Gene
tbc1d23
- ID
- ZDB-GENE-040426-1253
- Name
- TBC1 domain family, member 23
- Symbol
- tbc1d23 Nomenclature History
- Previous Names
-
- zgc:63756 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Involved in brain development and embryonic brain development. Predicted to localize to cytoplasmic vesicle and trans-Golgi network. Used to study pontocerebellar hypoplasia. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia. Is expressed in head. Orthologous to human TBC1D23 (TBC1 domain family member 23).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pontocerebellar hypoplasia type 11 | Alliance | Pontocerebellar hypoplasia, type 11 | 617695 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000195 | Rab-GAP-TBC domain |
| Domain | IPR001763 | Rhodanese-like domain |
| Domain | IPR045799 | TBC1 domain family member 23, C-terminal domain |
| Family | IPR039755 | TBC1 domain family member 23 |
| Homologous_superfamily | IPR035969 | Rab-GAP-TBC domain superfamily |
| Homologous_superfamily | IPR036873 | Rhodanese-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Rab-GAP-TBC domain | Rab-GAP-TBC domain superfamily | Rhodanese-like domain | Rhodanese-like domain superfamily | TBC1 domain family member 23 | TBC1 domain family member 23, C-terminal domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BD99
|
695 | ||||||
|
UniProtKB:Q7SXV1
|
680 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tbc1d23-201
(1)
|
Ensembl | 3,273 nt |
Interactions and Pathways
No data available
Plasmids
No data available