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Pkd2 Gene Detail
Summary
  • Symbol
    Pkd2
  • Name
    polycystin 2, transient receptor potential cation channel
  • Synonyms
    C030034P18Rik, PC2, polycystin-2, TRPP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1099818
    NCBI Gene: 18764
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:104607316-104653685 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 50.68 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1050 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1099818
 protein coding gene Chr5:104599379-104653685 (+)
129S1/SvImJ ENSMUSG00200005409
 protein coding gene Chr5:98332631-98379003 (+)
A/J ENSMUSG00195031272
 protein coding gene Chr5:97942527-97992628 (+)
AKR/J ENSMUSG00220033968
 protein coding gene Chr5:97401255-97447630 (+)
BALB/cJ ENSMUSG00180031073
 protein coding gene Chr5:98094674-98144775 (+)
C3H/HeJ ENSMUSG00175030315
 protein coding gene Chr5:100163332-100206418 (+)
C57BL/6NJ ENSMUSG00215017042
 protein coding gene Chr5:98003424-98049803 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027481
 protein coding gene Chr5:97264002-97307657 (+)
CAST/EiJ ENSTCUG00005022223
 protein coding gene Chr5:97293038-97336439 (+)
CBA/J ENSMUSG00210031501
 protein coding gene Chr5:98913682-98956760 (+)
DBA/2J ENSMUSG00185046509
 protein coding gene Chr5:101844819-101894936 (+)
FVB/NJ ENSMUSG00205031252
 protein coding gene Chr5:97829387-97872467 (+)
JF1/MsJ ENSUMUG00000005761
 protein coding gene Chr5:104770939-104814094 (+)
LP/J ENSMUSG00230024728
 protein coding gene Chr5:105873974-105920338 (+)
NOD/ShiLtJ ENSMUSG00190025126
 protein coding gene Chr5:97818160-97864533 (+)
NZO/HlLtJ ENSMUSG00225024913
 protein coding gene Chr5:113640855-113695531 (+)
PWK/PhJ ENSLUMG00010014516
 protein coding gene Chr5:96885902-96936307 (+)
SPRET/EiJ ENSMSPG00010022753
 protein coding gene Chr5:99820714-99863911 (+)
WSB/EiJ ENSIUOG00005030399
 protein coding gene Chr5:100524733-100574911 (+)



Homology
more
  • Human Ortholog
    PKD2, polycystin 2, transient receptor potential cation channel
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKD2, polycystin 2, transient receptor potential cation channel
  • Synonyms
    APKD2, Pc-2, PC2, PKD4, TRPP2
  • Links
    NCBI Gene ID: 5311
    UniProt: Q13563

  • Chr Location
    4q22.1; chr4:88007629-88077777 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pkd2 mouse models; 5 with human PKD2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 7 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    73 phenotypes from 12 alleles in 14 genetic backgrounds
    11 phenotypes from multigenic genotypes
    1 images
    129 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.
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
less
  • All GO Annotations
    260
  • GO References
    50
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    896
  • Tissues
    197
  • cDNA Data
    20
  • Literature Summary
    51
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034462 Ensembl Gene Model | MGI Sequence Detail 46370 C57BL/6J ±  kb
    transcript ENSMUST00000086831 Ensembl | MGI Sequence Detail 5219 Not Applicable  
    polypeptide ENSMUSP00000084041 Ensembl | MGI Sequence Detail 966 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      Genomic 9
      cDNA 22
      Primer pair 10
      Antibodies 10

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1924630
    References
    more
    • Summaries
      All 251
      Developmental Gene Expression 51
      Diseases 5
      Gene Ontology 50
      Phenotypes 129
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:386560 Tran U, et al., BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD. Elife. 2026 Feb 12;14
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory