Gephyrin (GPHN)
Homo sapiens — UniProt Q9NQX3
Data last refreshed: (UniProt release unknown)
Key facts
Gephyrin (GPHN) is a protein from Homo sapiens identified by UniProt accession Q9NQX3, 736 residues long. MolForge cross-references it against 0 known binders and 250 disease associations.
- UniProt accession: Q9NQX3; gene symbol GPHN.
- Organism: Homo sapiens.
- Length: 736 amino acids.
- Top disease associations (Open Targets): sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, encephalopathy due to sulfite oxidase deficiency and hereditary hyperekplexia.
- 3D structure: AlphaFold model available.
Target properties
| Protein name | Gephyrin |
|---|---|
| UniProt accession | Q9NQX3 |
| Gene | GPHN |
| Organism | Homo sapiens |
| Length | 736 residues |
| Molecular weight | — |
| EC numbers | — |
| Target class | — |
| Subcellular location | — |
| Keywords | — |
Druggability
Target tractability assessment (Open Targets + pocket analysis). No approved drug
| Druggability tier | MEDIUM |
|---|---|
| Druggability score | — |
| Pocket score | — |
| Max clinical phase | — |
Disease associations (250)
Diseases linked to this target (Open Targets).
- sulfite oxidase deficiency due to molybdenum cofactor deficiency type C · score 0.77
- encephalopathy due to sulfite oxidase deficiency · score 0.55
- hereditary hyperekplexia · score 0.48
- developmental and epileptic encephalopathy · score 0.37
- Seizure · score 0.29
- Intellectual disability · score 0.27
- high density lipoprotein cholesterol measurement · score 0.23
- melanoma · score 0.19
- clear cell renal carcinoma · score 0.19
- genetic disorder · score 0.19
3D Structure (1)
Experimental (PDB) and predicted (AlphaFold) structures for this protein.
| Structure | Source | Method | Mean pLDDT | Resolution (Å) |
|---|---|---|---|---|
| AF-Q9NQX3-F1 | alphafold | PREDICTED | 83.80 | — |
Experimental structures are not indexed in MolForge yet — search RCSB PDB for Q9NQX3.
Amino-acid sequence (736 residues)
Frequently asked questions
Answers are generated from the structured data on this page, not written by hand.
Which diseases are associated with GPHN?
The strongest Open Targets associations for GPHN are sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, encephalopathy due to sulfite oxidase deficiency, hereditary hyperekplexia, developmental and epileptic encephalopathy and Seizure.
How long is the GPHN protein?
The Homo sapiens GPHN protein (UniProt Q9NQX3) is 736 amino acids long.
Browse: Targets: G · all protein targets A–Z · drugs A–Z.
Sources
- UniProtKB Q9NQX3 — name, gene, function, sequence, keywords (CC BY 4.0)
- AlphaFold DB Q9NQX3 — predicted 3D structure (CC BY 4.0)
- Open Targets Platform — disease associations and tractability (CC0)
How this page is built: methodology · editorial policy & corrections.
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