Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about USH2A: 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.
| Gene Symbol | USH2A |
| Full Name | Usherin |
| Chromosome | 1q41 |
| Protein Type | Protein |
| Function | The protein localizes to the photoreceptor outer segments where it participates in disc membrane maintenance. |
| Primary Expression | different tissues |
| Molecular Weight | 171 kDa |
| Amino Acids | 600 aa |
| Exons | 72 |
| UniProt ID | [Q9NZU7](https://www.uniprot.org/uniprot/Q9NZU7) |
| NCBI Gene ID | 7399 |
| Ensembl ID | ENSG00000042781 |
| OMIM | 608400 |
| GeneCards | USH2A |
| Human Protein Atlas | USH2A |
| Associated Diseases | neurodegeneration |
| Interactions | IL6, ANGPTL4, ITGB8, PKM2, APOE, ADAM17 |
| KG Connections | 30 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
USH2A["<b>USH2A</b>"]
APOE(["APOE"])
USH2A -->|"associated_with"| APOE
EPHB4(["EPHB4"])
USH2A -->|"associated_with"| EPHB4
IL6(["IL6"])
USH2A -->|"associated_with"| IL6
ADAM17(["ADAM17"])
USH2A -->|"associated_with"| ADAM17
TGFB(["TGFB"])
USH2A -->|"associated_with"| TGFB
ANGPTL4(["ANGPTL4"])
USH2A -->|"associated_with"| ANGPTL4
ITGB8(["ITGB8"])
ITGB8 -->|"associated_with"| USH2A
IL1B(["IL1B"])
IL1B -->|"associated_with"| USH2A
TNFA(["TNFA"])
TNFA -->|"associated_with"| USH2A
style USH2A fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#4fc3f7| Target | Relation | Type | Str |
|---|---|---|---|
| Retinitis Pigmentosa | risk_factor_for | disease | 0.85 |
| APOE | associated_with | gene | 0.60 |
| EPHB4 | associated_with | gene | 0.60 |
| IL6 | associated_with | gene | 0.60 |
| ADAM17 | associated_with | gene | 0.60 |
| TNFA | associated_with | gene | 0.60 |
| IL1B | associated_with | gene | 0.60 |
| TGFB | associated_with | gene | 0.60 |
| ANGPTL4 | associated_with | gene | 0.60 |
| ITGB8 | associated_with | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| IL1B | associated_with | gene | 0.60 |
| TNFA | associated_with | gene | 0.60 |
| IL6 | associated_with | gene | 0.60 |
| APOE | associated_with | gene | 0.60 |
| EPHB4 | associated_with | gene | 0.60 |
| ADAM17 | associated_with | gene | 0.60 |
| IL6 | interacts_with | gene | 0.60 |
| ITGB8 | associated_with | gene | 0.60 |
| GENES | associated_with | gene | 0.60 |
| AND | associated_with | gene | 0.60 |
| ANGPTL4 | associated_with | gene | 0.60 |
| TGFB | associated_with | gene | 0.60 |
| ANGPTL4 | interacts_with | gene | 0.60 |
| ITGB8 | interacts_with | gene | 0.60 |
| PKM2 | interacts_with | gene | 0.60 |
| APOE | interacts_with | gene | 0.50 |
| ADAM17 | interacts_with | protein | 0.50 |
| IL1B | interacts_with | gene | 0.50 |
| TNFA | interacts_with | gene | 0.50 |
| EPHB4 | interacts_with | gene | 0.50 |
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 | ||||