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PCDH15
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4APX, 4AQ8, 4AQA, 4AQE, 4AXW
Identifiers
Aliases	PCDH15, CDHR15, DFNB23, USH1F, protocadherin-related 15, protocadherin related 15
External IDs	OMIM: 605514; MGI: 1891428; HomoloGene: 23401; GeneCards: PCDH15; OMA:PCDH15 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10q21.1 Start 53,802,771 bp End 55,627,942 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 B5.3|10 37.43 cM Start 73,099,342 bp End 74,649,737 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left adrenal cortex testicle right adrenal cortex Amygdala Hypothalamus anterior cingulate cortex right frontal lobe nucleus accumbens C1 segment anterior pituitary Top expressed in neural layer of retina zygote substantia nigra lumbar subsegment of spinal cord secondary oocyte Rostral migratory stream epithelium of lens Bowman's capsule mammillary body primary visual cortex More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane extracellular region plasma membrane photoreceptor outer segment synapse membrane stereocilium extracellular space integral component of plasma membrane Biological process inner ear development photoreceptor cell maintenance sensory perception of light stimulus hearing equilibrioception homophilic cell adhesion via plasma membrane adhesion molecules cell adhesion cell-cell signaling nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 65217 11994 Ensembl ENSG00000150275 ENSMUSG00000052613 UniProt Q96QU1 Q99PJ1 RefSeq (mRNA) NM_033056 NM_001142763 NM_001142764 NM_001142765 NM_001142766 NM_001142767 NM_001142768 NM_001142769 NM_001142770 NM_001142771 NM_001142772 NM_001142773 NM_001354404 NM_001354411 NM_001354420 NM_001354429 NM_001354430 NM_001384140 NM_001142735 NM_001142736 NM_001142737 NM_001142738 NM_001142739 NM_001142740 NM_001142741 NM_001142742 NM_001142743 NM_001142746 NM_001142747 NM_001142748 NM_001142760 NM_023115 RefSeq (protein) NP_001136235 NP_001136236 NP_001136237 NP_001136238 NP_001136239 NP_001136240 NP_001136241 NP_001136242 NP_001136243 NP_001136244 NP_001136245 NP_149045 NP_001341333 NP_001341340 NP_001341349 NP_001341358 NP_001341359 NP_001371069 NP_001136207 NP_001136208 NP_001136209 NP_001136210 NP_001136211 NP_001136212 NP_001136213 NP_001136214 NP_001136215 NP_001136218 NP_001136219 NP_001136220 NP_001136232 NP_075604 Location (UCSC) Chr 10: 53.8 – 55.63 Mb Chr 10: 73.1 – 74.65 Mb PubMed search
Wikidata
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Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.

Function

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function. It is thought to interact with CDH23 to form tip-link filaments.

Clinical significance

Mutations in this gene have been associated with hearing loss, which is consistent with its location at the Usher syndrome type 1F (USH1F) critical region on chromosome 10. Variation within it has also been found to be associated with normal differences in human facial appearance.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000150275 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000052613 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, et al. (July 2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F". American Journal of Human Genetics. 69 (1): 25–34. doi:10.1086/321277. PMC 1226045. PMID 11398101.
6. Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, et al. (December 2003). "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23". Human Molecular Genetics. 12 (24): 3215–23. doi:10.1093/hmg/ddg358. PMID 14570705. S2CID 14028314.
7. ^ "Entrez Gene: PCDH15 protocadherin 15".
8. Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (September 2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. Bibcode:2007Natur.449...87K. doi:10.1038/nature06091. PMID 17805295. S2CID 4414814.
9. Crouch DJ, Winney B, Koppen WP, Christmas WJ, Hutnik K, Day T, et al. (January 2018). "Genetics of the human face: Identification of large-effect single gene variants". Proceedings of the National Academy of Sciences of the United States of America. 115 (4): E676–E685. Bibcode:2018PNAS..115E.676C. doi:10.1073/pnas.1708207114. PMC 5789906. PMID 29301965.

Further reading

• Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP (January 2001). "The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene". Nature Genetics. 27 (1): 99–102. doi:10.1038/83837. PMID 11138007. S2CID 32444699.
• Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, et al. (August 2001). "Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F". Human Molecular Genetics. 10 (16): 1709–18. doi:10.1093/hmg/10.16.1709. PMID 11487575.
• Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, et al. (April 2003). "A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome". The New England Journal of Medicine. 348 (17): 1664–70. doi:10.1056/NEJMoa021502. PMID 12711741.
• Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, et al. (January 2005). "Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans". Human Molecular Genetics. 14 (1): 103–11. doi:10.1093/hmg/ddi010. PMC 2858222. PMID 15537665.
• Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, et al. (March 2005). "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population". Human Genetics. 116 (4): 292–9. doi:10.1007/s00439-004-1227-2. PMID 15660226. S2CID 22812718.
• Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, et al. (September 2006). "Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%". Journal of Medical Genetics. 43 (9): 763–8. doi:10.1136/jmg.2006.041954. PMC 2564578. PMID 16679490.
• Zheng QY, Yu H, Washington JL, Kisley LB, Kikkawa YS, Pawlowski KS, et al. (September 2006). "A new spontaneous mutation in the mouse protocadherin 15 gene". Hearing Research. 219 (1–2): 110–20. doi:10.1016/j.heares.2006.06.010. PMC 2855306. PMID 16887306.
• Le Guédard S, Faugère V, Malcolm S, Claustres M, Roux AF (January 2007). "Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome". Molecular Vision. 13: 102–7. PMC 2533038. PMID 17277737.

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Protocadherin-15 (PCDH15)

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