Gene
tmem231
- ID
- ZDB-GENE-040426-1386
- Name
- transmembrane protein 231
- Symbol
- tmem231 Nomenclature History
- Previous Names
-
- chst5
- zgc:64166 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to be involved in cilium assembly; regulation of protein localization; and smoothened signaling pathway. Predicted to localize to MKS complex and ciliary membrane. Human ortholog(s) of this gene implicated in Joubert syndrome 20 and Meckel syndrome. Is expressed in blood; median fin fold; and periderm. Orthologous to human TMEM231 (transmembrane protein 231).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64166 (12 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 |
|---|---|---|---|
| Joubert syndrome 20 | Alliance | Joubert syndrome 20 | 614970 |
| Meckel syndrome 11 | 615397 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR019306 | Transmembrane protein 231 |
Domain Details Per Protein
| Protein | Length | Transmembrane protein 231 |
|---|---|---|
|
UniProtKB:Q7T316
|
309 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
tmem231-201
(1)
|
Havana | 1631 nt | |
| mRNA |
tmem231-202
(1)
|
Havana | 847 nt |
Interactions and Pathways
No data available
Plasmids
No data available