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Tbio
RD3
Protein RD3

Protein Summary
Description
This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000367002
  • ENSP00000355969
  • ENSG00000198570

Symbol
  • C1orf36
  • LCA12
  • C1orf36
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cellular component
0.68
cell line
0.64
microRNA
0.61
chemical
0.41
disease
0.41


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: 150.76   (req: < 5)
Gene RIFs: 6   (req: <= 3)
Antibodies: 62   (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: 150.76   (req: >= 5)
Gene RIFs: 6   (req: > 3)
Antibodies: 62   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
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
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
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 (74)
NBEA
Tbio
Novelty:  0.02583687
p_int:  0.999999288
p_ni:  6.48e-7
p_wrong:  6.4e-8
Score:  0.261
Data Source:  BioPlex,STRINGDB
LRBA
Tbio
Novelty:  0.00093369
p_int:  0.997762101
p_ni:  0.002237899
Score:  0.199
Data Source:  BioPlex,STRINGDB
NDUFAF7
Tbio
Family:  Enzyme
Novelty:  0.24691414
p_int:  0.986800551
p_ni:  0.004952054
p_wrong:  0.008247395
Score:  0.196
Data Source:  BioPlex,STRINGDB
GNAZ
Tbio
Novelty:  0.02008523
p_int:  0.827630474
p_ni:  0.17230214
p_wrong:  0.000067386
Score:  0.17
Data Source:  BioPlex,STRINGDB
PRPH2
Tbio
Novelty:  0.003038
Score:  0.862
Data Source:  STRINGDB
SPATA7
Tbio
Novelty:  0.07689485
Score:  0.826
Data Source:  STRINGDB
PDE6B
Tclin
Family:  Enzyme
Novelty:  0.001105
Score:  0.811
Data Source:  STRINGDB
EIF2B1
Tbio
Novelty:  0.02520554
Score:  0.798
Data Source:  STRINGDB
LCA5
Tbio
Novelty:  0.0379066
Score:  0.797
Data Source:  STRINGDB
AIPL1
Tbio
Novelty:  0.01436649
Score:  0.735
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (5)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intelligence
3
4
3
5.6
69.2
self reported educational attainment
3
3
3
5.6
65.5
1
1
1
13.2
1
1
0
1.2
4.8
nevus count
1
1
1
0.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intelligence
3
5.6
69.2
self reported educational attainment
3
5.6
65.5
1
13.2
0
1.2
4.8
nevus count
1
0.9
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
retinal degeneration 3
VGNC:1489
745866
Mouse
MGI:1921273
74023
Rat
RGD:1593897
684158
Dog
retinal degeneration 3
609870
Horse
retinal degeneration 3
VGNC:22278
100054943
Species
Name
OMA
EggNOG
Inparanoid
Chimp
retinal degeneration 3
Mouse
Rat
Dog
retinal degeneration 3
Horse
retinal degeneration 3
Publication Statistics
PubMed Score 150.76
PubMed score by year
PubTator Score 49.12
PubTator score by year
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Related Publications
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PMID
Year
Title