C2cd3 Gene Summary [Mouse]

Involved in centriole elongation. Acts upstream of or within several processes, including chordate embryonic development; embryonic morphogenesis; and protein localization to centrosome. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including alimentary system mesenchyme; brain; face; oral epithelium; and perichondrium. Human ortholog(s) of this gene implicated in orofaciodigital syndrome XIV. Orthologous to human C2CD3 (C2 domain containing 3 centriole elongation regulator). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
C2cd3
Official Name
C2 calcium-dependent domain containing 3 [Source:MGI Symbol;Acc:MGI:2142166]
Ensembl ID
ENSMUSG00000047248
Bio databases IDs NCBI: 277939 Ensembl: ENSMUSG00000047248
Aliases C2 calcium-dependent domain containing 3
Synonyms C2 calcium-dependent domain containing 3, C2 domain containing 3 centriole elongation regulator, LOC277939, OFD14, RGD1307366
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 C2cd3 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
  • Protein kinase C conserved region 2 (CalB)
  • C2 domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
  • orofaciodigital syndrome type 14
  • Joubert syndrome type 1
regulated by
role in cell
  • assembly
  • elongation
  • docking in
  • maturation
  • docking

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
  • daughter centriole
  • mother centriole
  • centriolar satellite
  • basal bodies
  • centrosome
  • centriole
  • cytosol
  • centriolar appendages

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse C2cd3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • neural tube development
  • cilium morphogenesis
  • in utero embryonic development
  • regulation of proteolysis
  • heart looping
  • protein processing
  • neural plate axis specification
  • brain development
  • protein localization to centrosome
  • regulation of smoothened signaling pathway
  • embryonic digit morphogenesis

Cellular Component

Where in the cell the gene product is active
  • centrosome
  • centriole
  • cilium basal body
  • centriolar satellite
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.