InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PKD2

Summary

InnateDB Protein

IDBP-29445.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PKD2

Protein Name

polycystic kidney disease 2 (autosomal dominant)

Synonyms

APKD2; Pc-2; PC2; PKD4; TRPP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000237596

InnateDB Gene

IDBG-29443 (PKD2)

Protein Structure

UniProt Annotation

Function

Functions as a calcium permeable cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning (By similarity). {ECO:0000250}.

Subcellular Localization

Cell projection, cilium membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.

Disease Associations

Polycystic kidney disease 2 (PKD2) [MIM:613095]: A disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. {ECO:0000269PubMed:10411676, ECO:0000269PubMed:10541293, ECO:0000269PubMed:10835625, ECO:0000269PubMed:11968093, ECO:0000269PubMed:12707387, ECO:0000269PubMed:14993477, ECO:0000269PubMed:15772804, ECO:0000269PubMed:21115670, ECO:0000269PubMed:9326320}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes. {ECO:0000269PubMed:8650545}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	25 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005216	ion channel activity
GO:0005244	voltage-gated ion channel activity
GO:0005245	voltage-gated calcium channel activity
GO:0005248	voltage-gated sodium channel activity
GO:0005267	potassium channel activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0015267	channel activity
GO:0022843	voltage-gated cation channel activity
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0042805	actinin binding
GO:0043398	HLH domain binding
GO:0044325	ion channel binding
GO:0048763	calcium-induced calcium release activity
GO:0051117	ATPase binding
GO:0051219	phosphoprotein binding
GO:0051371	muscle alpha-actinin binding
GO:0051393	alpha-actinin binding

Biological Process

GO:0001658	branching involved in ureteric bud morphogenesis
GO:0001822	kidney development
GO:0001889	liver development
GO:0001892	embryonic placenta development
GO:0001947	heart looping
GO:0003127	detection of nodal flow
GO:0006811	ion transport
GO:0006816	calcium ion transport
GO:0006874	cellular calcium ion homeostasis
GO:0007050	cell cycle arrest
GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0007259	JAK-STAT cascade
GO:0007368	determination of left/right symmetry
GO:0007507	heart development
GO:0008285	negative regulation of cell proliferation
GO:0010628	positive regulation of gene expression
GO:0021510	spinal cord development
GO:0021915	neural tube development
GO:0030814	regulation of cAMP metabolic process
GO:0031587	positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0031659	positive regulation of cyclin-dependent protein kinase activity involved in G1/S
GO:0034614	cellular response to reactive oxygen species
GO:0035502	metanephric part of ureteric bud development
GO:0035725	sodium ion transmembrane transport
GO:0035904	aorta development
GO:0042127	regulation of cell proliferation
GO:0042994	cytoplasmic sequestering of transcription factor
GO:0045429	positive regulation of nitric oxide biosynthetic process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050982	detection of mechanical stimulus
GO:0051209	release of sequestered calcium ion into cytosol
GO:0051298	centrosome duplication
GO:0055085	transmembrane transport
GO:0060315	negative regulation of ryanodine-sensitive calcium-release channel activity
GO:0060674	placenta blood vessel development
GO:0061333	renal tubule morphogenesis
GO:0061441	renal artery morphogenesis
GO:0070588	calcium ion transmembrane transport
GO:0071158	positive regulation of cell cycle arrest
GO:0071464	cellular response to hydrostatic pressure
GO:0071470	cellular response to osmotic stress
GO:0071498	cellular response to fluid shear stress
GO:0071805	potassium ion transmembrane transport
GO:0071910	determination of liver left/right asymmetry
GO:0072001	renal system development
GO:0072075	metanephric mesenchyme development
GO:0072164	mesonephric tubule development
GO:0072177	mesonephric duct development
GO:0072208	metanephric smooth muscle tissue development
GO:0072214	metanephric cortex development
GO:0072218	metanephric ascending thin limb development
GO:0072219	metanephric cortical collecting duct development
GO:0072235	metanephric distal tubule development
GO:0072284	metanephric S-shaped body morphogenesis
GO:0090279	regulation of calcium ion import
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle

Cellular Component

GO:0002133	polycystin complex
GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005911	cell-cell junction
GO:0005929	cilium
GO:0009925	basal plasma membrane
GO:0016020	membrane
GO:0030027	lamellipodium
GO:0031512	motile primary cilium
GO:0031513	nonmotile primary cilium
GO:0031941	filamentous actin
GO:0036064	ciliary basal body
GO:0045180	basal cortex
GO:0060170	ciliary membrane
GO:0070062	extracellular vesicular exosome
GO:0071458	integral component of cytoplasmic side of endoplasmic reticulum membrane
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane
GO:0072686	mitotic spindle

Protein Structure and Domains

PDB ID

InterPro

IPR000434 Polycystic kidney disease type 1 protein
IPR002048 EF-hand domain
IPR003915 Polycystic kidney disease type 2 protein
IPR005821 Ion transport domain
IPR013122 Polycystin cation channel, PKD1/PKD2

PFAM

PF00036
PF13202
PF13405
PF00520
PF08016

PRINTS

PR00500
PR01433

PIRSF

SMART

SM00054

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt