EVC Gene Summary [Human]
This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EVC |
| Official Name | EvC ciliary complex subunit 1 [Source:HGNC Symbol;Acc:HGNC:3497] |
| Ensembl ID | ENSG00000072840 |
| Bio databases IDs | |
| Aliases | EvC ciliary complex subunit 1 |
| Synonyms | DWF-1, EVC1, EvC ciliary complex subunit 1, EVCL, LOC102553032, LOC102723901 |
| 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 EVC 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
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.
- Cytoplasm
- cilia
- basal bodies
- centriole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EVC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- skeletal system development
- endochondral bone growth
- positive regulation of smoothened signaling pathway
- smoothened signaling pathway
- cartilage development
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cilium basal body
- cilium
- cilium membrane