HGNC Approved Gene Symbol: PCOLCE2
Cytogenetic location: 3q23 Genomic coordinates (GRCh38) : 3:142,817,874-142,889,083 (from NCBI)
Xu et al. (2000) cloned PCOLCE2 from trabecular meshwork cell mRNA followed by 5-prime RACE. The deduced 415-amino acid protein contains an N-terminal signal sequence, 2 CUB domains, and an NTR domain. It also contains a putative myristoylation site, several potential phosphorylation sites, a putative glycosylation site, and an RGD site. PCOLCE2 shares about 43% sequence identity with the PCOLCE protein (600270). The secreted PCOLCE2 protein is calculated to have a molecular mass of about 47 kD. Northern blot analysis detected ubiquitous expression of a 2-kb transcript, with highest expression in heart, placenta, and trabecular meshwork, and very low expression in brain. Western blot analysis revealed a 52-kD form of PCOLCE2 in human fibroblast cells.
Steiglitz and Greenspan (2001) determined that the PCOLCE2 gene contains 10 exons and spans about 80 kb.
Xu et al. (2000) identified the PCOLCE2 sequence within an EST mapped to chromosome 3q21-q24. Steiglitz and Greenspan (2001) noted identity between the PCOLCE2 sequence and the sequence of a BAC clone mapped to 3q23. They found that PCOLCE2 lies 5.2 kb and 102.5 kb centromeric to the transient receptor potential channel-1 (TRPC1; 602343) and plastin-1 (PLS1; 602734), respectively. By radiation hybrid analysis, they mapped the mouse gene to chromosome 9.
Steiglitz, B. M., Greenspan, D. S. Assignment of the mouse Pcolce2 gene, which encodes procollagen C-proteinase enhancer protein 2, to chromosome 9 and localization of PCOLCE2 to human chromosome 3q23. Cytogenet. Cell Genet. 95: 244-245, 2001. [PubMed: 12063410] [Full Text: https://doi.org/10.1159/000059356]
Xu, H., Acott, T. S., Wirtz, M. K. Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24. Genomics 66: 264-273, 2000. [PubMed: 10873381] [Full Text: https://doi.org/10.1006/geno.2000.6229]