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 embryonic brain development. Acts upstream of or within brain development. Predicted to be located in cytoplasmic vesicle. Predicted to be active in trans-Golgi network. Is expressed in head. Used to study pontocerebellar hypoplasia. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 11. 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