Pkd2
Gene Detail

Symbol Name ID

Pkd2 polycystic kidney disease 2 MGI:1099818

Synonyms

C030034P18Rik, PC2, polycystin-2, TRPP2

Feature Type

protein coding gene

Genetic Map

Chromosome 5

50.68 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr5:104459450-104505819 bp, + strand From VEGA annotation of GRCm38   46370 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20104  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: transient receptor potential cation channel, subfamily P
Gene Tree: Pkd2

Human homologs

Human Homolog		PKD2, polycystic kidney disease 2 (autosomal dominant)
NCBI Gene ID		5311
neXtProt AC		NX_Q13563
Human Synonyms		APKD2, Pc-2, PC2, PKD4, TRPP2
Human Chr (Location)		4q22.1; chr4:88928799-88998931 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PKD2

Alleles and phenotypes

All alleles(23) : Targeted(10) Gene trapped(12) Chemically induced(1)
 

Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity.

 
Human Diseases Modeled Using Mouse Pkd2 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (108 annotations)

Process	calcium ion transmembrane transport, calcium ion transport, ...
Component	basal cortex, basal plasma membrane, ...
Function	actinin binding, alpha-actinin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (33 records)
Data Summary: Results (196)    Tissues (158)    Images (25)
Theiler Stages: 3, 5, 8, 9, 11, 13, 15, 16, 17, 19, 20, 21, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	78
RNA in situ	77
Western blot	16
RT-PCR	19
RNase protection	6

cDNA source data(18)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(33) Genomic(9) cDNA(18) Primer pair(6)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000025951 (Evidence)
Ensembl Gene Model	ENSMUSG00000034462 (Evidence)
Entrez Gene	18764 (Evidence)
DFCI	TC1577481, TC1589311, TC1614366, TC1620728, TC1697371, TC1758179
DoTS	DT.101379924, DT.101379926, DT.530552, DT.55166392, DT.94167967
NIA Mouse Gene Index	U042663, U051192
Consensus CDS Project	CCDS19487.1
International Mouse Knockout Project Status	Pkd2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025951	VEGA Gene Model | MGI Sequence Detail	46370	C57BL/6J
transcript	OTTMUST00000064001	VEGA | MGI Sequence Detail	5219	Not Applicable
polypeptide	OTTMUSP00000031741	VEGA | MGI Sequence Detail	966	Not Applicable

All sequences(63) RefSeq(2) UniProt(1)

Polymorphisms

PCR(2) : SNPs(342 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR018249	EF-HAND 2
InterPro	IPR011992	EF-hand-like domain
InterPro	IPR003915	Polycystic kidney disease type 2 protein
InterPro	IPR013122	Polycystin cation channel, PKD1/PKD2
Protein Ontology	PR:000012773	polycystin-2

References

(Earliest) J:48348 Mochizuki T, et al., PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 1996 May 31;272(5266):1339-42
(Latest) J:192850 Brookes ZL, et al., Pkd2 mesenteric vessels exhibit a primary defect in endothelium-dependent vasodilatation restored by rosiglitazone. Am J Physiol Heart Circ Physiol. 2013 Jan 1;304(1):H33-41
All references(120)

Other accession IDs

MGI:1924630