cellular Component
- cellular_component
- cytoplasm
- microtubule
dbNSFP Gene Annotations
Source: