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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
Location & Maps
more
  • Sequence Map
    Chr10:73099342-74649737 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      1550396 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 37.43 cM
  • Mapping Data
    12 experiments
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

  • Chr Location
    10q21.1; chr10:53802771-54801291 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Pcdh15 mouse models; 3 with human PCDH15 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 23; DFNB23   OMIM: 609533 View 1 model
Usher Syndrome, Type IF; USH1F   OMIM: 602083 View 3 models
       Usher Syndrome, Type ID; USH1D   OMIM: 601067
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
    61 phenotypes from 13 alleles in 13 genetic backgrounds
    7 phenotypes from multigenic genotypes
    52 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.
  • All Mutations and Alleles
    20
  • Chemically induced (ENU)
    5
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Spontaneous
    6
  • Targeted
    3
  • Transgenic
    2
  • Genomic Mutations
    2 involving Pcdh15
  • Incidental Mutations
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
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 OTTMUSG00000021142 VEGA Gene Model | MGI Sequence Detail 1550396 C57BL/6J ±  kb
transcript OTTMUST00000050062 VEGA | MGI Sequence Detail 7881 Not Applicable  
polypeptide OTTMUSP00000023313 VEGA | MGI Sequence Detail 1943 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    5111 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 30
    Genomic 1
    cDNA 28
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-1480, MGI:2143894, MGI:2183461, MGI:3710651, MGI:5704158, MGI:88118
References
more
  • Summaries
    All 85
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 25
    Phenotypes 52
  • Earliest
    J:14990 Schaible RH, av. Mouse News Lett. 1957;15:29
  • Latest
    J:230827 Lelli A, et al., Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. J Cell Biol. 2016 Jan 18;212(2):231-44

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
06/22/2016
MGI 6.04
The Jackson Laboratory