PCDHA12
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Protocadherin alpha-12 is a protein that in humans is encoded by the PCDHA12 gene.{{cite journal |vauthors=Wu Q, Maniatis T | title = A striking organization of a large family of human neural cadherin-like cell adhesion genes | journal = Cell | volume = 97 | issue = 6 | pages = 779–90 |date=Jul 1999 | pmid = 10380929 | doi =10.1016/S0092-8674(00)80789-8 | s2cid = 6014717 | doi-access = free }}{{cite web | title = Entrez Gene: PCDHA12 protocadherin alpha 12| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56137}}
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome 5 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.
References
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Further reading
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- {{cite journal |vauthors=Yagi T, Takeichi M |title=Cadherin superfamily genes: functions, genomic organization, and neurologic diversity |journal=Genes Dev. |volume=14 |issue= 10 |pages= 1169–80 |year= 2000 |pmid= 10817752 |doi= 10.1101/gad.14.10.1169|s2cid=44844497 |doi-access=free }}
- {{cite journal |vauthors=Nollet F, Kools P, van Roy F |title=Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members |journal=J. Mol. Biol. |volume=299 |issue= 3 |pages= 551–72 |year= 2000 |pmid= 10835267 |doi= 10.1006/jmbi.2000.3777 }}
- {{cite journal | author=Martineau J |title=Monoamines (serotonin and catecholamines) and their derivatives in infantile autism: age-related changes and drug effects |journal=Developmental Medicine & Child Neurology |volume=34 |issue= 7 |pages= 593–603 |year= 1992 |pmid= 1380929 |doi=10.1111/j.1469-8749.1992.tb11490.x |name-list-style=vanc| author2=Barthélémy C | author3=Jouve J | display-authors=3 | last4=Muh | first4=Jean-Pierre | last5=Lelord | first5=Gilbert |s2cid=28807066 }}
- {{cite journal | author=Sugino H |title=Genomic organization of the family of CNR cadherin genes in mice and humans |journal=Genomics |volume=63 |issue= 1 |pages= 75–87 |year= 2000 |pmid= 10662547 |doi= 10.1006/geno.1999.6066 |name-list-style=vanc| author2=Hamada S | author3=Yasuda R | display-authors=3 | last4=Tuji | first4=Atushi | last5=Matsuda | first5=Yoichi | last6=Fujita | first6=Masami | last7=Yagi | first7=Takeshi }}
- {{cite journal |vauthors=Wu Q, Maniatis T |title=Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3124–9 |year= 2000 |pmid= 10716726 |doi= 10.1073/pnas.060027397 | pmc=16203 |bibcode=2000PNAS...97.3124W |doi-access=free }}
- {{cite journal | author=Wu Q |title=Comparative DNA sequence analysis of mouse and human protocadherin gene clusters |journal=Genome Res. |volume=11 |issue= 3 |pages= 389–404 |year= 2001 |pmid= 11230163 |doi= 10.1101/gr.167301 | pmc=311048 |name-list-style=vanc| author2=Zhang T | author3=Cheng JF | display-authors=3 | last4=Kim | first4=Y | last5=Grimwood | first5=J | last6=Schmutz | first6=J | last7=Dickson | first7=M | last8=Noonan | first8=JP | last9=Zhang | first9=MQ }}
- {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal | author=Schmutz J |title=The DNA sequence and comparative analysis of human chromosome 5 |journal=Nature |volume=431 |issue= 7006 |pages= 268–74 |year= 2004 |pmid= 15372022 |doi= 10.1038/nature02919 |name-list-style=vanc| author2=Martin J | author3=Terry A | display-authors=3 | last4=Couronne | first4=Olivier | last5=Grimwood | first5=Jane | last6=Lowry | first6=Steve | last7=Gordon | first7=Laurie A. | last8=Scott | first8=Duncan | last9=Xie | first9=Gary |bibcode=2004Natur.431..268S |s2cid=4373053 | doi-access=free }}
- {{cite journal | author=Otsuki T |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 |name-list-style=vanc| author2=Ota T | author3=Nishikawa T | display-authors=3 | last4=Hayashi | first4=K | last5=Suzuki | first5=Y | last6=Yamamoto | first6=J | last7=Wakamatsu | first7=A | last8=Kimura | first8=K | last9=Sakamoto | first9=K | doi-access=free }}
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