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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
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:72935174-74485569 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891428
 protein coding gene Chr10:72932003-74485663 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCDH15, protocadherin related 15
  • Synonyms
    CDHR15, DFNB23, USH1F
  • Links
    NCBI Gene ID: 65217
    neXtProt AC: NX_Q96QU1
    UniProt: Q96QU1

  • Chr Location
    10q21.1; chr10:53802771-55627942 (-)  GRCh38
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
less
  • Phenotype Summary
    90 phenotypes from 20 alleles in 17 genetic backgrounds
    7 phenotypes from multigenic genotypes
    72 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
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 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
less
  • All GO Annotations
    67
  • GO References
    33
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    761
  • Tissues
    46
  • cDNA Data
    28
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 33
      Genomic 1
      cDNA 29
      Primer pair 2
      Other 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 124
      Developmental Gene Expression 12
      Diseases 3
      Gene Ontology 33
      Phenotypes 72
    • Earliest
      J:5225 Osako S, et al., Electron microscopic studies of capillary permeability in normal and ames waltzer deaf mice. Acta Otolaryngol. 1971 May;71(5):365-76
    • Latest
      J:346281 Krey JF, et al., Control of stereocilia length during development of hair bundles. PLoS Biol. 2023 Apr;21(4):e3001964
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory