ZFIN is now using GRCz12tu for Genomic Data
Gene
tbc1d7
- ID
- ZDB-GENE-040426-1747
- Name
- TBC1 domain family, member 7
- Symbol
- tbc1d7 Nomenclature History
- Previous Names
-
- zgc:73291
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable GTPase activator activity and TSC1-TSC2 complex binding activity. Predicted to be involved in several processes, including activation of GTPase activity; cellular response to starvation; and negative regulation of TORC1 signaling. Predicted to be located in cytosol. Predicted to be part of TSC1-TSC2 complex. Orthologous to human TBC1D7 (TBC1 domain family member 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73291 (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 |
|---|---|---|---|
| Macrocephaly/megalencephaly syndrome, autosomal recessive | 248000 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Rab-GAP-TBC domain | Rab-GAP-TBC domain superfamily | TBC1 domain family member 7 | TBC1 domain family member 7, domain 2 |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PSJ9 | InterPro | 294 | ||||
| UniProtKB:F1QRX7 | InterPro | 294 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tbc1d7-201
(1)
|
Ensembl | 1,303 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers