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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; chr4:88007647-88077779 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PKD2
Mutations,
alleles, and
phenotypes
All mutations/alleles(24) : Chemically induced (ENU)(1) Gene trapped(12) Targeted(11)
Incidental mutations (data from Mutagenetix , APF )
 
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)
Interactions
Pkd2 interacts with 306 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (110 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: (34 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 TypeResults
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   Expression Atlas
Molecular
reagents
All nucleic(33) Genomic(9) cDNA(18) Primer pair(6)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000025951 (Evidence)
Ensembl Gene ModelENSMUSG00000034462 (Evidence)
Entrez Gene18764 (Evidence)
DFCITC1577481, TC1589311, TC1614366, TC1620728, TC1697371, TC1758179
DoTSDT.101379924, DT.101379926, DT.530552, DT.55166392, DT.94167967
NIA Mouse Gene IndexU042663, U051192
Consensus CDS ProjectCCDS19487.1
International Mouse Knockout Project StatusPkd2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025951 VEGA Gene Model | MGI Sequence Detail 46370 C57BL/6J ±  kb
transcript OTTMUST00000064001 VEGA | MGI Sequence Detail 5219 Not Applicable 
polypeptide OTTMUSP00000031741 VEGA | MGI Sequence Detail 966 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(5) UniProt(1)
Polymorphisms PCR(2) : SNPs within 2kb(592 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR003915 Polycystic kidney disease type 2 protein
InterPro IPR013122 Polycystin cation channel, PKD1/PKD2
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
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:205127 Masyuk TV, et al., Centrosomal abnormalities characterize human and rodent cystic cholangiocytes and are associated with Cdc25A overexpression. Am J Pathol. 2014 Jan;184(1):110-21
All references(126)
Disease annotation references (4)
Other
accession IDs
MGI:1924630

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory