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)
NCBI Gene
5311
HGNC
9009
KEGG Gene ID
hsa:5311
PubChem
5311
Alliance of Genome Resources
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
Displaying all 2 entries
UniProt Protein Name
Q9UEU6
Q13563
  • Autosomal dominant polycystic kidney disease type II protein
  • Polycystic kidney disease 2 protein
  • Polycystwin
  • R48321
  • Transient receptor potential cation channel subfamily P member 2
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 25 in total
GO Term Evidence Code PMID
membrane
migrasome
Golgi apparatus
non-motile cilium
cytoplasmic vesicle membrane
GO Hierarchy
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
Human Protein Atlas
ENSG00000118762

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K04986
Name
polycystin 2
References
Disease
Disease Ontology
Displaying all 7 entries
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
Displaying entries 1 - 10 of 42 in total
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
Displaying all 2 entries
Disease ID Disease Name
OMIM:613095
  • polycystic kidney disease 2
ORPHA:730
  • autosomal dominant polycystic kidney disease

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Acknowledgements

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Last updated: December 9, 2024