- PCDHGA12
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Protocadherin gamma subfamily A, 12 Identifiers Symbols PCDHGA12; CDH21; FIB3; KIAA0588; PCDH-GAMMA-A12 External IDs OMIM: 603059 MGI: 1935229 HomoloGene: 74506 GeneCards: PCDHGA12 Gene Gene Ontology Molecular function • calcium ion binding Cellular component • plasma membrane
• integral to membraneBiological process • cell adhesion
• homophilic cell adhesionSources: Amigo / QuickGO Orthologs Species Human Mouse Entrez 26025 93724 Ensembl ENSG00000253159 n/a UniProt O60330 n/a RefSeq (mRNA) NM_003735.2 NM_033595.4 RefSeq (protein) NP_003726.1 NP_291073.1 Location (UCSC) Chr 5:
140.81 – 140.89 Mbn/a PubMed search [1] [2] Protocadherin gamma-A12 is a protein that in humans is encoded by the PCDHGA12 gene.[1][2]
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.[2]
References
- ^ Wu Q, Maniatis T (Jul 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.
- ^ a b "Entrez Gene: PCDHGA12 protocadherin gamma subfamily A, 12". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26025.
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. PMC 403697. PMID 12975309. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=403697.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=311048.
- 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. PMC 16203. PMID 10716726. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16203.
- 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. doi:10.1093/dnares/5.1.31. 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.
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