| Tbio | GPI mannosyltransferase 2 |
Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.
This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hyperphosphatasia with Mental Retardation | 5 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 2.2e-07 |
| osteosarcoma | 7950 | 2.0e-06 |
| hepatocellular carcinoma | 547 | 2.2e-06 |
| tuberculosis | 2010 | 1.3e-03 |
| medulloblastoma, large-cell | 6241 | 1.8e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 1016 | 4.409 | 2.2 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Imperforate anus | 25 | 3.856 | 1.9 |
| Infantile hypophosphatasia | 5 | 3.845 | 1.9 |
| Hirschsprung's disease | 46 | 3.694 | 1.8 |
| Disease | Target Count |
|---|---|
| Hyperphosphatasia With Mental Retardation Syndrome 1 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| hepatocellular carcinoma | 1.200 | 2.2e-06 |
| medulloblastoma, large-cell | -1.200 | 1.8e-03 |
| osteosarcoma | -2.592 | 2.0e-06 |
| ovarian cancer | -1.200 | 2.2e-07 |
| tuberculosis | -1.200 | 1.3e-03 |
MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLLGGLSHWDAEH 1 - 70 FLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVASLNFLFFMLAAVALHDLGCL 71 - 140 VLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSAMGQLERGRVWTSVLLFAFATGVRSNGLVSV 141 - 210 GFLMHSQCQGFFSSLTMLNPLRQLFKLMASLFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLA 211 - 280 VDKGYRIAEGNEPPWCFWDVPLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHP 281 - 350 WLCLTLGLQRSKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHL 351 - 420 LQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWLLGLLLHCNFL 421 - 490 PWT 491 - 493 //
