Gene
tbc1d2b
- ID
- ZDB-GENE-100922-148
- Name
- TBC1 domain family, member 2B
- Symbol
- tbc1d2b Nomenclature History
- Previous Names
-
- si:dkey-216e6.5
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have GTPase activator activity and Rab GTPase binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Orthologous to human TBC1D2B (TBC1 domain family member 2B).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Neurodevelopmental disorder with seizures and gingival overgrowth | 619323 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | PH-like domain superfamily | Pleckstrin homology domain | Rab-GAP-TBC domain | Rab-GAP-TBC domain superfamily | Rab GTPase-activating TBC domain-containing protein |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BA92
|
945 | |||||
|
UniProtKB:E7FB23
|
946 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tbc1d2b-201
(1)
|
Ensembl | 2,938 nt | ||
| mRNA |
tbc1d2b-202
(1)
|
Ensembl | 2,515 nt |
Interactions and Pathways
No data available
Plasmids
No data available