InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Pkd2

Summary

InnateDB Protein

IDBP-185568.6

Last Modified

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

Gene Symbol

Pkd2

Protein Name

polycystic kidney disease 2

Synonyms

C030034P18Rik; PC2; TRPP2;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000084041

InnateDB Gene

IDBG-185566 (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. {ECO:0000269PubMed:12514735, ECO:0000269PubMed:20096584, ECO:0000269PubMed:21307093}.

Subcellular Localization

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

Disease Associations

Tissue Specificity

Expressed in mesenchymally derived structures in the developing embryo at day 12.5. Isoform 1 is predominantly expressed in kidney at all developmental stages with high levels also detected in lung. Isoform 3 shows highest expression in brain with lower expression in kidney and lung, low levels in thymus and is hardly detectable in liver. {ECO:0000269PubMed:16192288, ECO:0000269PubMed:21307093, ECO:0000269PubMed:9716661}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [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:0005262	calcium 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: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: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: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

MGI:1099818

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