PCDH12

PCDH12
Identifiers
Aliases	PCDH12 , VE-cadherin-2, VECAD2, protocadherin 12, DMJDS1
External IDs	OMIM: 605622 MGI: 1855700 HomoloGene: 9574 GeneCards: PCDH12
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 141,943,581 bp [1] End 141,969,741 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B3 Start 38,400,142 bp [2] End 38,417,455 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta right lung vena cava spleen upper lobe of lung upper lobe of left lung cardia synovial joint lower lobe of lung saphenous vein Top expressed in left lung lobe renal corpuscle right lung lobe dermis spermatocyte digastric muscle body of femur myocardium of ventricle spleen yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane cell junction plasma membrane integral component of plasma membrane extracellular exosome membrane cell-cell junction extracellular region Biological process glycogen metabolic process calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules labyrinthine layer development neuron recognition homophilic cell adhesion via plasma membrane adhesion molecules cell adhesion cell-cell signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51294 53601 Ensembl ENSG00000113555 ENSMUSG00000024440 UniProt Q9NPG4 O55134 RefSeq (mRNA) NM_016580 NM_017378 RefSeq (protein) NP_057664 NP_059074 Location (UCSC) Chr 5: 141.94 – 141.97 Mb Chr 18: 38.4 – 38.42 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin-12 is a protein that in humans is encoded by the PCDH12 gene. ^{[5] [6] [7]}

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no effect on cell migration or growth. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000113555 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024440 - 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 (Apr 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.
6. 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.
7. "Entrez Gene: PCDH12 protocadherin 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.
• Telo' P, Breviario F, Huber P, et al. (1998). "Identification of a novel cadherin (vascular endothelial cadherin-2) located at intercellular junctions in endothelial cells". J. Biol. Chem. 273 (28): 17565–72. doi: 10.1074/jbc.273.28.17565 . PMID   9651350. S2CID   25010153.
• Ludwig D, Lorenz J, Dejana E, et al. (2001). "cDNA cloning, chromosomal mapping, and expression analysis of human VE-Cadherin-2". Mamm. Genome. 11 (11): 1030–3. doi:10.1007/s003350010186. PMID   11063261. S2CID   35069268.
• 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.
• 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.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039. S2CID   21903526.