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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 |
|---|---|---|
| determination of liver left/right asymmetry | ||
| metanephric ascending thin limb development | ||
| cellular response to calcium ion | ||
| branching involved in ureteric bud morphogenesis | ||
| embryonic placenta 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 |
|---|---|---|
| potassium channel activity | ||
| voltage-gated sodium channel activity | ||
| phosphoprotein binding | ||
| protein binding | ||
| 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: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 |
|---|---|
| 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 |
|---|---|---|---|
| 178424 | WB:WBGene00004035 | ||
| 34651 | FB:FBgn0041195 | ||
| 102353493 | LATCH05511 | ||
| 432387 | ZFIN:ZDB-GENE-040827-4 | DANRE17787 | |
| 103043751 | ASTMX17308 | ||
| 108262951 | ICTPU26330 | ||
| 113591982 | ELEEL47778 | ||
| 106602324 | SALSA118029 | ||
| 115191757 | SALTR28967 | ||
| 115202269 | SALTR16984 |
