PCDH18

PCDH18
Identifiers
Aliases	PCDH18 , PCDH68L, protocadherin 18
External IDs	OMIM: 608287; MGI: 1920423; HomoloGene: 10389; GeneCards: PCDH18; OMA:PCDH18 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q28.3 Start 137,518,918 bp [1] End 137,532,494 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 C Start 49,697,745 bp [2] End 49,711,774 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium Achilles tendon parietal pleura lactiferous duct mucosa of ileum retinal pigment epithelium tibia placenta skin of hip visceral pleura Top expressed in hand maxillary prominence genital tubercle mandibular prominence dermis human fetus left lung lobe molar Gonadal ridge foot More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane plasma membrane membrane integral component of plasma membrane Biological process brain development homophilic cell adhesion via plasma membrane adhesion molecules cell adhesion cell-cell signaling nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54510 73173 Ensembl ENSG00000189184 ENSMUSG00000037892 UniProt Q9HCL0 Q8VHR0 RefSeq (mRNA) NM_001300828 NM_019035 NM_130448 RefSeq (protein) NP_001287757 NP_061908 NP_569715 NP_001391291 NP_001391292 NP_001391293 NP_001391295 NP_001391296 NP_001391306 Location (UCSC) Chr 4: 137.52 – 137.53 Mb Chr 3: 49.7 – 49.71 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin-18 is a protein that in humans is encoded by the PCDH18 gene. ^{[5] [6] [7]}

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000189184 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037892 – 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. Nollet F, Kools P, van Roy F (Jul 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.
6. Wolverton T, Lalande M (Sep 2001). "Identification and characterization of three members of a novel subclass of protocadherins". Genomics. 76 (1–3): 66–72. doi:10.1006/geno.2001.6592. PMID   11549318.
7. "Entrez Gene: PCDH18 protocadherin 18".

Further reading

• Suzuki ST (2000). "Recent progress in protocadherin research". Exp. Cell Res. 261 (1): 13–8. doi:10.1006/excr.2000.5039. PMID   11082270.
• 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.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Homayouni R, Rice DS, Curran T (2002). "Disabled-1 interacts with a novel developmentally regulated protocadherin". Biochem. Biophys. Res. Commun. 289 (2): 539–47. doi:10.1006/bbrc.2001.5998. PMID   11716507.
• Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi: 10.1093/dnares/7.4.271 . PMID   10997877.
• 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.