PCDH17

Protocadherin-17 is a protein that in humans is encoded by the PCDH17 gene.[5][6]

PCDH17
Identifiers
Aliases	PCDH17, PCDH68, PCH68, protocadherin 17
External IDs	OMIM: 611760 MGI: 2684924 HomoloGene: 8700 GeneCards: PCDH17
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q21.1 Start 57,631,744 bp[1] End 57,729,311 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 D3 Start 84,443,563 bp[2] End 84,539,002 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • calcium ion binding • GO:0001948 protein binding Cellular component • integral component of membrane • cell membrane • membrane • integral component of plasma membrane • glutamatergic synapse • GABA-ergic synapse • integral component of postsynaptic membrane • integral component of presynaptic membrane Biological process • presynaptic active zone assembly • adult behavior • regulation of synaptic vesicle clustering • negative regulation of synaptic transmission • homophilic cell adhesion via plasma membrane adhesion molecules • cell adhesion • cell-cell signaling • synapse assembly • synaptic membrane adhesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	27253	219228
Ensembl	ENSG00000118946	ENSMUSG00000035566
UniProt	O14917	n/a
RefSeq (mRNA)	NM_001040429 NM_014459	NM_001013753
RefSeq (protein)	NP_001035519	n/a
Location (UCSC)	Chr 13: 57.63 – 57.73 Mb	Chr 14: 84.44 – 84.54 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain.[6] PCDH17 promoter methylation is found to be closely associated with bladder cancer malignancy [7]

References

1. GRCh38: Ensembl release 89: ENSG00000118946 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035566 - 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. "Entrez Gene: PCDH17 protocadherin 17".
7. Wang XB (Apr 2014). "Protocadherin 17 promoter methylation in tumour tissue from patients with bladder transitional cell carcinoma". J Int Med Res. 42 (2): 292–9. doi:10.1177/0300060513504364. PMID 24567353.

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 (inactive 2020-01-22). PMID 10817752.
• Suzuki ST (2000). "Recent progress in protocadherin research". Exp. Cell Res. 261 (1): 13–8. doi:10.1006/excr.2000.5039. PMID 11082270.
• 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. Bibcode:2000PNAS...97.3124W. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
• 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.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. Bibcode:2004Natur.428..522D. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Szafranski K, Schindler S, Taudien S, et al. (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". Genome Biology. 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMC 2374985. PMID 17672918.