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 enable GTPase activator activity. Predicted to be active in cytoplasm and plasma membrane. 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