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Pkd2l1 Gene Detail
Summary
  • Symbol
    Pkd2l1
  • Name
    polycystic kidney disease 2-like 1
  • Synonyms
    PCL, PKD2L, Pkdl, polycystin-L, TRPP3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352448
    NCBI Gene: 329064
  • Gene Overview
    MyGene.info: PKD2L1
  • Alliance
Location &
Maps
more
  • Sequence Map
    Chr19:44147637-44192442 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 36.91 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    571 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352448
protein coding gene Chr19:44147637-44249352 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025166
protein coding gene Chr19:43600875-43651138 (-)
A/J MGP_AJ_G0025143
protein coding gene Chr19:41521514-41568274 (-)
AKR/J MGP_AKRJ_G0025111
protein coding gene Chr19:42832468-42878463 (-)
BALB/cJ MGP_BALBcJ_G0025137
protein coding gene Chr19:41567465-41611458 (-)
C3H/HeJ MGP_C3HHeJ_G0024897
protein coding gene Chr19:43011955-43057621 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025580
protein coding gene Chr19:44669059-44726246 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022994
protein coding gene Chr19:40812969-40863793 (-)
CAST/EiJ MGP_CASTEiJ_G0024362
protein coding gene Chr19:42721700-42764584 (-)
CBA/J MGP_CBAJ_G0024877
protein coding gene Chr19:46889578-46939263 (-)
DBA/2J MGP_DBA2J_G0025009
protein coding gene Chr19:41346157-41387909 (-)
FVB/NJ MGP_FVBNJ_G0024970
protein coding gene Chr19:41109541-41161310 (-)
LP/J MGP_LPJ_G0025095
protein coding gene Chr19:43558145-43613079 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025001
protein coding gene Chr19:46406719-46451002 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025638
protein coding gene Chr19:42925540-42967889 (-)
PWK/PhJ MGP_PWKPhJ_G0024111
protein coding gene Chr19:41249079-41292763 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023915
protein coding gene Chr19:41636738-41678994 (-)
WSB/EiJ MGP_WSBEiJ_G0024432
protein coding gene Chr19:43062150-43103580 (-)



Homology
more
  • Human Ortholog
    PKD2L1, polycystin 2 like 1, transient receptor potential cation channel
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PKD2L1, polycystin 2 like 1, transient receptor potential cation channel
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PCL, PKD2L, PKDL, TRPP3
  • Links
    NCBI Gene ID: 9033
    neXtProt AC: NX_Q9P0L9
    UniProt: Q9P0L9

  • Chr Location
    10q24.31; chr10:100288145-100346472 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    2 phenotypes from multigenic genotypes
    12 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.
Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants.
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 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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000037578 Ensembl Gene Model | MGI Sequence Detail 44806 C57BL/6J ±  kb
transcript ENSMUST00000042026 Ensembl | MGI Sequence Detail 3321 Not Applicable  
polypeptide ENSMUSP00000045675 Ensembl | MGI Sequence Detail 760 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    cDNA 11
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:1330816, MGI:3040679
References
more
  • Summaries
    All 50
    Developmental Gene Expression 7
    Gene Ontology 10
    Phenotypes 12
  • Earliest
    J:20807 Keller SA, et al., Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics. 1994 Sep 15;23(2):309-20
  • Latest
    J:266474 Shimizu T, et al., The asparagine 533 residue in the outer pore loop region of the mouse PKD2L1 channel is essential for its voltage-dependent inactivation. FEBS Open Bio. 2017 Sep;7(9):1392-1401

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
12/04/2018
MGI 6.13
The Jackson Laboratory