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Cplane1 Gene Detail
Summary
  • Symbol
    Cplane1
  • Name
    ciliogenesis and planar polarity effector 1
  • Synonyms
    2410089E03Rik, 4732468D17Rik, b2b012Clo, Hug, Jbts17
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920942
    NCBI Gene: 73692
  • Gene Overview
    MyGene.info: CPLANE1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:8169106-8271158 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 3.82 cM, cytoband A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    487 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920942
protein coding gene Chr15:8169025-8271158 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021705
protein coding gene Chr15:5211835-5330132 (+)
A/J MGP_AJ_G0021666
protein coding gene Chr15:5084160-5195263 (+)
AKR/J MGP_AKRJ_G0021644
protein coding gene Chr15:5131312-5250885 (+)
BALB/cJ MGP_BALBcJ_G0021673
protein coding gene Chr15:4992315-5113293 (+)
C3H/HeJ MGP_C3HHeJ_G0021449
protein coding gene Chr15:5166075-5284624 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022112
protein coding gene Chr15:5404043-5523998 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019649
protein coding gene Chr15:4673092-4771002 (+)
CAST/EiJ MGP_CASTEiJ_G0020965
protein coding gene Chr15:5155377-5281139 (+)
CBA/J no annotation
DBA/2J MGP_DBA2J_G0021542
protein coding gene Chr15:5004194-5111208 (+)
FVB/NJ MGP_FVBNJ_G0021520
protein coding gene Chr15:4924915-5033048 (+)
LP/J MGP_LPJ_G0021610
protein coding gene Chr15:5138476-5248635 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021545
protein coding gene Chr15:5743836-5860079 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022135
protein coding gene Chr15:5163770-5277071 (+)
PWK/PhJ MGP_PWKPhJ_G0020708
protein coding gene Chr15:5019495-5125263 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020546
protein coding gene Chr15:5054922-5166022 (+)
WSB/EiJ MGP_WSBEiJ_G0021021
protein coding gene Chr15:5104676-5224833 (+)



Homology
more
  • Human Ortholog
    CPLANE1, ciliogenesis and planar polarity effector 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    CPLANE1, ciliogenesis and planar polarity effector 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C5orf42, Hug, JBTS17, OFD6
  • Links
    NCBI Gene ID: 65250
    neXtProt AC: NX_Q9H799
    UniProt: Q9H799

  • Chr Location
    5p13.2; chr5:37063928-37249428 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cplane1 mouse models; 2 with human CPLANE1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 2 alleles in 2 genetic backgrounds
    64 images
    11 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 exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. Non-cardiovascular defects include cleft palate, polydactyly, transparent chest wall (sternal bone hypoplasia) and hypoplastic lungs.
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
  • cDNA Data
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039801 Ensembl Gene Model | MGI Sequence Detail 102053 C57BL/6J ±  kb
    transcript ENSMUST00000110617 Ensembl | MGI Sequence Detail 10469 Not Applicable  
    polypeptide ENSMUSP00000106247 Ensembl | MGI Sequence Detail 3214 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR028236 Ciliogenesis and planar polarity effector 1
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 11

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGI:2447821, MGI:5300208
    References
    more
    • Summaries
      All 34
      Diseases 1
      Gene Ontology 6
      Phenotypes 11
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:243791 Toriyama M, et al., The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 Jun;48(6):648-56

    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)
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    Funding Information
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    last database update
    10/20/2020
    MGI 6.16
    The Jackson Laboratory