PCDH11X

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
View/Edit Human View/Edit Mouse

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

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.

References

1. GRCh38: Ensembl release 89: ENSG00000102290 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034755 – 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. "Entrez Gene: PCDH11X protocadherin 11 X-linked".
6. Yoshida K, Sugano S (December 1999). "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics. 62 (3): 540–3. doi:10.1006/geno.1999.6042. PMID 10644456.
7. Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL, Ma L, Walker LP, Younkin SG, Younkin CS, Younkin LH, Bisceglio GD, Ertekin-Taner N, Crook JE, Dickson DW, Petersen RC, Graff-Radford NR, Younkin SG (February 2009). "Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease". Nat. Genet. 41 (2): 192–8. doi:10.1038/ng.305. PMC 2873177. PMID 19136949.
8. Lescai F, Pirazzini C, D'Agostino G, Santoro A, Ghidoni R, Benussi L, Galimberti D, Federica E, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Bagnoli S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Forloni G, Quadri P, Scarpini E, Franceschi C (2010). "Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients". J. Alzheimers Dis. 21 (2): 385–8. doi:10.3233/JAD-2010-091516. PMID 20555150.
9. Beecham GW, Naj AC, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA (December 2010). "PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility". Psychiatr. Genet. 20 (6): 321–4. doi:10.1097/YPG.0b013e32833b635d. PMC 2964434. PMID 20523261.
10. Wu ZC, Yu JT, Wang ND, Yu NN, Zhang Q, Chen W, Zhang W, Zhu QX, Tan L (October 2010). "Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population". Brain Res. 1357: 152–6. doi:10.1016/j.brainres.2010.08.008. PMID 20707987. S2CID 12500978.
11. Miar A, Alvarez V, Corao AI, Alonso B, Díaz M, Menéndez M, Martínez C, Calatayud M, Morís G, Coto E (2011). "Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease" (PDF). Brain Research. 1383 (1383): 252–6. doi:10.1016/j.brainres.2011.01.054. PMID 21276771. S2CID 6154815.

Further reading

• Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. doi:10.1101/gad.14.10.1169. PMID 10817752. S2CID 44844497.
• Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID 10835267.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Yoshida K, Sugano S (2000). "Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3". Genomics. 62 (3): 540–3. doi:10.1006/geno.1999.6042. PMID 10644456.
• Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
• Nagase T, Kikuno R, Ishikawa KI, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
• Blanco P, Sargent CA, Boucher CA, et al. (2000). "Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain". Mamm. Genome. 11 (10): 906–14. doi:10.1007/s003350010177. PMID 11003707. S2CID 6227270.
• Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. (2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature. 423 (6942): 825–37. Bibcode:2003Natur.423..825S. doi:10.1038/nature01722. PMID 12815422. S2CID 4415259.
• Agate RJ, Choe M, Arnold AP (2004). "Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches". Mol. Biol. Evol. 21 (2): 384–96. doi:10.1093/molbev/msh027. PMID 14660691.
• Blanco-Arias P, Sargent CA, Affara NA (2004). "Protocadherin X ( PCDHX) and Y ( PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains". Mamm. Genome. 15 (1): 41–52. doi:10.1007/s00335-003-3028-7. PMID 14727141. S2CID 11097495.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
• Wilson ND, Ross LJ, Crow TJ, Volpi EV (2006). "PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes". Cytogenet. Genome Res. 114 (2): 137–9. doi:10.1159/000093329. PMID 16825765. S2CID 29735274.
• Williams NA, Close JP, Giouzeli M, Crow TJ (2006). "Accelerated evolution of Protocadherin11X/Y: A candidate gene-pair for cerebral asymmetry and language". American Journal of Medical Genetics Part B. 141B (6): 623–633. doi:10.1002/ajmg.b.30357. PMID 16874762. S2CID 36556093.