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Pcdh15
Gene Detail
 Symbol
Name
ID
Pcdh15
protocadherin 15
MGI:1891428
BioType Conflict
Synonyms Gm9815, nmf19, Ush1f
Feature Type protein coding gene
Genetic Map
Chromosome 10
37.43 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr10:73099342-74646314 bp, + strand
From VEGA annotation of GRCm38

  1546973 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23401  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Human
homologs
Human Homolog PCDH15, protocadherin-related 15
NCBI Gene ID 65217
neXtProt AC  NX_Q96QU1
Human Synonyms  CDHR15, DFNB23, USH1F
Human Chr (Location)  10q21.1; chr10:53802771-54801291 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human PCDH15
Alleles
and
phenotypes
All alleles(14) : Chemically induced (ENU)(4) Gene trapped(2) Spontaneous(6) Targeted(1) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Pcdh15 (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (52 annotations)
Process actin filament organization, adult locomotory behavior, ...
Component cytoplasm, extracellular region, ...
Function calcium ion binding, protein binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (47)    Tissues (41)    Images (16)
Theiler Stages: 20, 22, 24, 25, 26, 28
Assay TypeResults
RNA in situ 40
RT-PCR 7
cDNA source data(27)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(30) Genomic(1) cDNA(28) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000021142 (Evidence)
Ensembl Gene ModelENSMUSG00000052613 (Evidence), ENSMUSG00000046980 (Evidence)
Entrez Gene11994 (Evidence)
UniGene338933
DFCITC1586622, TC1595197, TC1615860, TC1667185, TC1698711, TC1754335
DoTSDT.101204584, DT.101215277, DT.101327250, DT.110593275, DT.484475, DT.55139542, DT.91334909, DT.94178988, DT.97339188
NIA Mouse Gene IndexU011651, U139231
PDB4APX, 4AQA, 4AQE, 4AXW, 4AQ8
Consensus CDS ProjectCCDS35934.1, CCDS48594.1, CCDS48595.1, CCDS56711.1, CCDS56712.1, CCDS56713.1, CCDS56714.1, CCDS56715.1, CCDS56716.1, CCDS56717.1, CCDS56718.1, CCDS56719.1, CCDS56720.1, CCDS56721.1
International Mouse Knockout Project StatusPcdh15
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021142 VEGA Gene Model | MGI Sequence Detail 1546973 C57BL/6J ±  kb
transcript OTTMUST00000050062 VEGA | MGI Sequence Detail 6947 Not Applicable 
polypeptide OTTMUSP00000023313 VEGA | MGI Sequence Detail 1943 Not Applicable 

For the selected sequences
All sequences(243) RefSeq(61) UniProt(5)
Polymorphisms RFLP(1) : SNPs within 2kb(5133 from dbSNP Build 137)    SNPs within 2kb including multiple locations(5139)
Protein-related
information
ResourceIDDescription
InterPro IPR002126 Cadherin
InterPro IPR020894 Cadherin conserved site
InterPro IPR015919 Cadherin-like
Protein Ontology PR:000012346 protocadherin-15
References (Earliest) J:14990 Schaible RH, av. Mouse News Lett. 1957;15:29
(Latest) J:196281 Geng R, et al., Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells. J Neurosci. 2013 Mar 6;33(10):4395-404
All references(80)
Other
accession IDs
MGD-MRK-1480, MGI:2143894, MGI:2183461, MGI:3710651, MGI:88118

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory