NHS
Nance-Horan syndrome protein
Protein Summary
May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development. This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
- ENST00000380060
- ENSP00000369400
- ENSG00000188158
- ENST00000398097
- ENSP00000381170
- CXN
- SCML1
- CTRCT40
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
ligand (protein) perturbation | 0.83 | ||
microRNA | 0.79 | ||
cellular component | 0.68 | ||
transcription factor | 0.68 | ||
tissue sample | 0.61 | ||
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: 57.74 (req: < 5)
Gene RIFs: 24 (req: <= 3)
Antibodies: 24 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 57.74 (req: >= 5)
Gene RIFs: 24 (req: > 3)
Antibodies: 24 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 2
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