PCDH15

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

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)[1] Band 10q21.1 Start 53,802,771 bp[1] End 55,627,942 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 B5.3|10 37.43 cM Start 73,099,342 bp[2] End 74,649,737 bp[2]
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 [3] [4]
Wikidata
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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.^[7] It is thought to interact with CDH23 to form tip-link filaments.^[8]

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.^[7] Variation within it has also been found to be associated with normal differences in human facial appearance.^[9]