PCDHA12

PCDHA12
Identifiers
Aliases	PCDHA12, PCDH-ALPHA12, protocadherin alpha 12
External IDs	OMIM: 606318 MGI: 1298408 HomoloGene: 135720 GeneCards: PCDHA12
Gene location (Human)
Chr.	Chromosome 5 (human)
End	141,012,347 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	37,320,710 bp
RNA expression pattern
	Top expressed in
	cerebellum; ; cerebellar cortex; ; cerebellar hemisphere; ; islet of Langerhans; ; prefrontal cortex; ; ganglionic eminence; ; gallbladder; ; superior frontal gyrus; ; kidney; ; upper lobe of left lung;
	Top expressed in
	granular layer; ; soleus muscle; ; Purkinje cell; ; tibialis anterior muscle; ; Region I of hippocampus proper; ; superior frontal gyrus; ; ganglion; ; hippocampus proper; ; neural tube; ; ganglionic eminence;
	More reference expression data
	n/a
Gene ontology
Molecular function	calcium ion binding;
Cellular component	integral component of membrane; plasma membrane; membrane; integral component of plasma membrane;
Biological process	homophilic cell adhesion via plasma membrane adhesion molecules; cell adhesion; cell-cell signaling; nervous system development;
	Sources:Amigo / QuickGO
Orthologs
	56137
	12943
	ENSG00000251664
	ENSMUSG00000007440
	Q9UN75
	Q91Y20
	NM_031864; NM_018903
	NM_009961
	NP_061726; NP_114070
	NP_034091
	Wikidata
View/Edit Human	View/Edit Mouse

Protocadherin alpha-12 is a protein that in humans is encoded by the PCDHA12 gene.^[5]^[6]

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.^[6]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000251664 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000007440 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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. S2CID 6014717.
^ ^a ^b "Entrez Gene: PCDHA12 protocadherin alpha 12".

Further reading[edit]

Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. doi:10.1101/gad.14.10.1169. PMID 10817752. S2CID 44844497.
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.
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 & Child Neurology. 34 (7): 593–603. doi:10.1111/j.1469-8749.1992.tb11490.x. PMID 1380929. S2CID 28807066.
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 (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. Bibcode:2000PNAS...97.3124W. doi:10.1073/pnas.060027397. PMC 16203. 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:10.1101/gr.167301. PMC 311048. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. Bibcode:2004Natur.431..268S. doi:10.1038/nature02919. PMID 15372022. S2CID 4373053.
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:10.1093/dnares/12.2.117. PMID 16303743.

This protein-related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000251664 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000007440 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10380929-5] 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. S2CID 6014717.

[entrez-6] "Entrez Gene: PCDHA12 protocadherin alpha 12".

[1]

[2]

[3]

[4]

[5]

[6]

PCDHA12

References[edit]

Further reading[edit]

Premium Membership

€4.95

Create a Premium Account quick and easy

Save your Favourite Pages

Listen to any page in Audio

Colour Night Mode