Gene
tsen54
- ID
- ZDB-GENE-050522-454
- Name
- TSEN54 tRNA splicing endonuclease subunit
- Symbol
- tsen54 Nomenclature History
- Previous Names
-
- zgc:109927
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Involved in brain morphogenesis. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 4; and pontocerebellar hypoplasia type 5. Is expressed in midbrain hindbrain boundary and telencephalon. Orthologous to human TSEN54 (tRNA splicing endonuclease subunit 54).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:109927 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Kasher et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pontocerebellar hypoplasia type 2A | Alliance | Pontocerebellar hypoplasia type 2A | 277470 |
| pontocerebellar hypoplasia type 4 | Alliance | Pontocerebellar hypoplasia type 4 | 225753 |
| pontocerebellar hypoplasia type 5 | Alliance | ?Pontocerebellar hypoplasia type 5 | 610204 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | tRNA-splicing endonuclease, subunit Sen54 | tRNA-splicing endonuclease, subunit Sen54, N-terminal |
|---|---|---|---|
|
UniProtKB:A0A8M9PHH1
|
410 | ||
|
UniProtKB:A0A8M9PZ47
|
499 | ||
|
UniProtKB:A0A8M9PNE7
|
504 | ||
|
UniProtKB:A0A8M9PVP3
|
402 | ||
|
UniProtKB:Q504E6
|
397 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available