Pkd2 MGI Mouse Gene Detail - MGI:1099818 - polycystin 2, transient receptor potential cation channel

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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
  • 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
  • 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
    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
autosomal dominant polycystic kidney disease

DOID:898
ICD10CM:Q61.3
ICD9CM:753.12
MESH:D007690
NCI:C75464
ORDO:730
UMLS_CUI:C0022680

 View 1 model
Mouse Models

Human Disease Modeled: autosomal dominant polycystic kidney disease

Allelic Composition Genetic Background Reference Phenotypes
Pkd2tm1.1Gwu/Pkd2tm1.1Gwu
Tg(Vil1-cre)997Gum/0
 involves: C57BL/6 * C57BL/6J * SJL J:265516 View
IDs
polycystic kidney disease 2
View 7 models
Mouse Models

Human Disease Modeled: polycystic kidney disease 2

Allelic Composition Genetic Background Reference Phenotypes
Pkd2tm1Som/Pkd2tm1Som
involves: 129/Sv * C57BL/6J * SJL J:47035 View
Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) J:77401 View
Pkd2tm1Som/Pkd2+
 involves: 129/Sv * C57BL/6J * SJL J:47035 View
Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL J:59314 View
Pkd2tm2Som/Pkd2+
 involves: 129/Sv * C57BL/6J * SJL J:59314 View
Pkd2tm3Som/Pkd2tm3Som
Tg(Pkhd1-cre)1Igr/0
 involves: 129S4/SvJae * C57BL/6 J:244067 View
Pkd2tm1Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL J:47035 View
IDs
intracranial aneurysm
IDs
polycystic kidney disease
IDs
retinal degeneration

DOID:8466
MESH:D012162
NCI:C34979
UMLS_CUI:C0035304
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
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  • Phenotype Summary
    73 phenotypes from 12 alleles in 14 genetic backgrounds
    11 phenotypes from multigenic genotypes
    1 images
    123 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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
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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
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
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Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
    • 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 40
      Genomic 9
      cDNA 22
      Primer pair 9

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1924630
    References
    more
    • Summaries
      All 239
      Developmental Gene Expression 51
      Diseases 5
      Gene Ontology 47
      Phenotypes 123
    • 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
    TSS for Pkd2:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr47661 Chr5:104607405-104607446 (+) 110 bp
    Tssr47662 Chr5:104607455-104607476 (+) 150 bp
    Tssr47663 Chr5:104607487-104607508 (+) 182 bp
    Tssr47664 Chr5:104607509-104607520 (+) 199 bp
    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
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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