TMCO1
Calcium load-activated calcium channel
Protein Summary
Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239). This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
- ENST00000392129
- ENSP00000375975
- ENSG00000143183
- TMCC4
- PCIA3
- TMCC4
- HP10122
- PNAS-136
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
disease perturbation | 1 | ||
transcription factor binding site profile | 0.93 | ||
histone modification site profile | 0.9 | ||
kinase perturbation | 0.66 | ||
tissue sample | 0.62 | ||
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: 31.06 (req: < 5)
Gene RIFs: 18 (req: <= 3)
Antibodies: 50 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 31.06 (req: >= 5)
Gene RIFs: 18 (req: > 3)
Antibodies: 50 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 4
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