TMEM67 Gene Summary [Human]
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
Details
| Type | Protein Coding |
| Official Symbol | TMEM67 |
| Official Name | transmembrane protein 67 [Source:HGNC Symbol;Acc:HGNC:28396] |
| Ensembl ID | ENSG00000164953 |
| Bio databases IDs | |
| Aliases | transmembrane protein 67, Meckelin |
| Synonyms | 5330408M12Rik,B230117O07,b2b1163.1Clo,b2b1291.1Clo,JBTS6,MECKELIN,MKS3,NPHP11,TNEM67,transmembrane protein 67,Wpk |
| Species | Human, Homo sapiens |
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 TMEM67 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Meckelin (Transmembrane protein 67)
- cytoskeletal protein binding
- transmembrane domain
- protein binding
- endoplasmic reticulum lumenal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- RHYNS syndrome
- Joubert syndrome type 6
- Meckel syndrome type 3
- ciliopathy
- Meckel syndrome
- COACH syndrome type 1
- nephronophthisis type 11
- Joubert syndrome related disorder
- Bardet-Biedl syndrome type 14
role in cell
- binding in
- quantity
- assembly
- duplication
- formation
- formation in
- branching morphogenesis in
- positioning in
- positioning
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- ciliary transition zone
- cytoplasmic vesicle membrane
- cilia
- cell surface
- cell borders
- centrosome
- Endoplasmic Reticulum
- axonemes
- primary cilia
- endoplasmic reticulum membrane
- photoreceptor outer segments
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM67 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- negative regulation of centrosome duplication
- non-canonical Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytoplasmic vesicle membrane
- centrosome
- cilium membrane
- ciliary transition zone
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- unfolded protein binding
- filamin binding