| 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 mental retardation 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 mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Comments
| Disease | Target Count |
|---|---|
| Hyperphosphatasia with Mental Retardation | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7933 | 1.97359003609252E-6 |
| hepatocellular carcinoma | 550 | 2.1893003371518E-6 |
| ovarian cancer | 8492 | 4.34579554638046E-6 |
| tuberculosis and treatment for 3 months | 327 | 1.49818500965766E-5 |
| medulloblastoma, large-cell | 6234 | 0.00178040178916572 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 573 | 4.44 | 2.2 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hirschsprung's disease | 44 | 3.471 | 1.7 |
| Disease | Target Count |
|---|---|
| Hyperphosphatasia with mental retardation syndrome 1 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| hepatocellular carcinoma | 1.200 | 0.000 |
| osteosarcoma | -2.592 | 0.000 |
| medulloblastoma, large-cell | -1.200 | 0.002 |
| tuberculosis and treatment for 3 months | -1.500 | 0.000 |
| ovarian cancer | 1.700 | 0.000 |
| Species | Source |
|---|---|
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| C. elegans | EggNOG Inparanoid |
| Fruitfly | OMA Inparanoid |
| S.cerevisiae | EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 24129430 | Data indicate that mannosyltransferases PIGV mutations are the major cause of hyperphosphatasia-mental retardation syndrome (HPMRS) which displays a broad clinical variability regarding associated malformations and growth patterns. |
| 23694781 | PIGV is the rate-limiting enzyme in GPI biosynthesis under limited dolicholphosphate mannose availability. |
| 22228761 | Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency. |
| 21739589 | novel compound heterozygous mutations in the PIGV gene c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in hyperphosphatasia-mental retardation syndrome |
| 20802478 | PIGV mutations are associated with hyperphosphatasia mental retardation syndrome. |
| 15623507 | PIG-V is the second mannosyltransferase in GPI anchor biosynthesis. |
MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLLGGLSHWDAEH 1 - 70 FLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVASLNFLFFMLAAVALHDLGCL 71 - 140 VLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSAMGQLERGRVWTSVLLFAFATGVRSNGLVSV 141 - 210 GFLMHSQCQGFFSSLTMLNPLRQLFKLMASLFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLA 211 - 280 VDKGYRIAEGNEPPWCFWDVPLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHP 281 - 350 WLCLTLGLQRSKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHL 351 - 420 LQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWLLGLLLHCNFL 421 - 490 PWT 491 - 493 //
| PMID | Year | Title |
|---|---|---|
| 24129430 | 2014 | Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. |
| 24097068 | 2013 | Discovery and refinement of loci associated with lipid levels. |
| 23694781 | 2013 | Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability. |
| 22228761 | 2012 | Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. |
| 21739589 | 2011 | Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. |
| 20802478 | 2010 | Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. |
| 20578257 | 2010 | Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. |
| 16710414 | 2006 | The DNA sequence and biological annotation of human chromosome 1. |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
| 15720390 | 2005 | Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly. |
| More... |
