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MIRAGE
polycystin 2, transient receptor potential cation channel
Summary
- Gene Symbol
-
- PKD2
- Aliases
-
- PC2
- PKD4
- Pc-2
- TRPP2
- transient receptor potential cation channel, subfamily P, member 2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium channel
- Cell membrane
- Ciliopathy
- Cilium
- Coiled coil
- Cytoplasmic vesicle
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycoprotein
- Golgi apparatus
- Metal-binding
- Methylation
- Phosphoprotein
- Potassium channel
- Proteomics identification
- Reference proteome
- Secreted
- Transmembrane helix
- Ubl conjugation
- Voltage-gated channel
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| branching involved in ureteric bud morphogenesis |
|
|
| kidney development |
|
|
| liver development |
|
|
| liver development |
|
|
| embryonic placenta development |
|
GO Hierarchy
biological process
cellular process [inference]
developmental process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of cellular process [inference]
regulation of metabolic process [inference]
positive regulation of cellular process [inference]
negative regulation of cellular process [inference]
regulation of cell cycle
| GO Term | Evidence Code | PMID |
|---|---|---|
| polycystin complex |
|
|
| polycystin complex |
|
|
| polycystin complex |
|
|
| extracellular region |
|
|
| cytoplasm |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| signaling receptor binding |
|
|
| signaling receptor binding |
|
|
| signaling receptor binding |
|
|
| voltage-gated monoatomic ion channel activity |
|
|
| voltage-gated calcium channel activity |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- polycystic kidney disease 2
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| calcium channel activity |
| calcium ion binding |
| calcium ion transmembrane transport |
| calcium ion transport |
| detection of mechanical stimulus |
| metal ion binding |
| monoatomic ion transport |
| InterPro |
|---|
| Polycystic kidney disease type 2 protein |
| Polycystin cation channel, PKD1/PKD2 |
| Polycystin domain |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080322 | polycystic kidney disease | |
| DOID:0110859 | polycystic kidney disease 2 | |
| DOID:10941 | intracranial aneurysm | |
| DOID:8466 | retinal degeneration | |
| DOID:898 | autosomal dominant polycystic kidney disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000083 | Renal insufficiency |
| HP:0000105 | Enlarged kidney |
| HP:0000107 | Renal cyst |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000324 | Facial asymmetry |
| HP:0000790 | Hematuria |
| HP:0000791 | Uric acid nephrolithiasis |
| HP:0000822 | Hypertension |
| Disease ID | Disease Name |
|---|---|
| OMIM:613095 |
|
| ORPHA:730 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
