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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
Location & Maps
more
  • Sequence Map
    Chr19:44147637-44192442 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      44806 bp   ±  kb flank

  • Genome Browsers
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

  • Chr Location
    10q24; chr10:100288145-100346524 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    2 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Targeted
    3
  • Transgenic
    1
  • Genomic Mutations
    1 involving Pkd2l1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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 OTTMUSG00000033257 VEGA Gene Model | MGI Sequence Detail 44806 C57BL/6J ±  kb
transcript OTTMUST00000083379 VEGA | MGI Sequence Detail 3321 Not Applicable  
polypeptide OTTMUSP00000044798 VEGA | MGI Sequence Detail 760 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    448 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012774 polycystic kidney disease 2-like 1 protein
  • InterPro Domains
    IPR002048 EF-hand domain
    IPR011992 EF-hand domain pair
    IPR003915 Polycystic kidney disease type 2 protein
    IPR013122 Polycystin cation channel, PKD1/PKD2
Molecular
Reagents
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  • All nucleic 10
    cDNA 9
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:1330816, MGI:3040679
References
more
  • Summaries
    All 36
    Developmental Gene Expression 5
    Gene Ontology 7
    Phenotypes 10
  • Earliest
    J:50327 Nomura H, et al., Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J Biol Chem. 1998 Oct 2;273(40):25967-73
  • Latest
    J:217303 Koudelka J, et al., Genetic dissection of TrkB activated signalling pathways required for specific aspects of the taste system. Neural Dev. 2014;9:21

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory