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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Reference proteome
- Secreted
- Transmembrane helix
- Voltage-gated channel
- Wnt signaling pathway
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cilium organization | ||
| mesonephric tubule development | ||
| cellular response to reactive oxygen species | ||
| spinal cord development | ||
| renal tubule morphogenesis |
GO Hierarchy
biological process
cellular process [inference]
developmental process [inference]
response to stimulus [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of localization [inference]
regulation of transport [inference]
regulation of transmembrane transport [inference]
regulation of transmembrane transporter activity [inference]
negative regulation of transmembrane transport [inference]
positive regulation of transmembrane transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
negative regulation of monoatomic ion transmembrane transport [inference]
positive regulation of monoatomic ion transmembrane transport [inference]
regulation of monoatomic cation transmembrane transport [inference]
regulation of monoatomic ion transport [inference]
regulation of metal ion transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
negative regulation of monoatomic ion transmembrane transport [inference]
positive regulation of monoatomic ion transmembrane transport [inference]
regulation of monoatomic cation transmembrane transport [inference]
positive regulation of monoatomic ion transport [inference]
negative regulation of monoatomic ion transport [inference]
positive regulation of transport [inference]
negative regulation of transport [inference]
regulation of sequestering of calcium ion [inference]
positive regulation of biological process [inference]
positive regulation of metabolic process [inference]
positive regulation of cellular process [inference]
positive regulation of transport [inference]
negative regulation of biological process [inference]
negative regulation of cellular process [inference]
negative regulation of transport [inference]
regulation of cellular process [inference]
regulation of cellular metabolic process [inference]
regulation of transmembrane transport [inference]
regulation of transmembrane transporter activity [inference]
negative regulation of transmembrane transport [inference]
positive regulation of transmembrane transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
negative regulation of monoatomic ion transmembrane transport [inference]
positive regulation of monoatomic ion transmembrane transport [inference]
regulation of monoatomic cation transmembrane transport [inference]
positive regulation of cellular process [inference]
negative regulation of cellular process [inference]
regulation of sequestering of calcium ion [inference]
regulation of cell cycle
regulation of molecular function [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| membrane | ||
| migrasome | ||
| Golgi apparatus | ||
| non-motile cilium | ||
| cytoplasmic vesicle membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| calcium-induced calcium release activity | ||
| calcium ion binding | ||
| ATPase binding | ||
| protein homodimerization activity | ||
| cytoskeletal protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Polycystic kidney disease
- Functional Category
-
- E: Amino acid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| calcium channel activity |
| calcium ion binding |
| detection of mechanical stimulus |
| 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:0060340 | ciliopathy | |
| DOID:0080322 | polycystic kidney disease | |
| DOID:0110859 | polycystic kidney disease 2 | |
| DOID:10941 | intracranial aneurysm | |
| DOID:3021 | acute kidney failure | |
| DOID:8466 | retinal degeneration | |
| DOID:898 | autosomal dominant polycystic kidney disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0003596 | Middle age onset |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0003829 | Typified by incomplete penetrance |
| HP:0004944 | Dilatation of the cerebral artery |
| HP:0005562 | Multiple renal cysts |
| HP:0006254 | Elevated circulating alpha-fetoprotein concentration |
| HP:0006557 | Polycystic liver disease |
| Disease ID | Disease Name |
|---|---|
| OMIM:613095 |
|
| ORPHA:730 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 18764 | MGI:1099818 | MOUSE43586 | ||
| 34651 | FB:FBgn0041195 | |||
| 178424 | WB:WBGene00004035 | |||
| 432387 | ZFIN:ZDB-GENE-040827-4 | DANRE17787 | ||
| 461367 | 9598_0:001399 | PANTR34093 | ||
| 498328 | RGD:1559992 | RATNO08534 | ||
| 702179 | MACMU36998 | |||
| 100016662 | MONDO27201 | |||
| 100038156 | Xenbase:XB-GENE-482111 | |||
| 100063439 | HORSE30629 |
