About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:104459450-104505819 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 50.68 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    578 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1099818
protein coding gene Chr5:104453995-104505819 (.)
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
    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
    UniProt: Q13563

  • Chr Location
    4q22.1; chr4:88007647-88077779 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 7 models
      
IDs
View 1 model
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 13 genetic backgrounds
    13 phenotypes from multigenic genotypes
    3 images
    81 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 35
      Genomic 9
      cDNA 20
      Primer pair 6

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1924630
    References
    more
    • Summaries
      All 175
      Developmental Gene Expression 42
      Diseases 5
      Gene Ontology 38
      Phenotypes 81
    • 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:265803 Da Silva-Alverez S, et al., Pkd2 deletion during embryo development does not alter mesonephric programmed cell senescence. Int J Dev Biol. 2018;62(9-10):637-640

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory