PCDHA12
From Wikipedia, the free encyclopedia
Protocadherin alpha 12
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Identifiers | ||||||||||||||
Symbol(s) | PCDHA12; MGC138485; MGC141932; PCDH-ALPHA12 | |||||||||||||
External IDs | OMIM: 606318 HomoloGene: 88858 | |||||||||||||
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Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 56137 | n/a
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Refseq | NM_018903 (mRNA) NP_061726 (protein) |
n/a (mRNA) n/a (protein) |
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Pubmed search | [1] | n/a |
Protocadherin alpha 12, also known as PCDHA12, 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
[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.
- Martineau J, Barthélémy C, Jouve J, et al. (1992). "Monoamines (serotonin and catecholamines) and their derivatives in infantile autism: age-related changes and drug effects.". Developmental medicine and child neurology 34 (7): 593–603. PMID 1380929.
- 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.
- 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: . PMID 10662547.
- 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.
- Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5.". Nature 431 (7006): 268–74. doi: . PMID 15372022.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117–26. doi: . PMID 16303743.