2700049A03Rik Gene Summary [Mouse]
Involved in cilium assembly and smoothened signaling pathway. Located in centrosome. Is expressed in embryo. Human ortholog(s) of this gene implicated in Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly. Orthologous to human KIAA0586 (KIAA0586). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | 2700049A03Rik |
| Official Name | RIKEN cDNA 2700049A03 gene [Source:MGI Symbol;Acc:MGI:1924217] |
| Ensembl ID | ENSMUSG00000034601 |
| Bio databases IDs | |
| Aliases | RIKEN cDNA 2700049A03 gene |
| Synonyms | 2700049A03Rik, JBTS23, KIAA0586 homolog, mKIAA0586, RGD1311562, RIKEN cDNA 2700049A03 gene, SRTD14, Ta3, Talpid3 |
| 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 2700049a03rik 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
- Hedgehog signalling target
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Jeune syndrome
- joubert syndrome type 23
- hereditary disorder
- neurodevelopmental disorder
- Joubert syndrome related disorder
- ciliopathy
- Joubert syndrome type 1
- retinal dystrophy
- short-rib thoracic dysplasia type 14 with polydactyly
- Cogan-type congenital oculomotor apraxia
role in cell
- migration
- proliferation
- formation
- anchoring
- assembly
- abnormal morphology
- lack
- mislocalization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- basal bodies
- centrosome
- centriole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse 2700049a03rik gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- smoothened signaling pathway
- regulation of establishment of protein localization
Cellular Component
Where in the cell the gene product is active
- centrosome
- cytoplasm
- cilium basal body
- centriole
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- protein binding