Evc Gene Summary [Mouse]

Involved in endochondral bone growth and positive regulation of smoothened signaling pathway. Located in ciliary basal body and ciliary membrane. Part of plasma membrane protein complex. Is expressed in several structures, including aorta; heart; nose; skeleton; and vibrissa. Used to study Ellis-Van Creveld syndrome. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; Weyers acrofacial dysostosis; and ventricular septal defect. Orthologous to human EVC (EvC ciliary complex subunit 1). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Evc
Official Name
EvC ciliary complex subunit 1 [Source:MGI Symbol;Acc:MGI:1890596]
Ensembl ID
ENSMUSG00000029122
Bio databases IDs NCBI: 59056 Ensembl: ENSMUSG00000029122
Aliases EvC ciliary complex subunit 1
Synonyms DWF-1, EVC1, EvC ciliary complex subunit 1, EVCL, LOC102553032, LOC102723901
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 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.
disease
  • Ellis-van Creveld syndrome
  • Weyers acrodental dysostosis
  • short-rib thoracic dysplasia type 6
  • EVC-related disorder
  • osteonecrosis
  • diabetic peripheral neuropathy
regulated by
regulates

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 mouse 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

Gene-Specific Assays for Results You Can Trust

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