WFS1
Wolframin
Protein Summary
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
- ENST00000226760
- ENSP00000226760
- ENSG00000109501
- ENST00000503569
- ENSP00000423337
- WFS
- WFRS
- WFSL
- CTRCT41
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
biological process | 0.99 | ||
disease perturbation | 0.83 | ||
biological term | 0.77 | ||
phenotype | 0.77 | ||
transcription factor perturbation | 0.68 | ||
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: 428.83 (req: < 5)
Gene RIFs: 152 (req: <= 3)
Antibodies: 145 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 428.83 (req: >= 5)
Gene RIFs: 152 (req: > 3)
Antibodies: 145 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 34
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