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Aliases for PCOLCE2 Gene

Aliases for PCOLCE2 Gene

  • Procollagen C-Endopeptidase Enhancer 2 2 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. Diseases associated with PCOLCE2 include Glaucoma 1, Open Angle, E. Among its related pathways are Collagen biosynthesis and modifying enzymes and Degradation of the extracellular matrix. 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

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

Genomics for PCOLCE2 Gene

Regulatory Elements for PCOLCE2 Gene

Enhancers for PCOLCE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PCOLCE2 on UCSC Golden Path with GeneCards custom track

Promoters for PCOLCE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCOLCE2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCOLCE2 Gene

Chromosome:
3
Start:
142,815,922 bp from pter
End:
142,889,203 bp from pter
Size:
73,282 bases
Orientation:
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:
    Q9UKZ9-PCOC2_HUMAN
    Recommended name:
    Procollagen C-endopeptidase enhancer 2
    Protein Accession:
    Q9UKZ9
    Secondary Accessions:
    • B2RCH9
    • D3DNG4
    • Q9BRH3

    Protein attributes for PCOLCE2 Gene

    Size:
    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

Antibody Products

No data available for DME Specific Peptides for PCOLCE2 Gene

Domains & Families for PCOLCE2 Gene

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

Q9UKZ9

UniProtKB/Swiss-Prot:

PCOC2_HUMAN :
  • Contains 2 CUB domains.
Domain:
  • Contains 2 CUB domains.
  • Contains 1 NTR domain.
genes like me logo Genes that share domains with PCOLCE2: view

No data available for Gene Families 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.

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

CRISPR Products

miRNA for PCOLCE2 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCOLCE2 Gene COMPARTMENTS Subcellular localization image for PCOLCE2 gene
Compartment Confidence
extracellular 5
cytosol 2
mitochondrion 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PCOLCE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
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

Interacting Proteins 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 --
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

Unigene Clusters for PCOLCE2 Gene

Procollagen C-endopeptidase enhancer 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PCOLCE2 Gene

GeneLoc Exon Structure for
PCOLCE2
ECgene alternative splicing isoforms for
PCOLCE2

Expression for PCOLCE2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for PCOLCE2 Gene



Protein tissue co-expression partners for PCOLCE2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCOLCE2 Gene:

PCOLCE2

SOURCE GeneReport for Unigene cluster for PCOLCE2 Gene:

Hs.8944

mRNA Expression by UniProt/SwissProt for PCOLCE2 Gene:

Q9UKZ9-PCOC2_HUMAN
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.
genes like me logo Genes that share expression patterns with PCOLCE2: view

Primer Products

Orthologs for PCOLCE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCOLCE2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCOLCE2 34
  • 89 (n)
  • 94.22 (a)
PCOLCE2 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCOLCE2 34
  • 92.95 (n)
  • 94.96 (a)
PCOLCE2 35
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcolce2 34
  • 85.57 (n)
  • 88.61 (a)
Pcolce2 16
Pcolce2 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCOLCE2 34
  • 99.52 (n)
  • 99.28 (a)
PCOLCE2 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia PCOLCE2 34
  • 85.99 (n)
  • 88.86 (a)
oppossum
(Monodelphis domestica)
Mammalia PCOLCE2 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 5 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PCOLCE2 34
  • 78.18 (n)
  • 84.79 (a)
PCOLCE2 35
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCOLCE2 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcolce2 34
  • 75.49 (n)
  • 81.93 (a)
zebrafish
(Danio rerio)
Actinopterygii pcolce2b 34
  • 69.71 (n)
  • 73.1 (a)
zgc63590 34
pcolce2a 35
  • 62 (a)
OneToMany
pcolce2b 35
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32702 35
  • 2 (a)
ManyToMany
CG42255 35
  • 3 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 35
  • 2 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PCOLCE2 (if available)
TreeFam:
Gene Tree for PCOLCE2 (if available)

Paralogs for PCOLCE2 Gene

Paralogs for PCOLCE2 Gene

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

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 Sequence Context AA Info Type
rs17554211 - 142,823,607(+) GGTGG(G/T)TTTTA reference, missense
rs35692900 - 142,829,718(-) GCCTG(C/T)CACCA reference, missense
rs893883 -- 142,848,485(+) GAAAA(A/G)CGCCA intron-variant
rs893884 -- 142,848,741(+) ATTAG(A/G)TCAGT intron-variant
rs920466 -- 142,861,242(-) tacaa(C/G)tctct 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)

Relevant External Links for PCOLCE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCOLCE2

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

Disorders for PCOLCE2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCOLCE2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
glaucoma 1, open angle, e
  • primary open angle glaucoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PCOLCE2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCOLCE2
genes like me logo Genes that share disorders with PCOLCE2: view

No data available for 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 M.K. (Genomics 2000) 2 3 4 22 65
  2. Regulation of apoAI processing by procollagen C-proteinase enhancer-2 and bone morphogenetic protein-1. (PMID: 19237735) Zhu J. … Francone O.L. (J. Lipid Res. 2009) 3 22 65
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4 65
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 65
  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 B.M. … Greenspan D.S. (J. Biol. Chem. 2002) 3 4 65

Products for PCOLCE2 Gene

Sources for PCOLCE2 Gene

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