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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 Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include heparin binding and metalloendopeptidase inhibitor activity. An important paralog of this gene is MFRP.

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

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

Proteomics data for PCOLCE2 Gene at MOPED

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.
genes like me logo Genes that share phenotypes with PCOLCE2: view

Animal Models for PCOLCE2 Gene

MGI Knock Outs for PCOLCE2:

Animal Model Products

CRISPR Products

miRNA for PCOLCE2 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for PCOLCE2 Gene

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

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000295992%0d%0a9606.ENSP00000305714%0d%0a9606.ENSP00000362304%0d%0a9606.ENSP00000286657%0d%0a9606.ENSP00000251582%0d%0a
Selected Interacting proteins: ENSP00000295992 for PCOLCE2 Gene via STRING

Gene Ontology (GO) - Biological Process for PCOLCE2 Gene

None

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

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



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

Protein tissue co-expression partners for PCOLCE2 Gene

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia PCOLCE2 36
  • 99 (a)
OneToOne
PCOLCE2 35
  • 99.52 (n)
  • 99.28 (a)
cow
(Bos Taurus)
Mammalia PCOLCE2 36
  • 94 (a)
OneToOne
PCOLCE2 35
  • 89 (n)
  • 94.22 (a)
dog
(Canis familiaris)
Mammalia PCOLCE2 35
  • 92.95 (n)
  • 94.96 (a)
PCOLCE2 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcolce2 16
Pcolce2 35
  • 85.57 (n)
  • 88.61 (a)
Pcolce2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCOLCE2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 5 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia PCOLCE2 35
  • 85.99 (n)
  • 88.86 (a)
chicken
(Gallus gallus)
Aves PCOLCE2 35
  • 78.18 (n)
  • 84.79 (a)
PCOLCE2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCOLCE2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcolce2 35
  • 75.49 (n)
  • 81.93 (a)
zebrafish
(Danio rerio)
Actinopterygii pcolce2a 36
  • 62 (a)
OneToMany
pcolce2b 36
  • 71 (a)
OneToMany
pcolce2b 35
  • 69.71 (n)
  • 73.1 (a)
zgc63590 35
fruit fly
(Drosophila melanogaster)
Insecta CG32702 36
  • 2 (a)
ManyToMany
CG42255 36
  • 3 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 36
  • 2 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for PCOLCE2:
  • 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
rs7772 -- 142,818,229(+) GGAAT(C/G)CTCTT utr-variant-3-prime
rs12413 -- 142,818,175(-) GCCTC(C/T)GAGAT utr-variant-3-prime
rs728517 -- 142,831,958(-) GATGT(A/T)ACATG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2725999 CNV Deletion 23290073
nsv877562 CNV Gain 21882294
esv270805 CNV Insertion 20981092
dgv75n17 CNV Loss 16327808

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

HapMap Linkage Disequilibrium report
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 23 67
  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 23
  3. 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. (PMID: 12063410) Steiglitz B.M. … Greenspan D.S. (Cytogenet. Cell Genet. 2001) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for PCOLCE2 Gene

Sources for PCOLCE2 Gene

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