Tubulin beta 4B class IVb (TUBB4B) Associated conditions: 1. Leber congenital amaurosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Tubulin beta 4B class IVb (TUBB4B) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | enables | nucleotide binding | Function | - |
| 2 | Homo sapiens | IBA | involved_in | microtubule cytoskeleton organization | Process | - |
| 3 | Homo sapiens | IBA | involved_in | mitotic cell cycle | Process | - |
| 4 | Homo sapiens | IDA | enables | double-stranded RNA binding | Function | 21266579 |
| 5 | Homo sapiens | IEA | enables | GTPase activity | Function | - |
| 6 | Homo sapiens | IBA | enables | structural constituent of cytoskeleton | Function | - |
| 7 | Homo sapiens | IEA | enables | structural constituent of cytoskeleton | Function | - |
| 8 | Homo sapiens | IPI | enables | protein binding | Function | 24275654 31046837 |
| 9 | Homo sapiens | IBA | enables | GTP binding | Function | - |
| 10 | Homo sapiens | IEA | enables | GTP binding | Function | - |
| 11 | Homo sapiens | TAS | located_in | extracellular region | Component | - |
| 12 | Homo sapiens | HDA | located_in | nucleus | Component | 21630459 |
| 13 | Homo sapiens | IBA | is_active_in | cytoplasm | Component | - |
| 14 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 15 | Homo sapiens | IEA | located_in | cytoskeleton | Component | - |
| 16 | Homo sapiens | TAS | located_in | cytoskeleton | Component | 16130169 |
| 17 | Homo sapiens | IBA | is_active_in | microtubule | Component | - |
| 18 | Homo sapiens | IDA | located_in | microtubule | Component | 21525035 |
| 19 | Homo sapiens | IEA | located_in | microtubule | Component | - |
| 20 | Homo sapiens | IDA | located_in | axonemal microtubule | Component | 36191189 |
| 21 | Homo sapiens | IEA | involved_in | microtubule-based process | Process | - |
| 22 | Homo sapiens | IEA | involved_in | flagellated sperm motility | Process | - |
| 23 | Homo sapiens | TAS | located_in | azurophil granule lumen | Component | - |
| 24 | Homo sapiens | IEA | is_active_in | sperm flagellum | Component | - |
| 25 | Homo sapiens | NAS | involved_in | natural killer cell mediated cytotoxicity | Process | 11120798 |
| 26 | Homo sapiens | TAS | enables | MHC class I protein binding | Function | 11120798 |
| 27 | Homo sapiens | IEA | located_in | intercellular bridge | Component | - |
| 28 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 29 | Homo sapiens | NAS | enables | unfolded protein binding | Function | 11120798 |
| 30 | Homo sapiens | HDA | located_in | extracellular exosome | Component | 11487543 20458337 23533145 |
| 31 | Homo sapiens | IEA | located_in | mitotic spindle | Component | - |
| 32 | Homo sapiens | HDA | located_in | extracellular vesicle | Component | 24769233 |