ZFIN is now using GRCz12tu for Genomic Data
Gene
tbcd
- ID
- ZDB-GENE-060823-1
- Name
- tubulin folding cofactor D
- Symbol
- tbcd Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable GTPase activator activity and beta-tubulin binding activity. Acts upstream of or within brain development and retina layer formation. Predicted to be located in several cellular components, including bicellular tight junction; centrosome; and lateral plasma membrane. Human ortholog(s) of this gene implicated in early onset progressive encephalopathy with brain atrophy and thin corpus callosum. Orthologous to human TBCD (tubulin folding cofactor D).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Pode-Shakked et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| early onset progressive encephalopathy with brain atrophy and thin corpus callosum | Alliance | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | Tubulin-folding cofactor D | Tubulin-folding cofactor D, ARM repeats | Tubulin-folding cofactor D, C-terminal domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A0R4IXD9 | InterPro | 1191 | |||||
| UniProtKB:A0AC58J3K0 | InterPro | 1191 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers