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) [1] Band 5q31.3 Start 140,875,302 bp [1] End 141,012,347 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B3 Start 37,138,256 bp [2] End 37,320,710 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 56137 12943 Ensembl ENSG00000251664 ENSMUSG00000007440 UniProt Q9UN75 Q91Y20 RefSeq (mRNA) NM_031864 NM_018903 NM_009961 RefSeq (protein) NP_061726 NP_114070 NP_034091 Location (UCSC) Chr 5: 140.88 – 141.01 Mb Chr 18: 37.14 – 37.32 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000251664 - Ensembl, May 2017
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.
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.
6. "Entrez Gene: PCDHA12 protocadherin alpha 12".

Further reading

• 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.