| Tbio | Anoctamin-6 |
Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes.
This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Liver Cirrhosis, Experimental | 769 | 0.0 | 0.0 |
| Scott Syndrome | 1 | 0.0 | 0.0 |
| Spondylitis, Ankylosing | 11 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2843 | 7.9e-15 |
| Astrocytoma, Pilocytic | 3081 | 3.3e-11 |
| ependymoma | 4679 | 3.7e-10 |
| lung adenocarcinoma | 2716 | 6.7e-10 |
| oligodendroglioma | 2850 | 2.5e-09 |
| ovarian cancer | 8520 | 3.5e-08 |
| glioblastoma | 5792 | 6.0e-08 |
| adult high grade glioma | 3801 | 4.8e-05 |
| atypical teratoid / rhabdoid tumor | 5112 | 7.1e-05 |
| sonic hedgehog group medulloblastoma | 467 | 6.2e-04 |
| ductal carcinoma in situ | 1745 | 1.1e-03 |
| invasive ductal carcinoma | 2951 | 1.6e-03 |
| pancreatic cancer | 2398 | 2.5e-03 |
| osteosarcoma | 7950 | 5.9e-03 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 7.2e-03 |
| subependymal giant cell astrocytoma | 2287 | 2.2e-02 |
| astrocytic glioma | 2597 | 2.6e-02 |
| active ulcerative colitis | 764 | 2.8e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Ankylosing spondylitis | 140 | 0.0 | 3.0 |
| Cardiovascular system disease | 246 | 0.0 | 2.7 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Teratoma | 8 | 5.221 | 2.6 |
| Sertoli cell tumor | 9 | 4.27 | 2.1 |
| Polyhydramnios | 108 | 3.587 | 1.8 |
| Vertebrobasilar insufficiency | 9 | 3.214 | 1.6 |
| Pancreatoblastoma | 2 | 3.123 | 1.6 |
| Sex cord-gonadal stromal tumor | 2 | 3.015 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| active ulcerative colitis | 2.954 | 2.8e-02 |
| adult high grade glioma | 1.800 | 4.8e-05 |
| astrocytic glioma | 1.400 | 2.6e-02 |
| Astrocytoma, Pilocytic | 2.500 | 3.3e-11 |
| atypical teratoid / rhabdoid tumor | 1.300 | 7.1e-05 |
| ductal carcinoma in situ | -1.200 | 1.1e-03 |
| ependymoma | 1.500 | 3.7e-10 |
| glioblastoma | 1.600 | 6.0e-08 |
| invasive ductal carcinoma | -1.800 | 1.6e-03 |
| lung adenocarcinoma | -1.200 | 6.7e-10 |
| lung carcinoma | -2.000 | 7.9e-15 |
| oligodendroglioma | 1.100 | 2.5e-09 |
| osteosarcoma | 1.135 | 5.9e-03 |
| ovarian cancer | -1.900 | 3.5e-08 |
| pancreatic cancer | 1.200 | 2.5e-03 |
| pancreatic ductal adenocarcinoma liver m... | -1.388 | 7.2e-03 |
| sonic hedgehog group medulloblastoma | 1.300 | 6.2e-04 |
| subependymal giant cell astrocytoma | 1.816 | 2.2e-02 |
MKKMSRNVLLQMEEEEDDDDGDIVLENLGQTIVPDLGSLESQHDFRTPEFEEFNGKPDSLFFNDGQRRID 1 - 70 FVLVYEDESRKETNKKGTNEKQRRKRQAYESNLICHGLQLEATRSVLDDKLVFVKVHAPWEVLCTYAEIM 71 - 140 HIKLPLKPNDLKNRSSAFGTLNWFTKVLSVDESIIKPEQEFFTAPFEKNRMNDFYIVDRDAFFNPATRSR 141 - 210 IVYFILSRVKYQVINNVSKFGINRLVNSGIYKAAFPLHDCKFRRQSEDPSCPNERYLLYREWAHPRSIYK 211 - 280 KQPLDLIRKYYGEKIGIYFAWLGYYTQMLLLAAVVGVACFLYGYLNQDNCTWSKEVCHPDIGGKIIMCPQ 281 - 350 CDRLCPFWKLNITCESSKKLCIFDSFGTLVFAVFMGVWVTLFLEFWKRRQAELEYEWDTVELQQEEQARP 351 - 420 EYEARCTHVVINEITQEEERIPFTAWGKCIRITLCASAVFFWILLIIASVIGIIVYRLSVFIVFSAKLPK 421 - 490 NINGTDPIQKYLTPQTATSITASIISFIIIMILNTIYEKVAIMITNFELPRTQTDYENSLTMKMFLFQFV 491 - 560 NYYSSCFYIAFFKGKFVGYPGDPVYWLGKYRNEECDPGGCLLELTTQLTIIMGGKAIWNNIQEVLLPWIM 561 - 630 NLIGRFHRVSGSEKITPRWEQDYHLQPMGKLGLFYEYLEMIIQFGFVTLFVASFPLAPLLALVNNILEIR 631 - 700 VDAWKLTTQFRRLVPEKAQDIGAWQPIMQGIAILAVVTNAMIIAFTSDMIPRLVYYWSFSVPPYGDHTSY 701 - 770 TMEGYINNTLSIFKVADFKNKSKGNPYSDLGNHTTCRYRDFRYPPGHPQEYKHNIYYWHVIAAKLAFIIV 771 - 840 MEHVIYSVKFFISYAIPDVSKRTKSKIQREKYLTQKLLHENHLKDMTKNMGVIAERMIEAVDNNLRPKSE 841 - 910 //
