PCDHAC2

Protocadherin alpha-C2 is a protein that in humans is encoded by the PCDHAC2 gene.[5][6]

PCDHAC2
Identifiers
Aliases	PCDHAC2, PCDH-ALPHA-C2, protocadherin alpha subfamily C, 2
External IDs	OMIM: 606321 MGI: 1891443 HomoloGene: 49562 GeneCards: PCDHAC2
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.3 Start 140,966,470 bp[1] End 141,012,347 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 B3 Start 37,143,503 bp[2] End 37,187,657 bp[2]
Gene ontology Molecular function • calcium ion binding Cellular component • integral component of membrane • cell membrane • integral component of plasma membrane • membrane Biological process • cell adhesion • homophilic cell adhesion via plasma membrane adhesion molecules • cell-cell signaling • nervous system development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56134	353237
Ensembl	ENSG00000243232	ENSMUSG00000102697
UniProt	Q9Y5I4	Q91Y09
RefSeq (mRNA)	NM_031883 NM_018899	NM_001003672
RefSeq (protein)	NP_061722 NP_114089	NP_001003672
Location (UCSC)	Chr 5: 140.97 – 141.01 Mb	Chr 18: 37.14 – 37.19 Mb
PubMed search	[3]	[4]
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: ENSG00000243232 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000102697 - 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.
6. "Entrez Gene: PCDHAC2 protocadherin alpha subfamily C, 2".

Further reading

• 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.
• 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.
• 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.
• 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.
• 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.
• 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. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
• 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.