Tbio C2CD3 C2 domain-containing protein 3

Protein Summary

Description

Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3. 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]

Uniprot Accession IDs

• Q4AC94
• C9JR55
• E2QRD1
• Q2NLE1
• Q3C1U9
• Q6ZU92
• Q8IYM4
• Q8NB87
• Q8NDH7
• Q9Y4M2

Gene Name

• C2CD3

Ensembl ID

• ENST00000313663
• ENSP00000323339
• ENSG00000168014
• ENST00000334126
• ENSP00000334379

Symbol

• OFD14

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor binding site profile	0.92
histone modification site profile	0.89
kinase perturbation	0.84
cell line	0.71
transcription factor	0.7

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 10.79   (req: < 5)

Gene RIFs: 8   (req: <= 3)

Antibodies: 131   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 10.79   (req: >= 5)

Gene RIFs: 8   (req: > 3)

Antibodies: 131   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0