PCDHA2

PCDHA2
Identifiers
Aliases	PCDHA2 , PCDH-ALPHA2, protocadherin alpha 2
External IDs	OMIM: 606308; MGI: 2681880; HomoloGene: 135719; GeneCards: PCDHA2; OMA:PCDHA2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 140,794,852 bp [1] End 141,012,347 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B2- B3 Start 37,072,258 bp [2] End 37,320,710 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence right hemisphere of cerebellum stromal cell of endometrium prefrontal cortex islet of Langerhans ventricular zone pituitary gland anterior pituitary Brodmann area 9 anterior cingulate cortex Top expressed in spermatid spermatocyte testicle neural tube ganglionic eminence cerebellar cortex dentate gyrus of hippocampal formation granule cell hippocampus proper mesencephalon primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane nucleus endoplasmic reticulum Biological process cell adhesion nervous system development homophilic cell adhesion via plasma membrane adhesion molecules cell-cell signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56146 353234 Ensembl ENSG00000204969 ENSMUSG00000104148 UniProt Q9Y5H9 n/a RefSeq (mRNA) NM_031496 NM_018905 NM_031495 NM_198117 RefSeq (protein) NP_061728 NP_113683 NP_113684 n/a Location (UCSC) Chr 5: 140.79 – 141.01 Mb Chr 18: 37.07 – 37.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin alpha-2 is a protein that in humans is encoded by the PCDHA2 gene. ^{[5] [6]}

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000204969 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000104148 – 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: PCDHA2 protocadherin alpha 2".

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.
• 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.
• Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID   12665801. S2CID   23783563.
• 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.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.