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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: PKD2
Protein SuperFamily: transient receptor potential cation channel, subfamily P
Gene Tree: Pkd2

Human
homologs
PKD2, polycystic kidney disease 2 (autosomal dominant)
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 5311
neXtProt AC: NX_Q13563

Human Synonyms: APKD2, Pc-2, PC2, PKD4, TRPP2

Human Chr (Location): 4q22.1; chr4:88007639-88077779 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PKD2

Mutations,
alleles, and
phenotypes
All mutations/alleles(25) : Chemically induced (ENU)(1) Gene trapped(12) Targeted(11) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Pkd2 (1)    Mutations Annotated to Human Diseases (4)    Phenotype Images(3)
Interactions
Pkd2 interacts with 305 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (113 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: (36 records)
Data Summary: Results (197)    Tissues (162)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 79
RNA in situ 77
In situ reporter (knock in) 2
Western blot 16
RT-PCR 17
RNase protection 6
cDNA source data(18)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase pkd2 ; ZFIN pkd2    NEW 
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 TC1620728, TC1697371, TC1614366, TC1577481, TC1589311, TC1758179
DoTS DT.530552, DT.101379926, DT.101379924, DT.94167967, DT.55166392
NIA Mouse Gene Index U051192, U042663
Consensus CDS Project CCDS19487.1
International Mouse Phenotyping Consortium Status Pkd2
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:220324 De Vas MG, et al., Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors. Development. 2015 Mar 1;142(5):871-82
All references(133)
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
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory