Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
polycystic kidney disease 2
Summary
- Synonym
-
- APKD2
- PKD2
- Polycystic Kidney Disease, Adult, Type II
- Definition
- A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.
- Super Class
- autosomal dominant polycystic kidney disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13563 | Polycystin-2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35245 | Polycystin-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008672 | Calcium oxalate nephrolithiasis |
| HP:0001407 | Hepatic cysts |
| HP:0012622 | Chronic kidney disease |
| HP:0000107 | Renal cyst |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0000083 | Renal insufficiency |
| HP:0011760 | Pituitary growth hormone cell adenoma |
| HP:0001737 | Pancreatic cysts |
| HP:0012591 | Abnormal urinary electrolyte concentration |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 23193 | GANAB | glucosidase II alpha subunit |
| 29880 | ALG5 | ALG5 dolichyl-phosphate beta-glucosyltransferase |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase |
