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
AliasesPCDH11X, PCDH-X, PCDH11, PCDHX, PPP1R119, protocadherin 11 X-linked, PCDH22, PCDH11Y, PCDH-Y
External IDsOMIM: 300246 MGI: 2442849 HomoloGene: 13194 GeneCards: PCDH11X
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq21.31Start91,779,261 bp[1]
End92,623,230 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

27328

245578

Ensembl

ENSG00000102290

ENSMUSG00000034755

UniProt

Q9BZA7

n/a

RefSeq (mRNA)

NM_001081385
NM_001271809
NM_001271810

RefSeq (protein)

n/a

Location (UCSC)Chr X: 91.78 – 92.62 MbChr X: 120.29 – 120.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. 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


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