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Gene : PCDH15 Homo sapiens

Name  ? protocadherin related 15 Cytological Location  10q21.1
Brief Description  protocadherin related 15
description  This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
  • synonyms:
  • AY029205,
  • USH1F,
  • HGNC:14674,
  • NM_033056,
  • OTTHUMG00000018259,
  • PCDH15,
  • protocadherin 15,
  • USH1F,
  • DFNB23,
  • cadherin-related family member 15,
  • CDHR15,
  • DFNB23,
  • deafness, autosomal recessive 23,
  • CDHR15,
  • uc057tid.1
  • identifiers:
  • 65217,
  • ENSG00000150275,
  • PCDH15

Genome feature

Region: gene ? Length: 1826412  
Location: 10:53802771-55629182 reverse strand Cyto location: 10q21.1


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Function

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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

355 SN Ps

5 Cross References

17 Data Sets

74 Homologues

0 Located Features

90 Rna Seq Results