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 act upstream of or within cell projection organization. Predicted to be located in cilium and plasma membrane. Predicted to be part of MKS complex. Predicted to be active in ciliary membrane and ciliary transition zone. Is expressed in blood; median fin fold; and periderm. Human ortholog(s) of this gene implicated in Joubert syndrome 20 and Meckel syndrome. 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tmem231-201
(1)
|
Ensembl | 1,631 nt | ||
| mRNA |
tmem231-202
(1)
|
Ensembl | 847 nt |
Interactions and Pathways
No data available
Plasmids
No data available