PCDHGC3
From Wikipedia, the free encyclopedia
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Protocadherin gamma subfamily C, 3
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| Identifiers | ||||||||||||||
| Symbol(s) | PCDHGC3; PC43; PCDH-GAMMA-C3; PCDH2 | |||||||||||||
| External IDs | OMIM: 603627 MGI: 1935201 HomoloGene: 31099 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 5098 | 93706
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| Refseq | NM_002588 (mRNA) NP_002579 (protein) |
NM_033581 (mRNA) NP_291059 (protein) |
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| Pubmed search | [1] | [2] | ||||||||||||
Protocadherin gamma subfamily C, 3, also known as PCDHGC3, is a human gene.[1]
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.[1]
[edit] References
[edit] Further reading
- Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity.". Genes Dev. 14 (10): 1169-80. 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:. PMID 10835267.
- Sano K, Tanihara H, Heimark RL, et al. (1993). "Protocadherins: a large family of cadherin-related molecules in central nervous system.". EMBO J. 12 (6): 2249-56. PMID 8508762.
- 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 ( Pt 12): 3765-73. PMID 8719883.
- Lynch ED, Lee MK, Morrow JE, et al. (1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.". Science 278 (5341): 1315-8. PMID 9360932.
- 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. 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. 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. doi:. 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:. 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. doi:. 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:. 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:. PMID 16751190.

