| Tbio | Calcium homeostasis modulator protein 1 |
Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner.
This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]
This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Urinary Bladder Neoplasms | 114 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Bladder Neoplasm | 112 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 3.9e-07 |
| ovarian cancer | 8520 | 1.5e-04 |
| diabetes mellitus | 1728 | 1.1e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alzheimer's disease | 658 | 4.316 | 2.2 |
| Disease | log2 FC | p |
|---|---|---|
| diabetes mellitus | 1.100 | 1.1e-03 |
| osteosarcoma | 1.345 | 3.9e-07 |
| ovarian cancer | -1.100 | 1.5e-04 |
MMDKFRMIFQFLQSNQESFMNGICGIMALASAQMYSAFDFNCPCLPGYNAAYSAGILLAPPLVLFLLGLV 1 - 70 MNNNVSMLAEEWKRPLGRRAKDPAVLRYMFCSMAQRALIAPVVWVAVTLLDGKCFLCAFCTAVPVSALGN 71 - 140 GSLAPGLPAPELARLLARVPCPEIYDGDWLLAREVAVRYLRCISQALGWSFVLLTTLLAFVVRSVRPCFT 141 - 210 QAAFLKSKYWSHYIDIERKLFDETCTEHAKAFAKVCIQQFFEAMNHDLELGHTHGTLATAPASAAAPTTP 211 - 280 DGAEEEREKLRGITDQGTMNRLLTSWHKCKPPLRLGQEEPPLMGNGWAGGGPRPPRKEVATYFSKV 281 - 346 //
