Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24

Genomics. 2000 Jun 15;66(3):264-73. doi: 10.1006/geno.2000.6229.


A novel human Type I procollagen C-proteinase enhancer protein-like gene, PCOLCE2, was identified by sequencing an EST in the primary open-angle glaucoma (POAG) region on 3q21. The total cDNA encoded a 415-amino-acid protein that has 43% identity to the Type I procollagen C-proteinase enhancer protein (PCOLCE1). PCOLCE2 contains two CUB domains, which are thought to be involved in protein-protein interactions, and an NTR module. PCOLCE2 message is expressed in the trabecular meshwork, lungs, heart, brain, liver, skeletal muscle, kidney, pancreas, and placenta as a 2-kb message. PCOLCE2, a 52-kDa protein, is expressed in the trabecular meshwork. A novel gene, PCOLCE2, has been identified and characterized. Based upon its homology with collagen-binding proteins, its expression in the trabecular meshwork, and its chromosome location, PCOLCE2 is a candidate gene for GLC1C. However, no coding sequence mutations were detected in PCOLCE2 in a POAG patient from the GLC1C family.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Blotting, Northern
  • Chromosomes, Human, Pair 3 / genetics*
  • DNA Mutational Analysis
  • DNA, Complementary / analysis
  • DNA, Complementary / genetics
  • Expressed Sequence Tags
  • Extracellular Matrix Proteins
  • Glaucoma, Open-Angle / genetics*
  • Glycoproteins / biosynthesis
  • Glycoproteins / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Mice
  • Molecular Sequence Data
  • Organ Specificity
  • Protein Structure, Tertiary
  • RNA, Messenger / biosynthesis
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Trabecular Meshwork / metabolism


  • DNA, Complementary
  • Extracellular Matrix Proteins
  • Glycoproteins
  • Intracellular Signaling Peptides and Proteins
  • PCOLCE protein, human
  • PCOLCE2 protein, human
  • Pcolce protein, mouse
  • Pcolce2 protein, mouse
  • RNA, Messenger

Associated data

  • GENBANK/AF098269