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Pkd2 Gene Detail
Summary
  • Symbol
    Pkd2
  • Name
    polycystic kidney disease 2
  • Synonyms
    C030034P18Rik, PC2, polycystin-2, TRPP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1099818
    NCBI Gene: 18764
  • Gene Overview
    MyGene.info: PKD2
Location & Maps
more
  • Sequence Map
    Chr5:104459450-104505819 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      46370 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 50.68 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    PKD2, polycystin 2, transient receptor potential cation channel
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PKD2, polycystin 2, transient receptor potential cation channel
    Orthology source: HGNC, HomoloGene
  • Synonyms
    APKD2, Pc-2, PC2, PKD4, TRPP2
  • Links
    NCBI Gene ID: 5311
    neXtProt AC: NX_Q13563

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

Human Diseases
more
  • Diseases
    1 with Pkd2 mouse models; 1 with human PKD2 associations

Human Disease Mouse Models
       Polycystic Kidney Disease 2; PKD2   OMIM: 613095 View 7 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    72 phenotypes from 11 alleles in 12 genetic backgrounds
    13 phenotypes from multigenic genotypes
    3 images
    69 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    30
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Gene trapped
    12
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    11
  • Transgenic
    2
  • Genomic Mutations
    3 involving Pkd2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    578 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000012773 polycystin-2
  • InterPro Domains
    IPR002048 EF-hand domain
    IPR011992 EF-hand domain pair
    IPR003915 Polycystic kidney disease type 2 protein
    IPR013122 Polycystin cation channel, PKD1/PKD2
    IPR027359 Voltage-dependent channel, four helix bundle domain
Molecular
Reagents
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  • All nucleic 34
    Genomic 9
    cDNA 19
    Primer pair 6

    Microarray probesets 4
Other
Accession IDs
less
MGI:1924630
References
more
  • Summaries
    All 140
    Developmental Gene Expression 39
    Diseases 6
    Gene Ontology 36
    Phenotypes 69
  • 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:233311 Grimes DT, et al., Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination. PLoS Genet. 2016 Jun;12(6):e1006070

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory