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

Summary

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, Dec 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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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?
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33034 (e-PCR)
- UniSTS:60698

G16602 (e-PCR)
- UniSTS:49226

D3S2824E (e-PCR)
- UniSTS:150860

RH12324 (e-PCR)
- UniSTS:42355

D3S4174 (e-PCR)
- UniSTS:40848

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)

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 ...