Evc2 Gene Summary [Mouse]
Involved in smoothened signaling pathway. Located in ciliary membrane and nucleus. Part of plasma membrane protein complex. Is expressed in several structures, including bone; heart; jaw; nose; and paranasal sinus. Used to study Ellis-Van Creveld syndrome. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis. Orthologous to human EVC2 (EvC ciliary complex subunit 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Evc2 |
| Official Name | EvC ciliary complex subunit 2 [Source:MGI Symbol;Acc:MGI:1915775] |
| Ensembl ID | ENSMUSG00000050248 |
| Bio databases IDs | |
| Aliases | EvC ciliary complex subunit 2 |
| Synonyms | 1110017L09Rik, EvC ciliary complex subunit 2, LBN, limbin, WAD |
| 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 Evc2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- exonuclease SbcC
- protein binding
- Ellis van Creveld protein 2 like protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Ellis-van Creveld syndrome
- hereditary disorder
- Jeune syndrome
- short-rib thoracic dysplasia type 6
- Weyers acrodental dysostosis
- myopathy
- paralytic ileus
- Meckel syndrome
- short rib-polydactyly syndrome type 4
role in cell
- differentiation
- replication in
- function
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
- cilia
- cellular membrane
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Evc2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- smoothened signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoskeleton
- cytoplasm
- cilium
- cilium membrane