Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about CEP290: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
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| Gene Symbol | CEP290 |
| Full Name | Centrosomal Protein 290 |
| Chromosome | 12q21.32 |
| Function | encodes a massive centrosomal protein localized to the centrosome and ciliary transition zone. |
| Subcellular Localization | the centrosome and ciliary transition zone. With a molecular weight of approximately 290 kDa, CEP290 is one of the large |
| Molecular Weight | 290 kDa |
| Amino Acids | 479 aa |
| UniProt ID | Q5HYJ4 |
| NCBI Gene ID | 27002 |
| Ensembl ID | ENSG00000148377 |
| OMIM | 613037 |
| GeneCards | CEP290 |
| Human Protein Atlas | CEP290 |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
flowchart TD
A["Upstream Regulators"] --> B["CEP290"]
B --> C["Molecular Mechanism"]
C --> D["Cellular Effects"]
D --> E["Pathological Consequences"]| Target | Relation | Type | Str |
|---|---|---|---|
| No outgoing edges | |||
| Source | Relation | Type | Str |
|---|---|---|---|
| No incoming edges | |||
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||