| Tbio | Junctophilin-3 |
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Colorectal Neoplasms | 243 | 0.0 | 0.0 |
| HUNTINGTON DISEASE-LIKE 2 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| oligodendroglioma | 2850 | 3.7e-09 |
| atypical teratoid / rhabdoid tumor | 5112 | 4.3e-09 |
| glioblastoma | 5792 | 3.3e-08 |
| Astrocytoma, Pilocytic | 3081 | 2.3e-05 |
| primitive neuroectodermal tumor | 3035 | 3.0e-04 |
| adult high grade glioma | 3801 | 1.6e-03 |
| medulloblastoma, large-cell | 6241 | 3.3e-03 |
| group 3 medulloblastoma | 4104 | 5.9e-03 |
| astrocytic glioma | 2597 | 9.6e-03 |
| ependymoma | 4679 | 2.6e-02 |
| subependymal giant cell astrocytoma | 2287 | 4.9e-02 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.800 | 1.6e-03 |
| astrocytic glioma | -1.800 | 9.6e-03 |
| Astrocytoma, Pilocytic | -1.700 | 2.3e-05 |
| atypical teratoid / rhabdoid tumor | -1.600 | 4.3e-09 |
| ependymoma | -3.200 | 2.6e-02 |
| glioblastoma | -1.600 | 3.3e-08 |
| group 3 medulloblastoma | -2.200 | 5.9e-03 |
| medulloblastoma, large-cell | -1.300 | 3.3e-03 |
| oligodendroglioma | -1.900 | 3.7e-09 |
| primitive neuroectodermal tumor | -1.400 | 3.0e-04 |
| subependymal giant cell astrocytoma | -1.345 | 4.9e-02 |
MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNTYQGTWAQGKR 1 - 70 HGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYGTETYSDGGTYQGQWVGGMRQ 71 - 140 GYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPDASPAVAGSPAVSRGGFVLVAHSDSEILKSK 141 - 210 KKGLFRRSLLSGLKLRKSESKSSLASQRSKQSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDI 211 - 280 DATTTETYVGEWKNDKRSGFGVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKN 281 - 350 LIPLRASKIREKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS 351 - 420 PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSFPTSPAATPPP 421 - 490 APAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSRGVRSGALRGGLLVDDFRTRG 491 - 560 SGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRLLELQEEKLSNYRMEMKPLLRMETHPQKRRY 561 - 630 SKGGACRGLGDDHRPEDRGFGVQRLRSKAQNKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPP 631 - 700 QKSLPVALESDEENGDELKSSTGSAPILVVMVILLNIGVAILFINFFI 701 - 748 //
