Gene
tubb4b
- ID
- ZDB-GENE-030131-8625
- Name
- tubulin, beta 4B class IVb
- Symbol
- tubb4b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have GTP binding activity. Involved in cilium assembly. Predicted to localize to cytoplasm and microtubule. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 6 and torsion dystonia 4. Is expressed in brain. Orthologous to several human genes including TUBB4B (tubulin beta 4B class IVb).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Shim et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis with early-onset deafness | Alliance | Leber congenital amaurosis with early-onset deafness | 617879 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR013838 | Beta tubulin, autoregulation binding site |
| Conserved_site | IPR017975 | Tubulin, conserved site |
| Domain | IPR003008 | Tubulin/FtsZ, GTPase domain |
| Domain | IPR018316 | Tubulin/FtsZ, 2-layer sandwich domain |
| Family | IPR000217 | Tubulin |
| Family | IPR002453 | Beta tubulin |
| Homologous_superfamily | IPR008280 | Tubulin/FtsZ, C-terminal |
| Homologous_superfamily | IPR023123 | Tubulin, C-terminal |
| Homologous_superfamily | IPR036525 | Tubulin/FtsZ, GTPase domain superfamily |
| Homologous_superfamily | IPR037103 | Tubulin/FtsZ-like, C-terminal domain |
Domain Details Per Protein
| Protein | Length | Beta tubulin | Beta tubulin, autoregulation binding site | Tubulin | Tubulin, conserved site | Tubulin, C-terminal | Tubulin/FtsZ, 2-layer sandwich domain | Tubulin/FtsZ, C-terminal | Tubulin/FtsZ, GTPase domain | Tubulin/FtsZ, GTPase domain superfamily | Tubulin/FtsZ-like, C-terminal domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6P5M9
|
445 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tubb4b-001
(1)
|
Ensembl | 1,615 nt | ||
| mRNA |
tubb4b-202
(1)
|
Ensembl | 559 nt |
Interactions and Pathways
No data available
Plasmids
No data available