Gene
tbc1d24
- ID
- ZDB-GENE-050809-65
- Name
- TBC1 domain family, member 24
- Symbol
- tbc1d24 Nomenclature History
- Previous Names
-
- im:7158380
- si:ch73-171a6.3
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in DOORS syndrome; epilepsy (multiple); and nonsyndromic deafness (multiple). Orthologous to human TBC1D24 (TBC1 domain family member 24).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7158380 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 65 | Alliance | Deafness, autosomal dominant 65 | 616044 |
| autosomal recessive nonsyndromic deafness 86 | Alliance | Deafness, autosomal recessive 86 | 614617 |
| developmental and epileptic encephalopathy 16 | Alliance | Developmental and epileptic encephalopathy 16 | 615338 |
| DOORS syndrome | Alliance | DOORS syndrome | 220500 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | Alliance | Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp | 608105 |
| Myoclonic epilepsy, infantile, familial | 605021 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Rab-GAP-TBC domain | Rab-GAP-TBC domain superfamily | TLDc domain |
|---|---|---|---|---|
|
UniProtKB:A0A8M1RN56
|
606 | |||
|
UniProtKB:A0A8M3B6W1
|
610 | |||
|
UniProtKB:A0A8M9PMI2
|
569 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
tbc1d24-201
(1)
|
Havana | 6167 nt |
Interactions and Pathways
No data available
Plasmids
No data available