PCDHGA12

PCDHGA12
Identifiers
Aliases	PCDHGA12 , CDH21, FIB3, PCDH-GAMMA-A12, protocadherin gamma subfamily A, 12
External IDs	OMIM: 603059; MGI: 1935229; HomoloGene: 134588; GeneCards: PCDHGA12; OMA:PCDHGA12 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 141,430,507 bp [1] End 141,512,975 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B3 Start 37,898,633 bp [2] End 37,974,926 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium gonad caudate nucleus right coronary artery amygdala nucleus accumbens left adrenal gland right lung left adrenal cortex gallbladder Top expressed in Meckel's cartilage humerus occiput occipital bone chondrocranium temporal bone lower leg dental papilla ganglionic eminence sphenoid bone 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 cell-cell junction Biological process homophilic cell adhesion via plasma membrane adhesion molecules cell adhesion cell-cell signaling nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26025 93724 Ensembl ENSG00000253159 ENSMUSG00000102428 UniProt O60330 Q91XY7 RefSeq (mRNA) NM_032094 NM_003735 NM_033595 RefSeq (protein) NP_003726 NP_115265 NP_291073 Location (UCSC) Chr 5: 141.43 – 141.51 Mb Chr 18: 37.9 – 37.97 Mb PubMed search [3] [4]
Wikidata
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Protocadherin gamma-A12 is a protein that in humans is encoded by the PCDHGA12 gene. ^{[5] [6]}

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000253159 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000102428 – 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: PCDHGA12 protocadherin gamma subfamily A, 12".

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. S2CID   44844497.
• 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.
• 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.
• Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi: 10.1093/dnares/5.1.31 . PMID   9628581.
• Matsuyoshi N, Imamura S (1997). "Multiple cadherins are expressed in human fibroblasts". Biochem. Biophys. Res. Commun. 235 (2): 355–8. doi:10.1006/bbrc.1997.6707. PMID   9199196.