Alternative titles; symbols
HGNC Approved Gene Symbol: CDH16
Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:66,908,122-66,918,885 (from NCBI)
Cadherins are calcium-dependent, membrane-associated glycoproteins. Members of this group are the principal mediators of homotypic cellular recognition and play a role in the morphogenic direction of tissue development. Thomson et al. (1995) identified rabbit Ksp-cadherin, a novel kidney-specific member of the cadherin family. Sequence analysis demonstrated that Ksp-cadherin, like LI-cadherin (CDH17; 603017), lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins, and possesses a truncated cytoplasmic domain. Northern blot analysis and immunolocalization studies in rabbit indicate that Ksp-cadherin expression is kidney-specific and limited to the basolateral membranes of renal tubular epithelial cells. By screening kidney libraries with rabbit Ksp-cadherin cDNAs, Thomson et al. (1998) isolated cDNAs encoding mouse and human Ksp-cadherin. The predicted 829-amino acid human protein shares 77% and 79% sequence identity with those of mouse and rabbit, respectively. Northern blot analysis revealed that Ksp-cadherin is expressed exclusively in kidney as a 3-kb mRNA in both human and mouse.
By fluorescence in situ hybridization, Thomson et al. (1998) mapped the Ksp-cadherin gene to human chromosome 16q21-q22. By analysis of an interspecific backcross, they mapped the mouse homolog to a region of mouse chromosome 8 showing homology of synteny to 16q21-proximal 16q22. In both human and mouse, the Ksp-cadherin gene is located within a cluster of several other cadherin genes, including CDH1 (192090), CDH3 (114021), CDH5 (601120), and CDH15 (114019).
Baudry and Jeanpierre (2000) assigned the CDH16 gene to chromosome 16q22.1 by radiation hybrid analysis.
Associations Pending Confirmation
In 3 brothers and their female second cousin from a consanguineous Saudi family (12DG1932) with late-onset retinitis pigmentosa (see 268000), in whom no mutations were detected in a 'Vision Panel' consisting of 322 genes associated with mendelian eye diseases, Patel et al. (2016) performed autozygosity mapping and identified a single novel locus on chromosome 16 (chr16:59,225,000-72,511,000; GRCh37). Whole-exome sequencing revealed only 1 rare variant within the locus: a homozygous missense mutation at a highly conserved residue in the CDH16 gene (c.950C-T, NM_004062.3; A317V) that segregated fully with disease in the family. The variant was not found in 615 Saudi exomes, but was present in heterozygosity in the ExAC database at low frequency (0.00006219). The authors concluded that although the biologic plausibility of CDH16 was unclear, it was a likely candidate for disease in this family.
Baudry, D., Jeanpierre, C. Assignment of E-cadherin (CDH1) and KSP-cadherin (CDH16) to chromosome 16q22.1 by radiation hybrid mapping. Cytogenet. Cell Genet. 88: 253-354, 2000. [PubMed: 10828602] [Full Text: https://doi.org/10.1159/000015531]
Patel, N., Aldahmesh, M. A., Alkuraya, H., Anazi, S., Alsharif, H., Khan, A. O., Sunker, A., Al-mohsen, S., Abboud, E. B., Nowilaty, S. R., Alowain, M., Al-Zaidan, H., and 18 others. Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Genet. Med. 18: 554-562, 2016. [PubMed: 26355662] [Full Text: https://doi.org/10.1038/gim.2015.127]
Thomson, R. B., Igarashi, P., Biemesderfer, D., Kim, R., Abu-Alfa, A., Soleimani, M., Aronson, P. S. Isolation and cDNA cloning of Ksp-cadherin, a novel kidney-specific member of the cadherin multigene family. J. Biol. Chem. 270: 17594-17601, 1995. [PubMed: 7615566] [Full Text: https://doi.org/10.1074/jbc.270.29.17594]
Thomson, R. B., Ward, D. C., Quaggin, S. E., Igarashi, P., Muckler, Z. E., Aronson, P. S. cDNA cloning and chromosomal localization of the human and mouse isoforms of Ksp-cadherin. Genomics 51: 445-451, 1998. [PubMed: 9721215] [Full Text: https://doi.org/10.1006/geno.1998.5402]