Tmem231 Gene Summary [Mouse]
Involved in cilium assembly and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic digit morphogenesis; in utero embryonic development; and neuroepithelial cell differentiation. Located in ciliary membrane and ciliary transition zone. Part of MKS complex. Is expressed in embryo. Human ortholog(s) of this gene implicated in Joubert syndrome 20 and Meckel syndrome. Orthologous to human TMEM231 (transmembrane protein 231). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tmem231 |
| Official Name | transmembrane protein 231 [Source:MGI Symbol;Acc:MGI:2685024] |
| Ensembl ID | ENSMUSG00000031951 |
| Bio databases IDs | |
| Aliases | transmembrane protein 231 |
| Synonyms | 4932417I16Rik, ALYE870, Gm178, JBTS20, MKS11, PRO1886, RGD1306153, transmembrane protein 231 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Tmem231 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Transmembrane protein 231
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diarrhea
- Joubert syndrome related disorder
- hereditary disorder
- orofaciodigital syndrome type 3
- microphthalmia
- ciliopathy
- Meckel syndrome type 11
- Meckel syndrome
- Joubert syndrome type 20
- congenital anomalies of kidney and urinary tract
role in cell
- expression in
- differentiation
- formation
- formation in
- assembly
- ciliogenesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- ciliary transition zone
- cilia
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tmem231 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuroepithelial cell differentiation
- cilium morphogenesis
- regulation of protein localization
- in utero embryonic development
- vasculature development
- camera-type eye development
- smoothened signaling pathway
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- cilium membrane
- ciliary transition zone
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- protein binding