PCDH15
Sign in to saveAlso known as CDHR15, DFNB23, USH1F, protocadherin-related 15, protocadherin related 15
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.
In the Vinony graph
Vinony's link graph records 78 inbound references to PCDH15, and connects out to PubMed, human chromosome 10 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 10.
Vinony links it to 8 Wikipedia language editions.
Gene data
PCDH15- Name
- protocadherin related 15
- Type
- protein-coding
- Position
- 53,802,771–55,627,942 (−)
- Aliases
- CDHR15, DFNB23, USH1F
- Ensembl
- ENSG00000150275
- RefSeq RNA
- NM_001142763.2, NM_001142764.2, NM_001142765.2, NM_001142766.2, NM_001142767.2
- RefSeq protein
- NP_001136235.1, NP_001136236.1, NP_001136237.1, NP_001136238.1, NP_001136239.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
protocadherin related 15
- Symbol
- PCDH15
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:53,802,771-55,627,942
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 23401
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/65217
- genomic end
- 57387702
- genomic start
- 55562531
- chromosome
- human chromosome 10
- cytogenetic location
- 10q21.1
- expressed in
- anterior pituitary
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.
== Function ==
Excerpted from Wikipedia’s “PCDH15” article, available under the CC BY-SA 4.0 licence.