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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 |
|---|---|---|
| calcium ion transport | ||
| spinal cord development | ||
| renal artery morphogenesis | ||
| intracellular calcium ion homeostasis | ||
| metanephric mesenchyme development |
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 |
|---|---|---|
| basal cortex | ||
| motile cilium | ||
| ciliary basal body | ||
| endoplasmic reticulum | ||
| cytosol |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoskeletal protein binding | ||
| ATPase binding | ||
| monoatomic cation channel activity | ||
| calcium channel activity | ||
| muscle alpha-actinin binding |
GO Hierarchy
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:4676 | uremia | |
| DOID:4766 | embryoma | |
| DOID:0050424 | familial adenomatous polyposis | |
| DOID:0050156 | idiopathic pulmonary fibrosis | |
| DOID:0050646 | distal arthrogryposis | |
| DOID:0050770 | polycystic liver disease | |
| DOID:0050771 | pheochromocytoma | |
| DOID:0050778 | Meckel syndrome | |
| DOID:0050820 | atrioventricular block | |
| DOID:0050997 | cerebellar ataxia, mental retardation and dysequlibrium syndrome |
- 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 |
|---|---|
| ORPHA:730 |
|
| OMIM:613095 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100016662 | MONDO27201 | ||
| 102448832 | PELSI02110 | ||
| 100567525 | ANOCA07151 | ||
| 114036745 | VOMUR23927 | ||
| 113894147 | BOBOX04044 | ||
| 102535784 | VICPA05851 | ||
| 100959121 | OTOGA11744 | ||
| 101066957 | TAKRU17964 | ||
| 105706982 | AOTNA10741 | ||
| 110209698 | PHACI31754 |
