TMEM216 Gene Summary [Human]
This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
Details
| Type | Protein Coding |
| Official Symbol | TMEM216 |
| Official Name | transmembrane protein 216 [Source:HGNC Symbol;Acc:HGNC:25018] |
| Ensembl ID | ENSG00000187049 |
| Bio databases IDs | |
| Aliases | transmembrane protein 216 |
| Synonyms | 1110017C22Rik, 2810441K11Rik, 4921533J23Rik, A930021F15Rik, HSPC244, RGD1304607, RP98, transmembrane protein 216 |
| 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 TMEM216 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Predicted membrane protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM216 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- membrane
- cilium
- cytosol
- ciliary transition zone
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- protein binding