help  | about  | cite  | software

Gene : C2CD3 Homo sapiens

Name  ? C2 domain containing 3 centriole elongation regulator Cytological Location  11q13.4
Brief Description  C2 domain containing 3 centriole elongation regulator
Description  This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
  • synonyms:
  • C2 calcium dependent domain containing 3,
  • C2CD3,
  • OTTHUMG00000168110,
  • OFD14,
  • uc001ouu.4,
  • BC035599,
  • NM_015531,
  • DKFZP586P0123,
  • HGNC:24564
  • identifiers:
  • 26005,
  • ENSG00000168014,
  • C2CD3

Genome feature

Region: gene ? Length: 158633  
Location: 11:74012578-74171210 reverse strand Cyto location: 11q13.4

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SNPs

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results