Gene
tfe3a
- ID
- ZDB-GENE-010919-2
- Name
- transcription factor binding to IGHM enhancer 3a
- Symbol
- tfe3a Nomenclature History
- Previous Names
-
- cb873 (1)
- zgc:109815
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in transcription, DNA-templated. Predicted to localize to nucleoplasm. Human ortholog(s) of this gene implicated in renal cell carcinoma. Is expressed in several structures, including hindbrain neural plate; intermediate cell mass of mesoderm; solid lens vesicle; ventral mesoderm; and yolk syncytial layer. Orthologous to human TFE3 (transcription factor binding to IGHM enhancer 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb873 (7 images)
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 |
|---|---|---|---|
| renal cell carcinoma | Alliance | Renal cell carcinoma, papillary, 1 | 300854 |
| Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies | 301066 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Helix-loop-helix DNA-binding domain superfamily | MiT/TFE transcription factors, C-terminal | MiT/TFE transcription factors, N-terminal | Myc-type, basic helix-loop-helix (bHLH) domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BE60
|
442 | ||||
|
UniProtKB:Q561Z2
|
539 | ||||
|
UniProtKB:A0A8M2BE83
|
292 |
Interactions and Pathways
No data available
Plasmids
No data available