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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 ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000313663
  • ENSP00000323339
  • ENSG00000168014
  • ENST00000334126
  • ENSP00000334379

Symbol
  • OFD14
Illumination Graph
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: 6   (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: 6   (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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (137)
OFD1
Tbio
Novelty:  0.01032841
Score:  0.985
Data Source:  STRINGDB
CEP83
Tdark
Novelty:  0.15704554
Score:  0.971
Data Source:  STRINGDB
SCLT1
Tbio
Novelty:  0.10969171
Score:  0.968
Data Source:  STRINGDB
CEP164
Tbio
Novelty:  0.04775724
Score:  0.965
Data Source:  STRINGDB
CEP89
Tbio
Novelty:  0.17461805
Score:  0.963
Data Source:  STRINGDB
TTBK2
Tbio
Family:  Kinase
Novelty:  0.03262289
Score:  0.959
Data Source:  STRINGDB
TCTN3
Tbio
Novelty:  0.24504659
Score:  0.957
Data Source:  STRINGDB
NPHP4
Tbio
Novelty:  0.02873746
Score:  0.956
Data Source:  STRINGDB
CEP41
Tbio
Novelty:  0.29561674
Score:  0.956
Data Source:  STRINGDB
FBF1
Tbio
Novelty:  0.0409747
Score:  0.955
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (5)
Anchoring of the basal body to the plasma membrane (R-HSA-5620912)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Anchoring of the basal body to the plasma membrane
Reactome
Cilium Assembly
Reactome
Organelle biogenesis and maintenance
Name
Explore in Pharos
Explore in Source
Anchoring of the basal body to the plasma membrane
Cilium Assembly
Organelle biogenesis and maintenance
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
brain measurement
1
1
0
7.3
47.2
blood protein measurement
1
1
1
42.6
mean platelet volume
2
1
2
7.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
brain measurement
0
7.3
47.2
blood protein measurement
1
42.6
mean platelet volume
2
7.1
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
C2 calcium dependent domain containing 3
VGNC:10395
451417
Macaque
C2 calcium dependent domain containing 3
718842
Mouse
MGI:2142166
277939
Rat
RGD:1307366
293148
Horse
C2 calcium dependent domain containing 3
VGNC:15950
100065345
Species
Name
OMA
EggNOG
Inparanoid
Chimp
C2 calcium dependent domain containing 3
Macaque
C2 calcium dependent domain containing 3
Mouse
Rat
Horse
C2 calcium dependent domain containing 3
Publication Statistics
PubMed Score 10.79
PubMed score by year
PubTator Score 7.13
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title