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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0029815
 protein coding gene Chr5:106134981-106183840 (+)
A/J MGP_AJ_G0029779
 protein coding gene Chr5:102151801-102202103 (+)
AKR/J MGP_AKRJ_G0029727
 protein coding gene Chr5:105466628-105511573 (+)
BALB/cJ MGP_BALBcJ_G0029791
 protein coding gene Chr5:103218780-103261895 (+)
C3H/HeJ MGP_C3HHeJ_G0029513
 protein coding gene Chr5:105859036-105903452 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030246
 protein coding gene Chr5:110489951-110537736 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027481
 protein coding gene Chr5:97264002-97307657 (+)
CAST/EiJ MGP_CASTEiJ_G0028925
 protein coding gene Chr5:104570862-104616067 (+)
CBA/J MGP_CBAJ_G0029484
 protein coding gene Chr5:114337573-114382188 (+)
DBA/2J MGP_DBA2J_G0029628
 protein coding gene Chr5:102356100-102401697 (+)
FVB/NJ MGP_FVBNJ_G0029587
 protein coding gene Chr5:101130671-101172962 (+)
LP/J MGP_LPJ_G0029716
 protein coding gene Chr5:106736111-106786456 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029616
 protein coding gene Chr5:119244980-119288875 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030279
 protein coding gene Chr5:104979724-105023083 (+)
PWK/PhJ MGP_PWKPhJ_G0028642
 protein coding gene Chr5:100797596-100841613 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028478
 protein coding gene Chr5:102640707-102687018 (+)
WSB/EiJ MGP_WSBEiJ_G0029003
 protein coding gene Chr5:105365241-105414397 (+)



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
    neXtProt AC: NX_Q13563
    UniProt: Q13563

  • Chr Location
    4q22.1; chr4:88007635-88077777 (+)  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
    117 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
    193
  • GO References
    44
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
    982
  • Tissues
    196
  • 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 39
      Genomic 9
      cDNA 22
      Primer pair 8

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1924630
    References
    more
    • Summaries
      All 230
      Developmental Gene Expression 51
      Diseases 5
      Gene Ontology 44
      Phenotypes 117
    • 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:347984 Naillat F, et al., Calcium signaling induces partial EMT and renal fibrosis in a Wnt4(mCherry) knock-in mouse model. Biochim Biophys Acta Mol Basis Dis. 2024 Apr 21;1870(5):167180
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory