Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26577
Gene name	Procollagen C-endopeptidase enhancer 2
Gene symbol	PCOLCE2
Synonyms (NCBI Gene)	PCPE2
Chromosome	3
Chromosome location	3q23

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024608	hsa-miR-215-5p	Microarray	19074876
MIRT026916	hsa-miR-192-5p	Microarray	19074876
MIRT030184	hsa-miR-26b-5p	Microarray	19088304
MIRT047213	hsa-miR-182-5p	CLASH	23622248
MIRT1218368	hsa-miR-376c	CLIP-seq
MIRT1218369	hsa-miR-4694-3p	CLIP-seq
MIRT1218370	hsa-miR-522	CLIP-seq
MIRT1218371	hsa-miR-548an	CLIP-seq
MIRT1218372	hsa-miR-607	CLIP-seq
MIRT2291568	hsa-miR-214	CLIP-seq
MIRT2291569	hsa-miR-22	CLIP-seq
MIRT2291570	hsa-miR-2277-3p	CLIP-seq
MIRT2291571	hsa-miR-3619-5p	CLIP-seq
MIRT2291572	hsa-miR-3660	CLIP-seq
MIRT2291573	hsa-miR-4268	CLIP-seq
MIRT2291574	hsa-miR-4448	CLIP-seq
MIRT2291575	hsa-miR-4526	CLIP-seq
MIRT2291576	hsa-miR-4690-5p	CLIP-seq
MIRT2291577	hsa-miR-4742-5p	CLIP-seq
MIRT2291578	hsa-miR-761	CLIP-seq
MIRT2291569	hsa-miR-22	CLIP-seq
MIRT2589167	hsa-miR-337-3p	CLIP-seq
MIRT2589168	hsa-miR-3607-5p	CLIP-seq
MIRT2589169	hsa-miR-3611	CLIP-seq
MIRT2291573	hsa-miR-4268	CLIP-seq
MIRT2291574	hsa-miR-4448	CLIP-seq
MIRT2589170	hsa-miR-4709-3p	CLIP-seq
MIRT2589171	hsa-miR-4736	CLIP-seq
MIRT2589172	hsa-miR-516a-3p	CLIP-seq
MIRT2589173	hsa-miR-657	CLIP-seq
MIRT2291568	hsa-miR-214	CLIP-seq
MIRT2291569	hsa-miR-22	CLIP-seq
MIRT2291570	hsa-miR-2277-3p	CLIP-seq
MIRT2687268	hsa-miR-3117-5p	CLIP-seq
MIRT2687269	hsa-miR-3133	CLIP-seq
MIRT2589167	hsa-miR-337-3p	CLIP-seq
MIRT2589168	hsa-miR-3607-5p	CLIP-seq
MIRT2589169	hsa-miR-3611	CLIP-seq
MIRT2291571	hsa-miR-3619-5p	CLIP-seq
MIRT2687270	hsa-miR-3917	CLIP-seq
MIRT2291573	hsa-miR-4268	CLIP-seq
MIRT2291574	hsa-miR-4448	CLIP-seq
MIRT2687271	hsa-miR-4511	CLIP-seq
MIRT2291576	hsa-miR-4690-5p	CLIP-seq
MIRT2589170	hsa-miR-4709-3p	CLIP-seq
MIRT2589171	hsa-miR-4736	CLIP-seq
MIRT2291577	hsa-miR-4742-5p	CLIP-seq
MIRT2589172	hsa-miR-516a-3p	CLIP-seq
MIRT2687272	hsa-miR-642a	CLIP-seq
MIRT2589173	hsa-miR-657	CLIP-seq
MIRT2291578	hsa-miR-761	CLIP-seq
MIRT2687273	hsa-miR-875-5p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005518	Function	Collagen binding	IBA
GO:0005518	Function	Collagen binding	IDA	12393877
GO:0005518	Function	Collagen binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0008201	Function	Heparin binding	IDA	12393877
GO:0008201	Function	Heparin binding	IEA
GO:0016504	Function	Peptidase activator activity	IBA
GO:0016504	Function	Peptidase activator activity	IDA	12393877
GO:0016504	Function	Peptidase activator activity	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
607064	8739	ENSG00000163710

Q9UKZ9

Protein name

Procollagen C-endopeptidase enhancer 2 (Procollagen COOH-terminal proteinase enhancer 2) (PCPE-2) (Procollagen C-proteinase enhancer 2)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00431	CUB	33 → 141	CUB domain	Domain
PF00431	CUB	154 → 265	CUB domain	Domain
PF01759	NTR	309 → 412	UNC-6/NTR/C345C module	Domain

Tissue specificity

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. {ECO:0000269|PubMed:10873381, ECO:0000269|PubMed:11597177, ECO

Sequence

MRGANAWAPLCLLLAAATQLSRQQSPERPVFTCGGILTGESGFIGSEGFPGVYPPNSKCT
WKITVPEGKVVVLNFRFIDLESDNLCRYDFVDVYNGHANGQRIGRFCGTFRPGALVSSGN
KMMVQMISDANTAGNGFMAMFSAAEPNERGDQYCGGLLDRPSGSFKTPNWPDRDYPAGVT
CVWHIVAPKNQLIELKFEKFDVERDNYCRYDYVAVFNGGEVNDARRIGKYCGDSPPAPIV
SERNELLIQFLSDLSLTADGFIGHYIFRPKKLPTTTEQPVTTTFPVTTGLKPTVALCQQK
CRRTGTLEGNYCSSDFVLAGTVITTITRDGSLHATVSIINIYKEGNLAIQQAGKNMSARL
TVVCKQCPLLRRGLNYIIMGQVGEDGRGKIMPNSFIMMFKTKNQKLLDALKNKQC

Sequence length

415

Interactions

View interactions

	Reactome
			Collagen biosynthesis and modifying enzymes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Cardiomyopathy Restrictive	Associate	27233359	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	36910014	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	34789836, 38466182	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	28427244, 32705173	★★★★★ ★☆☆☆☆ Found in Text Mining only
Job Syndrome	Associate	32541515	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Associate	32886284	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	32541515	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	35789544	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	35127296, 35462469, 36973787, 40615671	★★★★★ ★☆☆☆☆ Found in Text Mining only

PCOLCE2 (procollagen C-endopeptidase enhancer 2)