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Aliases for PCOLCE2 Gene

Aliases for PCOLCE2 Gene

  • Procollagen C-Endopeptidase Enhancer 2 2 3 3 5
  • Procollagen COOH-Terminal Proteinase Enhancer 2 3 4
  • Procollagen C-Proteinase Enhancer 2 3 4
  • PCPE2 3 4
  • PCPE-2 4

External Ids for PCOLCE2 Gene

Previous GeneCards Identifiers for PCOLCE2 Gene

  • GC03M139515
  • GC03M143365
  • GC03M143816
  • GC03M143857
  • GC03M144019
  • GC03M142534
  • GC03M139909

Summaries for PCOLCE2 Gene

GeneCards Summary for PCOLCE2 Gene

PCOLCE2 (Procollagen C-Endopeptidase Enhancer 2) is a Protein Coding gene. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include heparin binding and metalloendopeptidase inhibitor activity. An important paralog of this gene is PCOLCE.

UniProtKB/Swiss-Prot for PCOLCE2 Gene

  • Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1.

Gene Wiki entry for PCOLCE2 Gene

Additional gene information for PCOLCE2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCOLCE2 Gene

Genomics for PCOLCE2 Gene

GeneHancer (GH) Regulatory Elements for PCOLCE2 Gene

Promoters and enhancers for PCOLCE2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J142887 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 655.8 +0.5 472 1.7 SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF143 SP3 REST SMARCA4 CTCF PCOLCE2 ATR U2SURP RPL8P3
GH03J142940 Enhancer 1 ENCODE 15.9 -52.4 -52412 2.9 FOXA2 MLX ARID4B ZNF48 ETS1 YY1 SLC30A9 ATF7 RUNX3 NFKBIZ PCOLCE2 PAQR9 LOC100507389 GC03P142958
GH03J142849 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.3 +38.6 38579 2 ATF1 PKNOX1 FOXA2 ARNT ARID4B TCF12 ATF7 RUNX3 RXRA SP5 PBX2P1 XRN1 PCOLCE2 GK5 ATR LOC100507389 RPL8P3
GH03J142976 Enhancer 1.2 Ensembl ENCODE 10.8 -87.8 -87762 1.5 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF2 ZNF766 CBX5 FOS LOC100507389 PCOLCE2 ENSG00000241679 U2SURP PAQR9-AS1 GC03P142958 LOC100289361 GC03M142971
GH03J142862 Enhancer 1 Ensembl ENCODE dbSUPER 11.8 +25.6 25617 1.9 SMARCC1 ZNF189 MAX CEBPB SIN3A ZBTB8A SP1 POLR2A CEBPA ZSCAN5C PCOLCE2 LOC100507389 PLS1 RNA5SP143 RPL8P3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCOLCE2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PCOLCE2 Gene

Genomic Locations for PCOLCE2 Gene
73,282 bases
Minus strand
73,282 bases
Minus strand

Genomic View for PCOLCE2 Gene

Genes around PCOLCE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCOLCE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCOLCE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCOLCE2 Gene

Proteins for PCOLCE2 Gene

  • Protein details for PCOLCE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Procollagen C-endopeptidase enhancer 2
    Protein Accession:
    Secondary Accessions:
    • B2RCH9
    • D3DNG4
    • Q9BRH3

    Protein attributes for PCOLCE2 Gene

    415 amino acids
    Molecular mass:
    45717 Da
    Quaternary structure:
    • Interacts with heparin with high affinity, and type I or II collagen.

neXtProt entry for PCOLCE2 Gene

Post-translational modifications for PCOLCE2 Gene

Other Protein References for PCOLCE2 Gene

No data available for DME Specific Peptides for PCOLCE2 Gene

Domains & Families for PCOLCE2 Gene

Gene Families for PCOLCE2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PCOLCE2 Gene

Suggested Antigen Peptide Sequences for PCOLCE2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCOLCE2: view

No data available for UniProtKB/Swiss-Prot for PCOLCE2 Gene

Function for PCOLCE2 Gene

Molecular function for PCOLCE2 Gene

UniProtKB/Swiss-Prot Function:
Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1.

Phenotypes From GWAS Catalog for PCOLCE2 Gene

Gene Ontology (GO) - Molecular Function for PCOLCE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005518 collagen binding IDA 12393877
GO:0008201 heparin binding IDA 12393877
GO:0016504 peptidase activator activity IDA 12393877
genes like me logo Genes that share ontologies with PCOLCE2: view
genes like me logo Genes that share phenotypes with PCOLCE2: view

Animal Models for PCOLCE2 Gene

MGI Knock Outs for PCOLCE2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PCOLCE2

miRNA for PCOLCE2 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCOLCE2 Gene

Localization for PCOLCE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCOLCE2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCOLCE2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCOLCE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with PCOLCE2: view

Pathways & Interactions for PCOLCE2 Gene

genes like me logo Genes that share pathways with PCOLCE2: view

Pathways by source for PCOLCE2 Gene

Gene Ontology (GO) - Biological Process for PCOLCE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010952 positive regulation of peptidase activity IEA --
GO:1990830 cellular response to leukemia inhibitory factor IEA --
genes like me logo Genes that share ontologies with PCOLCE2: view

No data available for SIGNOR curated interactions for PCOLCE2 Gene

Drugs & Compounds for PCOLCE2 Gene

No Compound Related Data Available

Transcripts for PCOLCE2 Gene

mRNA/cDNA for PCOLCE2 Gene

Unigene Clusters for PCOLCE2 Gene

Procollagen C-endopeptidase enhancer 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCOLCE2 Gene

No ASD Table

Relevant External Links for PCOLCE2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCOLCE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCOLCE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCOLCE2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x8.4), Artery - Coronary (x5.4), and Artery - Aorta (x4.9).

Protein differential expression in normal tissues from HIPED for PCOLCE2 Gene

This gene is overexpressed in Heart (23.9), Placenta (14.9), Milk (14.3), and Prostate (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCOLCE2 Gene

Protein tissue co-expression partners for PCOLCE2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCOLCE2 Gene:


SOURCE GeneReport for Unigene cluster for PCOLCE2 Gene:


mRNA Expression by UniProt/SwissProt for PCOLCE2 Gene:

Tissue specificity: Highly expressed in the heart, trabecular meshwork, pituitary gland, bladder, mammary gland, trachea and placenta and weakly expressed in the brain. Expressed in cartilage.

Evidence on tissue expression from TISSUES for PCOLCE2 Gene

  • Heart(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with PCOLCE2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PCOLCE2 Gene

Orthologs for PCOLCE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCOLCE2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCOLCE2 34 33
  • 99.52 (n)
(Canis familiaris)
Mammalia PCOLCE2 34 33
  • 92.95 (n)
(Bos Taurus)
Mammalia PCOLCE2 34 33
  • 89 (n)
(Rattus norvegicus)
Mammalia PCOLCE2 33
  • 85.99 (n)
(Mus musculus)
Mammalia Pcolce2 16 34 33
  • 85.57 (n)
(Monodelphis domestica)
Mammalia PCOLCE2 34
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 5 (a)
(Gallus gallus)
Aves PCOLCE2 34 33
  • 78.18 (n)
(Anolis carolinensis)
Reptilia PCOLCE2 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcolce2 33
  • 75.49 (n)
(Danio rerio)
Actinopterygii pcolce2b 34 33
  • 69.71 (n)
pcolce2a 34
  • 62 (a)
zgc63590 33
fruit fly
(Drosophila melanogaster)
Insecta CG42255 34
  • 3 (a)
CG32702 34
  • 2 (a)
(Caenorhabditis elegans)
Secernentea ZC116.3 34
  • 2 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
Species where no ortholog for PCOLCE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCOLCE2 Gene

Gene Tree for PCOLCE2 (if available)
Gene Tree for PCOLCE2 (if available)
Evolutionary constrained regions (ECRs) for PCOLCE2: view image

Paralogs for PCOLCE2 Gene

Paralogs for PCOLCE2 Gene

(8) SIMAP similar genes for PCOLCE2 Gene using alignment to 5 proteins:

  • H7C520_HUMAN
  • H7C5D5_HUMAN
  • L8E804_HUMAN
genes like me logo Genes that share paralogs with PCOLCE2: view

Variants for PCOLCE2 Gene

Sequence variations from dbSNP and Humsavar for PCOLCE2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000010847 -- 142,824,002(-) G/A intron_variant
rs1000012598 -- 142,873,890(-) C/T intron_variant
rs1000075500 -- 142,880,348(-) T/G intron_variant
rs1000075550 -- 142,829,624(-) T/C intron_variant
rs1000079428 -- 142,867,641(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCOLCE2 Gene

Variant ID Type Subtype PubMed ID
dgv75n17 CNV loss 16327808
esv2725999 CNV deletion 23290073
esv3306529 CNV mobile element insertion 20981092
esv3326706 CNV insertion 20981092
esv3569030 CNV loss 25503493
nsv1000631 CNV gain 25217958

Variation tolerance for PCOLCE2 Gene

Residual Variation Intolerance Score: 58.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCOLCE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCOLCE2 Gene

Disorders for PCOLCE2 Gene

Additional Disease Information for PCOLCE2

No disorders were found for PCOLCE2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCOLCE2 Gene

Publications for PCOLCE2 Gene

  1. Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24. (PMID: 10873381) Xu H … Wirtz MK (Genomics 2000) 2 3 4 22 58
  2. Regulation of apoAI processing by procollagen C-proteinase enhancer-2 and bone morphogenetic protein-1. (PMID: 19237735) Zhu J … Francone OL (Journal of lipid research 2009) 3 22 58
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  5. PCOLCE2 encodes a functional procollagen C-proteinase enhancer (PCPE2) that is a collagen-binding protein differing in distribution of expression and post-translational modification from the previously described PCPE1. (PMID: 12393877) Steiglitz BM … Greenspan DS (The Journal of biological chemistry 2002) 3 4 58

Products for PCOLCE2 Gene

Sources for PCOLCE2 Gene

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