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    PCOLCE2 procollagen C-endopeptidase enhancer 2 [ Homo sapiens (human) ]

    Gene ID: 26577, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PCOLCE2provided by HGNC
    Official Full Name
    procollagen C-endopeptidase enhancer 2provided by HGNC
    Primary source
    HGNC:HGNC:8739
    See related
    Ensembl:ENSG00000163710 MIM:607064; AllianceGenome:HGNC:8739
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCPE2
    Summary
    Enables collagen binding activity; heparin binding activity; and peptidase activator activity. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in fat (RPKM 75.7), heart (RPKM 31.8) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCOLCE2 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (142817874..142889083, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (145565117..145636326, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (142536716..142607925, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene plastin 1 Neighboring gene RN7SK pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14790 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:142443428-142444294 Neighboring gene transient receptor potential cation channel subfamily C member 1 Neighboring gene Sharpr-MPRA regulatory region 6947 Neighboring gene RNA, U7 small nuclear 47 pseudogene Neighboring gene ribosomal protein L8 pseudogene 3 Neighboring gene uncharacterized LOC124909443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14791 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:142635932-142636110 Neighboring gene Sharpr-MPRA regulatory region 3462 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:142677150-142678349 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:142681545-142681730 Neighboring gene hepatic lncRNA metabolic regulator 1 Neighboring gene progestin and adipoQ receptor family member 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. What does procollagen C-endopeptidase enhancer protein 2 have to do with HDL-cholesteryl ester uptake? Or how I learned to stop worrying and love reverse cholesterol transport? Sorci-Thomas MG, et al. Curr Opin Lipidol, 2015 Oct. PMID 26218419, Free PMC Article
    2. Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24. Xu H, et al. Genomics, 2000 Jun 15. PMID 10873381
    3. Regulation of apoAI processing by procollagen C-proteinase enhancer-2 and bone morphogenetic protein-1. Zhu J, et al. J Lipid Res, 2009 Jul. PMID 19237735, Free PMC Article
    4. 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. Steiglitz BM, et al. Cytogenet Cell Genet, 2001. PMID 12063410
    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. Steiglitz BM, et al. J Biol Chem, 2002 Dec 20. PMID 12393877

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Procollagen C-endopeptidase protein 2, atherosclerosis and HDL cholesteryl ester catabolism. [Review]
      Title: What does procollagen C-endopeptidase enhancer protein 2 have to do with HDL-cholesteryl ester uptake? Or how I learned to stop worrying and love reverse cholesterol transport?
    2. Data indicate that PCPE2 accelerates the proteolytic processing of pro-apolipoprotein (apo) AI by enhancing the cleavage of the hexapeptide extension present at the N terminus of apoAI.
      Title: Regulation of apoAI processing by procollagen C-proteinase enhancer-2 and bone morphogenetic protein-1.
    3. Assignment of Pcolce2 gene, which encodes procollagen C-proteinase enhancer protein 2, to human chromosome 3q23.
      Title: 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.
    4. PCPE2 is shown to be a glycoprotein that differs markedly in the nature of its glycosylation from that of PCPE1
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptidase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptidase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    procollagen C-endopeptidase enhancer 2
    Names
    procollagen C-proteinase enhancer 2
    procollagen COOH-terminal proteinase enhancer 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_013363.4 → NP_037495.1  procollagen C-endopeptidase enhancer 2 precursor

      See identical proteins and their annotated locations for NP_037495.1

      Status: VALIDATED

      Source sequence(s)
      AY358557
      Consensus CDS
      CCDS3127.1
      UniProtKB/Swiss-Prot
      B2RCH9, D3DNG4, Q9BRH3, Q9UKZ9
      UniProtKB/TrEMBL
      B3KQT8, Q53EK6
      Related
      ENSP00000295992.3, ENST00000295992.8
      Conserved Domains (2) summary
      cd00041
      Location:33 → 143
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd03576
      Location:292 → 415
      NTR_PCOLCE; NTR domain, PCOLCE subfamily; Procollagen C-endopeptidase enhancers (PCOLCEs) are extracellular matrix proteins that enhance the activity of procollagen C-proteases, by binding to the procollagen I C-peptide. They contain a C-terminal NTR domain, which ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      142817874..142889083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      145565117..145636326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKZ9.1 GenPept UniProtKB/Swiss-Prot:Q9UKZ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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