PCDHGC3

PCDHGC3
Identifiers
Aliases	PCDHGC3 , PC43, PCDH-GAMMA-C3, PCDH2, protocadherin gamma subfamily C, 3
External IDs	OMIM: 603627 MGI: 1935201 HomoloGene: 31099 GeneCards: PCDHGC3
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 141,475,947 bp [1] End 141,512,977 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18 B3|18 19.67 cM Start 37,939,417 bp [2] End 37,974,926 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in canal of the cervix right lung anterior pituitary right coronary artery upper lobe of left lung ascending aorta ganglionic eminence gastric mucosa left uterine tube amygdala Top expressed in ganglionic eminence cerebellum cerebellar cortex white adipose tissue olfactory bulb lung hippocampus proper superior frontal gyrus lip hypothalamus 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 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules homophilic cell adhesion via plasma membrane adhesion molecules cell adhesion cell-cell signaling nervous system development synapse organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5098 93706 Ensembl ENSG00000240184 ENSMUSG00000102918 UniProt Q9UN70 n/a RefSeq (mRNA) NM_032403 NM_002588 NM_032402 NM_033581 RefSeq (protein) NP_002579 NP_115778 NP_115779 n/a Location (UCSC) Chr 5: 141.48 – 141.51 Mb Chr 18: 37.94 – 37.97 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene. ^{[5] [6] [7]}

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000240184 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000102918 - 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. Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science. 278 (5341): 1315–8. Bibcode:1997Sci...278.1315L. doi:10.1126/science.278.5341.1315. PMID   9360932. S2CID   43492826.
6. Sano K, Tanihara H, Heimark RL, Obata S, Davidson M, St John T, Taketani S, Suzuki S (Jul 1993). "Protocadherins: a large family of cadherin-related molecules in central nervous system". EMBO J. 12 (6): 2249–56. doi:10.1002/j.1460-2075.1993.tb05878.x. PMC   413453 . PMID   8508762.
7. "Entrez Gene: PCDHGC3 protocadherin gamma subfamily C, 3".

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.
• Obata S, Sago H, Mori N, et al. (1997). "Protocadherin Pcdh2 shows properties similar to, but distinct from, those of classical cadherins". J. Cell Sci. 108 (12): 3765–73. doi:10.1242/jcs.108.12.3765. PMID   8719883.
• Obata S, Sago H, Mori N, et al. (1999). "A common protocadherin tail: multiple protocadherins share the same sequence in their cytoplasmic domains and are expressed in different regions of brain". Cell Adhes. Commun. 6 (4): 323–33. doi: 10.3109/15419069809010791 . PMID   9865466.
• Wu Q, Maniatis T (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.
• 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.
• 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.
• Reiss K, Maretzky T, Haas IG, et al. (2006). "Regulated ADAM10-dependent ectodomain shedding of gamma-protocadherin C3 modulates cell-cell adhesion". J. Biol. Chem. 281 (31): 21735–44. doi: 10.1074/jbc.M602663200 . PMID   16751190. S2CID   38025891.