| Tchem | Neutral alpha-glucosidase AB |
Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053).
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Polycystic Kidney, Autosomal Dominant | 7 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| lung adenocarcinoma | 2716 | 1.1e-10 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.0e-10 |
| glioblastoma | 5792 | 9.7e-08 |
| pediatric high grade glioma | 1064 | 6.0e-07 |
| psoriasis | 6694 | 1.8e-05 |
| Astrocytoma, Pilocytic | 3081 | 3.1e-05 |
| medulloblastoma, large-cell | 6241 | 5.8e-05 |
| lung cancer | 4740 | 6.7e-05 |
| osteosarcoma | 7950 | 1.1e-04 |
| group 4 medulloblastoma | 1855 | 4.8e-04 |
| astrocytoma | 1146 | 4.5e-03 |
| oligodendroglioma | 2850 | 5.3e-03 |
| ependymoma | 4679 | 6.0e-03 |
| diabetes mellitus | 1728 | 8.4e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Glycogen storage disease II | 6 | 4.641 | 2.3 |
| Polycystic liver disease | 16 | 4.457 | 2.2 |
| Disease | Target Count |
|---|---|
| Polycystic kidney disease 3 | 5 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytoma | 1.500 | 4.5e-03 |
| Astrocytoma, Pilocytic | 1.200 | 3.1e-05 |
| atypical teratoid / rhabdoid tumor | 1.400 | 2.0e-10 |
| diabetes mellitus | -1.300 | 8.4e-03 |
| ependymoma | 1.300 | 6.0e-03 |
| glioblastoma | 1.200 | 9.7e-08 |
| group 4 medulloblastoma | 1.200 | 4.8e-04 |
| lung adenocarcinoma | 1.100 | 1.1e-10 |
| lung cancer | 1.800 | 6.7e-05 |
| medulloblastoma, large-cell | 1.600 | 5.8e-05 |
| oligodendroglioma | 1.100 | 5.3e-03 |
| osteosarcoma | 1.407 | 1.1e-04 |
| pediatric high grade glioma | 1.500 | 6.0e-07 |
| psoriasis | -2.300 | 1.8e-05 |
MAAVAAVAARRRRSWASLVLAFLGVCLGITLAVDRSNFKTCEESSFCKRQRSIRPGLSPYRALLDSLQLG 1 - 70 PDSLTVHLIHEVTKVLLVLELQGLQKNMTRFRIDELEPRRPRYRVPDVLVADPPIARLSVSGRDENSVEL 71 - 140 TMAEGPYKIILTARPFRLDLLEDRSLLLSVNARGLLEFEHQRAPRVSQGSKDPAEGDGAQPEETPRDGDK 141 - 210 PEETQGKAEKDEPGAWEETFKTHSDSKPYGPMSVGLDFSLPGMEHVYGIPEHADNLRLKVTEGGEPYRLY 211 - 280 NLDVFQYELYNPMALYGSVPVLLAHNPHRDLGIFWLNAAETWVDISSNTAGKTLFGKMMDYLQGSGETPQ 281 - 350 TDVRWMSETGIIDVFLLLGPSISDVFRQYASLTGTQALPPLFSLGYHQSRWNYRDEADVLEVDQGFDDHN 351 - 420 LPCDVIWLDIEHADGKRYFTWDPSRFPQPRTMLERLASKRRKLVAIVDPHIKVDSGYRVHEELRNLGLYV 421 - 490 KTRDGSDYEGWCWPGSAGYPDFTNPTMRAWWANMFSYDNYEGSAPNLFVWNDMNEPSVFNGPEVTMLKDA 491 - 560 QHYGGWEHRDVHNIYGLYVHMATADGLRQRSGGMERPFVLARAFFAGSQRFGAVWTGDNTAEWDHLKISI 561 - 630 PMCLSLGLVGLSFCGADVGGFFKNPEPELLVRWYQMGAYQPFFRAHAHLDTGRREPWLLPSQHNDIIRDA 631 - 700 LGQRYSLLPFWYTLLYQAHREGIPVMRPLWVQYPQDVTTFNIDDQYLLGDALLVHPVSDSGAHGVQVYLP 701 - 770 GQGEVWYDIQSYQKHHGPQTLYLPVTLSSIPVFQRGGTIVPRWMRVRRSSECMKDDPITLFVALSPQGTA 771 - 840 QGELFLDDGHTFNYQTRQEFLLRRFSFSGNTLVSSSADPEGHFETPIWIERVVIIGAGKPAAVVLQTKGS 841 - 910 PESRLSFQHDPETSVLVLRKPGINVASDWSIHLR 911 - 944 //
