PCDHGA12

From Wikipedia, the free encyclopedia

Protocadherin gamma subfamily A, 12

Identifiers

PCDHGA12; CDH21; FIB3; KIAA0588; PCDH-GAMMA-A12

External IDs

OMIM: 603059 MGI: 1935229 HomoloGene: 74506

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

Orthologs

Human

Mouse

Entrez

26025

93724

Refseq

NM_003735 (mRNA)
NP_003726 (protein)

NM_033595 (mRNA)
NP_291073 (protein)

Pubmed search

[1]

[2]

Protocadherin gamma subfamily A, 12, also known as PCDHGA12, 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

^ ^a ^b Entrez Gene: PCDHGA12 protocadherin gamma subfamily A, 12.

[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.
Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265-70. doi:10.1101/gr.1293003. PMID 12975309.
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.
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.
Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.". DNA Res. 5 (1): 31-9. PMID 9628581.
Matsuyoshi N, Imamura S (1997). "Multiple cadherins are expressed in human fibroblasts.". Biochem. Biophys. Res. Commun. 235 (2): 355-8. doi:10.1006/bbrc.1997.6707. PMID 9199196.