Protein Summary
May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
- ENST00000285071
- ENSP00000285071
- ENSG00000154803
- ENST00000389169
- ENSP00000373821
- BHD
- BHD
- FLCL
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
biological process | 0.99 | ||
disease perturbation | 0.96 | ||
histone modification site profile | 0.92 | ||
interacting protein | 0.81 | ||
transcription factor binding site profile | 0.81 | ||
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: 338.04 (req: < 5)
Gene RIFs: 108 (req: <= 3)
Antibodies: 285 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 338.04 (req: >= 5)
Gene RIFs: 108 (req: > 3)
Antibodies: 285 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 32
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