TMEM231 Gene Summary [Human]
This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | TMEM231 |
| Official Name | transmembrane protein 231 [Source:HGNC Symbol;Acc:HGNC:37234] |
| Ensembl ID | ENSG00000205084 |
| Bio databases IDs | |
| Aliases | transmembrane protein 231 |
| Synonyms | 4932417I16Rik, ALYE870, Gm178, JBTS20, MKS11, PRO1886, RGD1306153, transmembrane protein 231 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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