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Pcdh15 Gene Detail
Summary
  • Symbol
    Pcdh15
  • Name
    protocadherin 15
  • Synonyms
    Gm9815, nmf19, roda, Ush1f
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891428
    NCBI Gene: 11994
  • Gene Overview
    MyGene.info: PCDH15
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:73099342-74649737 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 37.43 cM
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5111 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891428
protein coding gene Chr10:73096266-74649831 (.)
129S1/SvImJ MGP_129S1SvImJ_G0017347
protein coding gene Chr10:73169841-74779095 (+)
A/J MGP_AJ_G0017324
protein coding gene Chr10:70687056-72210470 (+)
AKR/J MGP_AKRJ_G0017285
protein coding gene Chr10:72563788-74143556 (+)
BALB/cJ MGP_BALBcJ_G0017284
protein coding gene Chr10:70833028-72400757 (+)
C3H/HeJ MGP_C3HHeJ_G0017108
protein coding gene Chr10:72584813-74186233 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017742
protein coding gene Chr10:75734667-77439096 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015432
protein coding gene Chr10:67048157-68495464 (+)
CAST/EiJ MGP_CASTEiJ_G0016678
protein coding gene Chr10:72886898-74517762 (+)
CBA/J MGP_CBAJ_G0017080
protein coding gene Chr10:78684728-80463794 (+)
DBA/2J MGP_DBA2J_G0017185
protein coding gene Chr10:69987360-71534880 (+)
FVB/NJ MGP_FVBNJ_G0017178
protein coding gene Chr10:69126100-70657778 (+)
LP/J MGP_LPJ_G0017258
protein coding gene Chr10:73636636-75254526 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017206
protein coding gene Chr10:80760002-82595551 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017781
protein coding gene Chr10:72558399-74175174 (+)
PWK/PhJ MGP_PWKPhJ_G0016462
protein coding gene Chr10:69807008-71337118 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016245
protein coding gene Chr10:71843143-73434383 (+)
WSB/EiJ MGP_WSBEiJ_G0016742
protein coding gene Chr10:72565455-74160332 (+)



Homology
more
  • Human Ortholog
    PCDH15, protocadherin related 15
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PCDH15, protocadherin related 15
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CDHR15, DFNB23, USH1F
  • Links
    NCBI Gene ID: 65217
    neXtProt AC: NX_Q96QU1
    UniProt: Q96QU1

  • Chr Location
    10q21.1; chr10:53802771-55629182 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 23401
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PCDH15
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Pcdh15 mouse models; 3 with human PCDH15 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    64 phenotypes from 18 alleles in 16 genetic backgrounds
    7 phenotypes from multigenic genotypes
    58 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 severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers.
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 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 ENSMUSG00000052613 Ensembl Gene Model | MGI Sequence Detail 1550396 C57BL/6J ±  kb
    transcript ENSMUST00000193361 Ensembl | MGI Sequence Detail 7881 Not Applicable  
    polypeptide ENSMUSP00000141792 Ensembl | MGI Sequence Detail 1943 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      Genomic 1
      cDNA 29
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1480, MGI:2143894, MGI:2183461, MGI:3710651, MGI:5704158, MGI:88118
    References
    more
    • Summaries
      All 108
      Developmental Gene Expression 10
      Diseases 3
      Gene Ontology 34
      Phenotypes 58
    • Earliest
      J:5225 Osako S, et al., Electron microscopic studies of capillary permeability in normal and ames waltzer deaf mice. Acta Otolaryngol (Stockh). 1971 May;71(5):365-76
    • Latest
      J:266273 Honda A, et al., FGFR1-mediated protocadherin-15 loading mediates cargo specificity during intraflagellar transport in inner ear hair-cell kinocilia. Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):8388-8393

    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
    11/27/2018
    MGI 6.13
    The Jackson Laboratory