PCDH15

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)
End	55,627,942 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	74,649,737 bp
RNA expression pattern
	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
	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
	65217
	11994
	ENSG00000150275
	ENSMUSG00000052613
	Q96QU1
	Q99PJ1
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000150275 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000052613 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ Cite error: The named reference entrez was invoked but never defined (see the help page).

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000150275 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11398101-5] 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.

[pmid14570705-6] 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.

[entrez-7] Cite error: The named reference entrez was invoked but never defined (see the help page).

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