Protein Summary
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]
- ENST00000367002
- ENSP00000355969
- ENSG00000198570
- C1orf36
- LCA12
- C1orf36
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
IDG Development Level Summary
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)
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
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
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)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (74)
NBEA
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
Novelty: 0.00093369
p_int: 0.997762101
p_ni: 0.002237899
Score: 0.199
Data Source: BioPlex,STRINGDB
NDUFAF7
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
Novelty: 0.02008523
p_int: 0.827630474
p_ni: 0.17230214
p_wrong: 0.000067386
Score: 0.17
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets
Pathways (0)
Viral Interactions (0)
Gene Ontology Terms (3)
Processes (3)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-KW | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-KW | |||
Disease Associations ()
GWAS Traits (5)
Items per page:
1 – 5 of 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 | |||||
Items per page:
1 – 5 of 5
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
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
Related Publications
Text Mined References (12)
GeneRif Annotations (6)
Items per page:
0 of 0
PMID | Year | Title |
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