| URN | urn:agi-llid:219931 |
|---|---|
| Connectivity | 8 |
| Name | Tpcn2 |
| Description | two pore segment channel 2 |
| Notes | This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation. |
| Pathway | calcium transport pathway |
|---|---|
| calcium/calcium-mediated signaling pathway | |
| calcium-calcium-mediated signaling pathway | |
| calcium-calcium-mediated signaling pathway |
| GO Molecular Function | calcium ion binding |
|---|---|
| ion channel activity | |
| voltage-gated ion channel activity | |
| calcium channel activity |
| GO Cellular Component | membrane |
|---|---|
| integral to membrane |
| GO Biological Process | transmembrane transport |
|---|---|
| transport | |
| ion transport | |
| calcium ion transport |
| Ariadne Ontology | Other transport proteins |
|---|
| Group | Other transport proteins |
|---|---|
| transmembrane transport | |
| transport | |
| ion transport | |
| calcium ion transport | |
| calcium ion binding | |
| ion channel activity | |
| voltage-gated ion channel activity | |
| calcium channel activity | |
| membrane | |
| integral to membrane |
| MedScan ID | 219931 |
|---|
| Hugo ID | 20820 |
|---|
| Human chromosome position | 11q13.3 |
|---|
| LocusLink ID | 219931 |
|---|---|
| 233979 |
| Alias | TPC2 |
|---|---|
| SHEP10 | |
| FLJ41094 | |
| two pore calcium channel protein 2 | |
| two-pore calcium channel protein 2 | |
| voltage-dependent calcium channel protein TPC2 | |
| BC025890 | |
| MGC32411 | |
| D830047E22Rik | |
| cDNA sequence BC025890 | |
| D830047E22 | |
| TPCN2 | |
| two pore segment channel 2 | |
| two pore segment channel II | |
| two-pore calcium channel protein II |
| Organism | Homo sapiens |
|---|---|
| Mus musculus |
| OMIM ID | 612163 |
|---|---|
| 612267 |
| Mouse chromosome position | 7 |
|---|
| GO ID | 0005262 |
|---|---|
| 0005244 | |
| 0006816 | |
| 0006811 | |
| 0055085 | |
| 0016021 | |
| 0016020 | |
| 0005216 | |
| 0006810 | |
| 0005509 |
| Swiss-Prot Accession | Q59G56 |
|---|---|
| Q8NHX9 | |
| Q8BWC0 | |
| Q80UQ1 | |
| Q8BLY6 | |
| Q6NSV0 | |
| Q8BTJ7 | |
| Q8R396 | |
| Q9NT82 |
| PIR ID | T46421 |
|---|
| Unigene ID | Hs.131851 |
|---|---|
| Mm.102235 |
| KEGG ID | hsa:219931 |
|---|---|
| mmu:233979 |
| Swiss-Prot ID | TPC2_MOUSE |
|---|---|
| TPC2_HUMAN | |
| Q59G56_HUMAN |
| Cell Localization | Membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00226229 |
|---|---|
| IPI00828406 | |
| IPI00828561 | |
| IPI00169371 | |
| IPI00479924 |
| Homologene ID | 16375 |
|---|
| RGD ID | 1311779 |
|---|
| MGI ID | 2385297 |
|---|