PCOLCE2
gene geneOn this page
Also known as PCPE2
Summary
PCOLCE2 (procollagen C-endopeptidase enhancer 2, HGNC:8739) is a protein-coding gene on chromosome 3q23, encoding Procollagen C-endopeptidase enhancer 2 (Q9UKZ9). Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1.
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.
Source: NCBI Gene 26577 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 87 total
- MANE Select transcript:
NM_013363
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8739 |
| Approved symbol | PCOLCE2 |
| Name | procollagen C-endopeptidase enhancer 2 |
| Location | 3q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PCPE2 |
| Ensembl gene | ENSG00000163710 |
| Ensembl biotype | protein_coding |
| OMIM | 607064 |
| Entrez | 26577 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000295992, ENST00000461818, ENST00000470310, ENST00000470795, ENST00000480473, ENST00000483454, ENST00000483986, ENST00000485766, ENST00000493733, ENST00000495732, ENST00000648195, ENST00000890789, ENST00000918017, ENST00000964678, ENST00000964679, ENST00000964680
RefSeq mRNA: 1 — MANE Select: NM_013363
NM_013363
CCDS: CCDS3127
Canonical transcript exons
ENST00000295992 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001077577 | 142817874 | 142818465 |
| ENSE00001136473 | 142888814 | 142889083 |
| ENSE00003484316 | 142820878 | 142821045 |
| ENSE00003500871 | 142848217 | 142848472 |
| ENSE00003550725 | 142838770 | 142838906 |
| ENSE00003601685 | 142829692 | 142829846 |
| ENSE00003602030 | 142842924 | 142843048 |
| ENSE00003665621 | 142823532 | 142823615 |
| ENSE00003675817 | 142887669 | 142887777 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 99.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.4899 / max 788.2511, expressed in 1043 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44866 | 4.0667 | 684 |
| 44860 | 2.6961 | 731 |
| 44862 | 1.9296 | 326 |
| 44859 | 1.1021 | 389 |
| 44864 | 0.5527 | 197 |
| 44863 | 0.5476 | 188 |
| 44861 | 0.2130 | 104 |
| 44865 | 0.1967 | 86 |
| 44858 | 0.1852 | 112 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 99.76 | gold quality |
| tibia | UBERON:0000979 | 99.61 | gold quality |
| synovial joint | UBERON:0002217 | 99.44 | gold quality |
| renal glomerulus | UBERON:0000074 | 99.09 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.09 | gold quality |
| right coronary artery | UBERON:0001625 | 99.00 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 98.95 | gold quality |
| tendon | UBERON:0000043 | 98.74 | gold quality |
| pericardium | UBERON:0002407 | 98.50 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.47 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.42 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.31 | gold quality |
| coronary artery | UBERON:0001621 | 98.26 | gold quality |
| left coronary artery | UBERON:0001626 | 98.21 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.04 | gold quality |
| ascending aorta | UBERON:0001496 | 98.01 | gold quality |
| adipose tissue | UBERON:0001013 | 97.28 | gold quality |
| saphenous vein | UBERON:0007318 | 97.22 | gold quality |
| vena cava | UBERON:0004087 | 97.20 | gold quality |
| parietal pleura | UBERON:0002400 | 97.11 | gold quality |
| apex of heart | UBERON:0002098 | 97.05 | gold quality |
| connective tissue | UBERON:0002384 | 97.04 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.97 | gold quality |
| aorta | UBERON:0000947 | 96.80 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.56 | gold quality |
| omental fat pad | UBERON:0010414 | 96.44 | gold quality |
| peritoneum | UBERON:0002358 | 96.40 | gold quality |
| trachea | UBERON:0003126 | 96.36 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 96.20 | gold quality |
| urethra | UBERON:0000057 | 96.18 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8322 | yes | 2398.65 |
| E-CURD-119 | yes | 26.28 |
| E-HCAD-1 | yes | 17.34 |
| E-GEOD-111727 | no | 31.73 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting PCOLCE2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4325 | 99.49 | 72.20 | 1342 |
| HSA-MIR-3171 | 99.49 | 69.06 | 776 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-500A-5P | 98.76 | 69.13 | 1241 |
| HSA-MIR-3611 | 98.76 | 68.76 | 1290 |
| HSA-MIR-6761-5P | 98.71 | 68.03 | 1504 |
| HSA-MIR-6792-5P | 98.39 | 68.16 | 1330 |
| HSA-MIR-6881-3P | 98.04 | 68.24 | 1777 |
| HSA-MIR-7703 | 97.64 | 67.00 | 965 |
| HSA-MIR-7161-3P | 96.79 | 68.79 | 798 |
| HSA-MIR-4268 | 94.45 | 64.09 | 819 |
Literature-anchored findings (GeneRIF, showing 4)
- Assignment of Pcolce2 gene, which encodes procollagen C-proteinase enhancer protein 2, to human chromosome 3q23. (PMID:12063410)
- PCPE2 is shown to be a glycoprotein that differs markedly in the nature of its glycosylation from that of PCPE1 (PMID:12393877)
- 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. (PMID:19237735)
- Procollagen C-endopeptidase protein 2, atherosclerosis and HDL cholesteryl ester catabolism. [Review] (PMID:26218419)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pcolce2a | ENSDARG00000008450 |
| danio_rerio | pcolce2b | ENSDARG00000055575 |
| mus_musculus | Pcolce2 | ENSMUSG00000015354 |
| rattus_norvegicus | PCOLCE2 | ENSRNOG00000046848 |
Paralogs (35): NRXN3 (ENSG00000021645), TLL1 (ENSG00000038295), CP (ENSG00000047457), DCBLD2 (ENSG00000057019), HEPH (ENSG00000089472), TLL2 (ENSG00000095587), NRP1 (ENSG00000099250), PCOLCE (ENSG00000106333), CNTNAP3 (ENSG00000106714), CUBN (ENSG00000107611), CNTNAP1 (ENSG00000108797), NRXN2 (ENSG00000110076), MEP1A (ENSG00000112818), NRP2 (ENSG00000118257), CUZD1 (ENSG00000138161), MFGE8 (ENSG00000140545), MEP1B (ENSG00000141434), PDGFC (ENSG00000145431), CNTNAP4 (ENSG00000152910), CNTNAP3B (ENSG00000154529), CNTNAP5 (ENSG00000155052), CDCP2 (ENSG00000157211), EDIL3 (ENSG00000164176), NETO1 (ENSG00000166342), BMP1 (ENSG00000168487), PDGFD (ENSG00000170962), NETO2 (ENSG00000171208), CNTNAP2 (ENSG00000174469), NRXN1 (ENSG00000179915), HEPHL1 (ENSG00000181333), F8 (ENSG00000185010), ASTL (ENSG00000188886), F5 (ENSG00000198734), MFRP (ENSG00000235718), CNTNAP3C (ENSG00000283378)
Protein
Protein identifiers
Procollagen C-endopeptidase enhancer 2 — Q9UKZ9 (reviewed: Q9UKZ9)
Alternative names: Procollagen COOH-terminal proteinase enhancer 2
All UniProt accessions (5): A0A3B3ITE8, C9JYX9, Q9UKZ9, H7C520, H7C5D5
UniProt curated annotations — full annotation on UniProt →
Function. Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1.
Subunit / interactions. Interacts with heparin with high affinity, and type I or II collagen.
Subcellular location. Secreted.
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.
Post-translational modifications. O-glycosylated; contains sialic acid.
RefSeq proteins (1): NP_037495* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000859 | CUB_dom | Domain |
| IPR001134 | Netrin_domain | Domain |
| IPR008993 | TIMP-like_OB-fold | Homologous_superfamily |
| IPR018933 | Netrin_module_non-TIMP | Domain |
| IPR035814 | NTR_PCOLCE | Domain |
| IPR035914 | Sperma_CUB_dom_sf | Homologous_superfamily |
Pfam: PF00431, PF01759
UniProt features (15 total): disulfide bond 7, domain 3, sequence variant 2, signal peptide 1, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKZ9-F1 | 82.00 | 0.46 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (7): 297–364, 301–367, 312–415, 33–59, 86–107, 154–181, 208–231
Glycosylation sites (1): 355
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
MSigDB gene sets: 164 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_RESPONSE_TO_PEPTIDE, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, CHANDRAN_METASTASIS_DN, CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, BILD_E2F3_ONCOGENIC_SIGNATURE, RIGGI_EWING_SARCOMA_PROGENITOR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, ONDER_CDH1_TARGETS_2_UP, RICKMAN_HEAD_AND_NECK_CANCER_A, GOMF_GLYCOSAMINOGLYCAN_BINDING
GO Biological Process (1): cellular response to leukemia inhibitory factor (GO:1990830)
GO Molecular Function (4): collagen binding (GO:0005518), heparin binding (GO:0008201), peptidase activator activity (GO:0016504), protein binding (GO:0005515)
GO Cellular Component (1): extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Collagen formation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular response to cytokine stimulus | 1 |
| response to leukemia inhibitory factor | 1 |
| protein-containing complex binding | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| enzyme activator activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1102 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCOLCE2 | PLS1 | Q14651 | 826 |
| PCOLCE2 | NTSR1 | P30989 | 759 |
| PCOLCE2 | TRPC1 | P48995 | 666 |
| PCOLCE2 | SCARB1 | Q8WTV0 | 507 |
| PCOLCE2 | COL1A1 | P02452 | 459 |
| PCOLCE2 | GPC6 | Q9Y625 | 449 |
| PCOLCE2 | THBS1 | P07996 | 442 |
| PCOLCE2 | COL6A1 | P12109 | 438 |
| PCOLCE2 | CMTM4 | Q8IZR5 | 425 |
| PCOLCE2 | CLU | P10909 | 420 |
| PCOLCE2 | CILP | O75339 | 412 |
| PCOLCE2 | FOXL2NB | Q6ZUU3 | 411 |
| PCOLCE2 | COL6A2 | P12110 | 410 |
| PCOLCE2 | SERPINH1 | P29043 | 400 |
| PCOLCE2 | PI16 | Q6UXB8 | 390 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OLFM1 | OLFM2 | psi-mi:“MI:0914”(association) | 0.640 |
| PCOLCE2 | ZWINT | psi-mi:“MI:0915”(physical association) | 0.560 |
| PCOLCE2 | ZWINT | psi-mi:“MI:0914”(association) | 0.560 |
| DKK3 | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| ALPG | ALPP | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A51 | PCOLCE2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRADD | HNRNPCL2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SUSD4 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| PSG1 | IKBKB | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM1 | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| ST14 | LIPT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3L1 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS13 | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| VNN1 | SMAD7 | psi-mi:“MI:0914”(association) | 0.350 |
| PCOLCE2 | KLK7 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| SLC17A9 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (36): STRN4 (Affinity Capture-MS), ZWINT (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), ZWINT (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), PCOLCE2 (Affinity Capture-MS), PCOLCE2 (Synthetic Lethality)
ESM2 similar proteins: A8WCC4, D3ZTD8, J3RZ81, O14786, O35276, O35375, O57472, O60462, P07224, P07225, P21956, P28824, P48740, P53813, P60755, P60756, P70490, P79795, P85171, P97333, P98064, P98118, Q08761, Q0PMG2, Q0WYX8, Q12866, Q13591, Q16819, Q28520, Q2VWQ2, Q60805, Q62217, Q62919, Q7Z553, Q86TH1, Q8BR86, Q8CHN8, Q8CI19, Q8IZU9, Q8NFP4
Diamond homologs: A0A0C5PRQ1, A0FKN6, A0JNA2, A8Q2D1, C6K2K4, C9D7R3, D2KBH9, D5FM34, D5FM37, D5FM38, K7Z9Q9, O16977, O17264, O35276, O35375, O43897, O57382, O57460, O60462, O60494, O70244, P07584, P0DM61, P0DM62, P13497, P28825, P28826, P31579, P31580, P31581, P42674, P55112, P55113, P55114, P55115, P84748, P91828, P98060, P98061, P98068
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1797 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:142820874:TCA:T | donor_loss | 1.0000 |
| 3:142820875:CA:C | donor_loss | 1.0000 |
| 3:142820876:ACCTC:A | donor_loss | 1.0000 |
| 3:142820877:CCT:C | donor_gain | 1.0000 |
| 3:142821041:TAATA:T | acceptor_gain | 1.0000 |
| 3:142821042:AATA:A | acceptor_gain | 1.0000 |
| 3:142821043:ATA:A | acceptor_gain | 1.0000 |
| 3:142821044:TA:T | acceptor_gain | 1.0000 |
| 3:142821044:TAC:T | acceptor_loss | 1.0000 |
| 3:142821045:AC:A | acceptor_loss | 1.0000 |
| 3:142821046:C:CC | acceptor_gain | 1.0000 |
| 3:142821047:T:C | acceptor_loss | 1.0000 |
| 3:142829690:AC:A | donor_gain | 1.0000 |
| 3:142829691:CC:C | donor_gain | 1.0000 |
| 3:142838761:GCTAC:G | donor_loss | 1.0000 |
| 3:142838762:CTACT:C | donor_loss | 1.0000 |
| 3:142838763:TACTT:T | donor_loss | 1.0000 |
| 3:142838764:ACT:A | donor_loss | 1.0000 |
| 3:142838765:CTT:C | donor_loss | 1.0000 |
| 3:142838766:T:TC | donor_loss | 1.0000 |
| 3:142838767:T:TC | donor_loss | 1.0000 |
| 3:142838768:A:AC | donor_gain | 1.0000 |
| 3:142838768:A:G | donor_loss | 1.0000 |
| 3:142838768:ACG:A | donor_gain | 1.0000 |
| 3:142838769:C:CA | donor_gain | 1.0000 |
| 3:142838769:CG:C | donor_gain | 1.0000 |
| 3:142838769:CGC:C | donor_gain | 1.0000 |
| 3:142838769:CGCA:C | donor_gain | 1.0000 |
| 3:142838769:CGCAG:C | donor_gain | 1.0000 |
| 3:142838796:T:A | donor_gain | 1.0000 |
AlphaMissense
2729 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:142829778:C:T | G260E | 0.999 |
| 3:142829779:C:A | G260W | 0.999 |
| 3:142829820:A:G | L246P | 0.999 |
| 3:142838848:T:A | D211V | 0.999 |
| 3:142838849:C:A | D211Y | 0.999 |
| 3:142838849:C:G | D211H | 0.999 |
| 3:142842948:C:A | W183C | 0.999 |
| 3:142842948:C:G | W183C | 0.999 |
| 3:142842954:A:C | C181W | 0.999 |
| 3:142842955:C:G | C181S | 0.999 |
| 3:142842955:C:T | C181Y | 0.999 |
| 3:142842956:A:G | C181R | 0.999 |
| 3:142842956:A:T | C181S | 0.999 |
| 3:142848255:A:C | F137C | 0.999 |
| 3:142848255:A:G | F137S | 0.999 |
| 3:142848345:C:G | C107S | 0.999 |
| 3:142848345:C:T | C107Y | 0.999 |
| 3:142848346:A:T | C107S | 0.999 |
| 3:142848399:T:A | D89V | 0.999 |
| 3:142848399:T:G | D89A | 0.999 |
| 3:142848400:C:A | D89Y | 0.999 |
| 3:142848400:C:G | D89H | 0.999 |
| 3:142848447:A:G | L73P | 0.999 |
| 3:142887678:C:A | W61C | 0.999 |
| 3:142887678:C:G | W61C | 0.999 |
| 3:142887685:C:G | C59S | 0.999 |
| 3:142887686:A:T | C59S | 0.999 |
| 3:142829775:A:G | F261S | 0.998 |
| 3:142829799:T:A | D253V | 0.998 |
| 3:142829808:A:G | F250S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000010847 (3:142824002 G>A), RS1000012598 (3:142873890 C>T), RS1000075500 (3:142880348 T>C,G), RS1000075550 (3:142829624 T>A,C), RS1000079428 (3:142867641 G>A), RS1000084425 (3:142844721 A>G), RS1000144185 (3:142873557 G>T), RS1000148721 (3:142879452 A>G), RS1000260482 (3:142873813 C>G,T), RS1000324721 (3:142890943 C>A), RS1000401078 (3:142824123 A>C,G), RS1000485097 (3:142854610 T>C), RS1000531441 (3:142829935 C>A,T), RS1000617673 (3:142825744 A>G), RS1000628434 (3:142831454 A>C)
Disease associations
OMIM: gene MIM:607064 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002712_1 | Red blood cell fatty acid levels | 1.000000e-10 |
| GCST006585_1677 | Blood protein levels | 3.000000e-59 |
| GCST006979_304 | Heel bone mineral density | 2.000000e-10 |
| GCST007096_209 | Pulse pressure | 4.000000e-11 |
| GCST90011898_151 | Alanine aminotransferase levels | 3.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006808 | arachidonic acid measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0005763 | pulse pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, decreases expression, increases expression, increases reaction | 4 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, increases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 3 |
| Valproic Acid | affects expression, increases expression | 3 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | affects methylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| potassium chromate(VI) | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| avobenzone | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Pioglitazone | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2A3 | Abcam HeLa PCOLCE2 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.