PCDHGC3

Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene.[4][5][6]

PCDHGC3
Identifiers
Aliases	PCDHGC3, PC43, PCDH-GAMMA-C3, PCDH2, protocadherin gamma subfamily C, 3
External IDs	OMIM: 603627 MGI: 1935201 HomoloGene: 31099 GeneCards: PCDHGC3
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.3 Start 141,475,947 bp[1] End 141,512,977 bp[1]
Gene ontology Molecular function • calcium ion binding Cellular component • integral component of membrane • cell membrane • membrane • integral component of plasma membrane Biological process • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules • homophilic cell adhesion via plasma membrane adhesion molecules • cell adhesion • cell-cell signaling • nervous system development • synapse organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5098	93706
Ensembl	ENSG00000240184	n/a
UniProt	Q9UN70	n/a
RefSeq (mRNA)	NM_032403 NM_002588 NM_032402	NM_033581
RefSeq (protein)	NP_002579 NP_115778 NP_115779	n/a
Location (UCSC)	Chr 5: 141.48 – 141.51 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000240184 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science. 278 (5341): 1315–8. Bibcode:1997Sci...278.1315L. doi:10.1126/science.278.5341.1315. PMID 9360932.
5. Sano K, Tanihara H, Heimark RL, Obata S, Davidson M, St John T, Taketani S, Suzuki S (Jul 1993). "Protocadherins: a large family of cadherin-related molecules in central nervous system". EMBO J. 12 (6): 2249–56. doi:10.1002/j.1460-2075.1993.tb05878.x. PMC 413453. PMID 8508762.
6. "Entrez Gene: PCDHGC3 protocadherin gamma subfamily C, 3".

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.
• 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.
• Obata S, Sago H, Mori N, et al. (1997). "Protocadherin Pcdh2 shows properties similar to, but distinct from, those of classical cadherins". J. Cell Sci. 108 (12): 3765–73. PMID 8719883.
• Obata S, Sago H, Mori N, et al. (1999). "A common protocadherin tail: multiple protocadherins share the same sequence in their cytoplasmic domains and are expressed in different regions of brain". Cell Adhes. Commun. 6 (4): 323–33. doi:10.3109/15419069809010791. PMID 9865466.
• Wu Q, Maniatis T (1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi:10.1016/S0092-8674(00)80789-8. PMID 10380929.
• 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.
• Wu Q, Zhang T, Cheng JF, et al. (2001). "Comparative DNA Sequence Analysis of Mouse and Human Protocadherin Gene Clusters". Genome Res. 11 (3): 389–404. doi:10.1101/gr.167301. PMC 311048. PMID 11230163.
• 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.
• 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.
• Reiss K, Maretzky T, Haas IG, et al. (2006). "Regulated ADAM10-dependent ectodomain shedding of gamma-protocadherin C3 modulates cell-cell adhesion". J. Biol. Chem. 281 (31): 21735–44. doi:10.1074/jbc.M602663200. PMID 16751190.