PCDHGC3

From Wikipedia, the free encyclopedia


Protocadherin gamma subfamily C, 3
Identifiers
Symbol(s) PCDHGC3; PC43; PCDH-GAMMA-C3; PCDH2
External IDs OMIM: 603627 MGI1935201 HomoloGene31099
Orthologs
Human Mouse
Entrez 5098 93706


Refseq NM_002588 (mRNA)
NP_002579 (protein)
NM_033581 (mRNA)
NP_291059 (protein)
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:10.1006/jmbi.2000.3777. 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:10.1073/pnas.060027397. 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. 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:10.1073/pnas.242603899. 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. 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.