Alternative titles; symbols
HGNC Approved Gene Symbol: PCDHGA12
Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,430,507-141,512,975 (from NCBI)
Cadherins are calcium-dependent cell-cell adhesion molecules, and protocadherins constitute a subfamily of nonclassic cadherins. PCDHGA12 is 1 of 22 tandemly arranged genes within the PCDHG gene cluster (604968) on chromosome 5q31. The 22 PCDHG genes function as 'variable' exons that are individually spliced to a downstream constant region to form distinct PCDHG transcripts. The variable PCDHG exons encode the extracellular and transmembrane domains of the protocadherin protein, and the common region encodes the intracellular domain (Wu et al., 2001). For further information on the PCDHG genes, see 604968.
To elucidate the molecular basis of fibroblast cell-cell adhesion, Matsuyoshi and Imamura (1997) investigated cadherin expression in human fibroblasts by RT-PCR using degenerate primers based on well-conserved amino acid sequences of cadherins. They isolated a partial cDNA encoding PCDHGA12, which they called FIB3. RT-PCR analysis revealed that FIB3 is expressed at low levels in fibroblasts and keratinocytes but not in melanocytes.
By screening a brain cDNA library for genes with the potential to encode large proteins, Nagase et al. (1998) identified a cDNA encoding PCDHGA12, which they termed KIAA0588. The 932-amino acid protein, which is 70% identical PCDHGA8 (606295), is predicted to be involved in cell signaling. RT-PCR analysis detected ubiquitous expression that was weak only in spleen.
By PCR of a brain cDNA library, Wu and Maniatis (1999) cloned full-length PCDHGA12.
By genomic sequence analysis, Wu et al. (2001) mapped the PCDHGA12 gene to chromosome 5q31, between 2 pseudogenes, one adjacent to the PCDHGB7 gene (606304) and other adjacent to the PCDHGC3 gene (603627). They localized the mouse PCDHG genes to chromosome 18c.
Matsuyoshi, N., Imamura, S. Multiple cadherins are expressed in human fibroblasts. Biochem. Biophys. Res. Commun. 235: 355-358, 1997. [PubMed: 9199196] [Full Text: https://doi.org/10.1006/bbrc.1997.6707]
Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. 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: 31-39, 1998. [PubMed: 9628581] [Full Text: https://doi.org/10.1093/dnares/5.1.31]
Wu, Q., Maniatis, T. A striking organization of a large family of human neural cadherin-like cell adhesion genes. Cell 97: 779-790, 1999. [PubMed: 10380929] [Full Text: https://doi.org/10.1016/s0092-8674(00)80789-8]
Wu, Q., Zhang, T., Cheng, J.-F., Kim, Y., Grimwood, J., Schmutz, J., Dickson, M., Noonan, J. P., Zhang, M. Q., Myers, R. M., Maniatis, T. Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. Genome Res. 11: 389-404, 2001. [PubMed: 11230163] [Full Text: https://doi.org/10.1101/gr.167301]