PCDHA6

Protocadherin alpha-6 is a protein that in humans is encoded by the PCDHA6 gene.[4][5][6]

PCDHA6
Identifiers
Aliases	PCDHA6, CNR2, CNRN2, CNRS2, CRNR2, PCDH-ALPHA6, protocadherin alpha 6
External IDs	OMIM: 606312 MGI: 1298367 HomoloGene: 75098 GeneCards: PCDHA6
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.3 Start 140,827,958 bp[1] End 141,012,347 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • calcium ion binding Cellular component • integral component of membrane • extracellular region • cell membrane • integral component of plasma membrane • membrane 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	56142	12937
Ensembl	ENSG00000081842	n/a
UniProt	Q9UN73	n/a
RefSeq (mRNA)	NM_031849 NM_018909 NM_031848	NM_007767
RefSeq (protein)	NP_061732 NP_114036 NP_114037	n/a
Location (UCSC)	Chr 5: 140.83 – 141.01 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

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: ENSG00000081842 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. Sugino H, Hamada S, Yasuda R, Tuji A, Matsuda Y, Fujita M, Yagi T (Apr 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.
6. "Entrez Gene: PCDHA6 protocadherin alpha 6".

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 (inactive 2020-05-21). PMID 10817752.
• 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.
• Senzaki K, Ogawa M, Yagi T (2000). "Proteins of the CNR family are multiple receptors for Reelin". Cell. 99 (6): 635–47. doi:10.1016/S0092-8674(00)81552-4. PMID 10612399.
• 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. 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.
• 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.