D630045J12Rik Gene Summary [Mouse]
Located in photoreceptor connecting cilium. Is expressed in several structures, including central nervous system; dorsal root ganglion; retina; tooth; and trachea cartilaginous ring. Human ortholog(s) of this gene implicated in retinitis pigmentosa 86. Orthologous to human KIAA1549 (KIAA1549). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | D630045J12Rik |
| Official Name | RIKEN cDNA D630045J12 gene [Source:MGI Symbol;Acc:MGI:2669829] |
| Ensembl ID | ENSMUSG00000063455 |
| Bio databases IDs | |
| Aliases | RIKEN cDNA D630045J12 gene |
| Synonyms | D630045J12Rik, KIAA1549 homolog, LOC286025, mKIAA1549, RGD1306271, RIKEN, RIKEN cDNA D630045J12 gene, RP86 |
| 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 D630045j12rik often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF3827)
- Family of unknown function (DUF5585)
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- retinal dystrophy
- retinitis pigmentosa type 86
- nonalcoholic fatty liver disease
- astrocytoma
- glioma formation
- Hutchinson-Gilford progeria syndrome
- retinitis pigmentosa
regulated by
- SNX27
- Retromer
role in cell
- accumulation in
- accumulation
- morphology
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
- connecting cilia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse D630045j12rik gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding