PCDH11X

Protocadherin 11 X-linked, also known as PCDH11X, is a protein which in humans is encoded by the PCDH11X gene.^[5][6]

PCDH11X
Identifiers
Aliases	PCDH11X, PCDH-X, PCDH11, PCDHX, PPP1R119, protocadherin 11 X-linked, PCDH22, PCDH11Y, PCDH-Y
External IDs	OMIM: 300246; MGI: 2442849; HomoloGene: 13194; GeneCards: PCDH11X; OMA:PCDH11X - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq21.31 Start 91,779,261 bp[1] End 92,623,230 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X E2 Start 119,199,956 bp[2] End 119,820,316 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle ganglionic eminence ventricular zone primary visual cortex nucleus accumbens Descending thoracic aorta superior frontal gyrus prefrontal cortex ascending aorta placenta Top expressed in lumbar subsegment of spinal cord substantia nigra anterior amygdaloid area globus pallidus lateral hypothalamus piriform cortex lateral septal nucleus trigeminal ganglion dorsomedial hypothalamic nucleus paraventricular nucleus of hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane Biological process negative regulation of phosphatase activity cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27328 245578 Ensembl ENSG00000102290 ENSMUSG00000034755 UniProt Q9BZA7 n/a RefSeq (mRNA) NM_001168360 NM_001168361 NM_001168362 NM_001168363 NM_014522 NM_032967 NM_032968 NM_032969 NM_001081385 NM_001271809 NM_001271810 RefSeq (protein) NP_001161832 NP_001161833 NP_001161834 NP_001161835 NP_116750 NP_116751 n/a Location (UCSC) Chr X: 91.78 – 92.62 Mb Chr X: 119.2 – 119.82 Mb PubMed search [3] [4]
Wikidata
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Function

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog (PCDH11Y), despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell–cell recognition essential for the segmental development and function of the central nervous system. Neuronal self-avoidance is intricately linked to protocadherin activity. It also plays a role in structural cell-to-cell adherence. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.^[5]

Clinical significance

In a genome-wide association study, the PCDH11X gene has been linked as a risk factor in late onset Alzheimer's disease,^[7] but other studies on different populations ^{[8][9][10][11]} could not confirm the initial association. The clinical significance of this gene is unclear, and the gene might play different roles in different population specific contexts.