PCDHAC2

From Wikipedia, the free encyclopedia

Protocadherin alpha subfamily C, 2

Identifiers

PCDHAC2; MGC71598; PCDH-ALPHA-C2

External IDs

OMIM: 606321 MGI: 1891443 HomoloGene: 49562

Gene ontology
Molecular Function:	• calcium ion binding • protein binding
Cellular Component:	• membrane fraction • integral to plasma membrane • membrane
Biological Process:	• cell adhesion • homophilic cell adhesion • nervous system development

Orthologs

Human

Mouse

Entrez

56134

353237

Refseq

NM_018899 (mRNA)
NP_061722 (protein)

NM_001003672 (mRNA)
NP_001003672 (protein)

Pubmed search

[1]

[2]

Protocadherin alpha subfamily C, 2, also known as PCDHAC2, is a human gene.^[1]

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined.^[1]

[edit] References

^ ^a ^b Entrez Gene: PCDHAC2 protocadherin alpha subfamily C, 2.

[edit] Further reading

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.
Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity.". Genes Dev. 14 (10): 1169-80. PMID 10817752.
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.
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.
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.
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.
Sugino H, Hamada S, Yasuda R, et al. (2000). "Genomic organization of the family of CNR cadherin genes in mice and humans.". Genomics 63 (1): 75-87. doi:10.1006/geno.1999.6066. PMID 10662547.
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.