| Tchem | Transient receptor potential cation channel subfamily V member 6 |
Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (PubMed:11097838, PubMed:11278579, PubMed:11248124 PubMed:15184369, PubMed:23612980). Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification (PubMed:15184369). Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating.
This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Polycystic ovary syndrome | 360 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 5112 | 3.8e-06 |
| ovarian cancer | 8520 | 2.6e-05 |
| medulloblastoma, large-cell | 6241 | 4.1e-05 |
| glioblastoma | 5792 | 4.3e-05 |
| adult high grade glioma | 3801 | 1.8e-04 |
| psoriasis | 6694 | 7.7e-04 |
| cutaneous lupus erythematosus | 1057 | 1.2e-03 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 3.5e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 2.1e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cri-Du-Chat syndrome | 16 | 7.385 | 3.7 |
| Microcephaly | 166 | 4.104 | 2.1 |
| Corneal staphyloma | 5 | 3.712 | 1.9 |
| Hypervitaminosis D | 8 | 3.68 | 1.8 |
| Intellectual disability | 1016 | 3.607 | 1.8 |
| Rickets | 49 | 3.427 | 1.7 |
| Schnyder Corneal Dystrophy | 23 | 3.235 | 1.6 |
| Osteoporosis | 363 | 3.205 | 1.6 |
| Osmotic diarrhea | 3 | 3.086 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.700 | 1.8e-04 |
| atypical teratoid / rhabdoid tumor | -1.400 | 3.8e-06 |
| cutaneous lupus erythematosus | -1.500 | 1.2e-03 |
| glioblastoma | -1.500 | 4.3e-05 |
| intraductal papillary-mucinous adenoma (... | -1.400 | 3.5e-03 |
| intraductal papillary-mucinous neoplasm ... | -1.500 | 2.1e-02 |
| medulloblastoma, large-cell | -1.600 | 4.1e-05 |
| ovarian cancer | -1.200 | 2.6e-05 |
| psoriasis | -1.300 | 7.7e-04 |
MGPLQGDGGPALGGADVAPRLSPVRVWPRPQAPKEPALHPMGLSLPKEKGLILCLWSKFCRWFQRRESWA 1 - 70 QSRDEQNLLQQKRIWESPLLLAAKDNDVQALNKLLKYEDCKVHQRGAMGETALHIAALYDNLEAAMVLME 71 - 140 AAPELVFEPMTSELYEGQTALHIAVVNQNMNLVRALLARRASVSARATGTAFRRSPCNLIYFGEHPLSFA 141 - 210 ACVNSEEIVRLLIEHGADIRAQDSLGNTVLHILILQPNKTFACQMYNLLLSYDRHGDHLQPLDLVPNHQG 211 - 280 LTPFKLAGVEGNTVMFQHLMQKRKHTQWTYGPLTSTLYDLTEIDSSGDEQSLLELIITTKKREARQILDQ 281 - 350 TPVKELVSLKWKRYGRPYFCMLGAIYLLYIICFTMCCIYRPLKPRTNNRTSPRDNTLLQQKLLQEAYMTP 351 - 420 KDDIRLVGELVTVIGAIIILLVEVPDIFRMGVTRFFGQTILGGPFHVLIITYAFMVLVTMVMRLISASGE 421 - 490 VVPMSFALVLGWCNVMYFARGFQMLGPFTIMIQKMIFGDLMRFCWLMAVVILGFASAFYIIFQTEDPEEL 491 - 560 GHFYDYPMALFSTFELFLTIIDGPANYNVDLPFMYSITYAAFAIIATLLMLNLLIAMMGDTHWRVAHERD 561 - 630 ELWRAQIVATTVMLERKLPRCLWPRSGICGREYGLGDRWFLRVEDRQDLNRQRIQRYAQAFHTRGSEDLD 631 - 700 KDSVEKLELGCPFSPHLSLPMPSVSRSTSRSSANWERLRQGTLRRDLRGIINRGLEDGESWEYQI 701 - 765 //
