CNPY2
gene geneOn this page
Also known as HP10390ZSIG9
Summary
CNPY2 (canopy FGF signaling regulator 2, HGNC:13529) is a protein-coding gene on chromosome 12q13.3, encoding Protein canopy homolog 2 (Q9Y2B0). Positive regulator of neurite outgrowth by stabilizing myosin regulatory light chain (MRLC). It is a selective cancer dependency (DepMap: 10.8% of cell lines).
Predicted to be active in endoplasmic reticulum.
Source: NCBI Gene 10330 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 36 total — 1 likely-pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 10.8% of screened cell lines
- MANE Select transcript:
NM_014255
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13529 |
| Approved symbol | CNPY2 |
| Name | canopy FGF signaling regulator 2 |
| Location | 12q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HP10390, ZSIG9 |
| Ensembl gene | ENSG00000257727 |
| Ensembl biotype | protein_coding |
| OMIM | 605861 |
| Entrez | 10330 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 13 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000273308, ENST00000546388, ENST00000546466, ENST00000546937, ENST00000547570, ENST00000548013, ENST00000551276, ENST00000551286, ENST00000551475, ENST00000551720, ENST00000553164, ENST00000553191, ENST00000929941, ENST00000929942, ENST00000929943, ENST00000929944, ENST00000929945, ENST00000929946, ENST00000929947, ENST00000929948, ENST00000971705, ENST00000971706
RefSeq mRNA: 2 — MANE Select: NM_014255
NM_001190991, NM_014255
CCDS: CCDS8914
Canonical transcript exons
ENST00000273308 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001182210 | 56315821 | 56315988 |
| ENSE00003492315 | 56315130 | 56315242 |
| ENSE00003508337 | 56309844 | 56310595 |
| ENSE00003549965 | 56311211 | 56311414 |
| ENSE00003612430 | 56314851 | 56314966 |
| ENSE00003786464 | 56310958 | 56311054 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 98.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 83.1399 / max 706.0477, expressed in 1824 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131510 | 30.6878 | 1813 |
| 131509 | 25.2303 | 1812 |
| 131508 | 15.9393 | 1799 |
| 131507 | 9.5951 | 1750 |
| 131512 | 1.2370 | 806 |
| 131506 | 0.3576 | 160 |
| 131513 | 0.0928 | 21 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 98.81 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.49 | gold quality |
| pituitary gland | UBERON:0000007 | 98.44 | gold quality |
| body of pancreas | UBERON:0001150 | 98.35 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.00 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.89 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.88 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.88 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.86 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.84 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.77 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.63 | gold quality |
| right ovary | UBERON:0002118 | 97.63 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.61 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.60 | gold quality |
| rectum | UBERON:0001052 | 97.51 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.47 | gold quality |
| body of stomach | UBERON:0001161 | 97.43 | gold quality |
| left ovary | UBERON:0002119 | 97.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.29 | gold quality |
| thyroid gland | UBERON:0002046 | 97.28 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.26 | gold quality |
| ascending aorta | UBERON:0001496 | 97.25 | gold quality |
| endocervix | UBERON:0000458 | 97.24 | gold quality |
| pancreas | UBERON:0001264 | 97.22 | gold quality |
| right uterine tube | UBERON:0001302 | 97.22 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.22 | gold quality |
| left coronary artery | UBERON:0001626 | 97.21 | gold quality |
| tibial nerve | UBERON:0001323 | 97.14 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.10 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 23.54 |
| E-MTAB-7606 | no | 648.26 |
| E-HCAD-31 | no | 20.58 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| MYLIP | Repression |
miRNA regulators (miRDB)
23 targeting CNPY2, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-6826-3P | 98.19 | 66.32 | 1153 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-6835-5P | 95.81 | 64.27 | 500 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 10.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 14)
- MSAP is a novel MIR-interacting protein that enhances neurite outgrowth and increases myosin regulatory light chain in fetal and adult brain. (PMID:12826659)
- Our results are consistent with an important role of FGF21 and Cnpy2/Msap in the regulation of LDLRs in cultured cells. (PMID:22378787)
- CNPY2 is a HIF-1alpha-regulated, secreted angiogenic growth factor that promotes smooth muscle cell migration, proliferation, and tissue revascularization. (PMID:25589425)
- CNPY2 may play a critical role in colorectal cancer development by enhancing cell proliferation, migration, and angiogenesis and by inhibiting apoptosis through negative regulation of the p53 pathway (PMID:26835537)
- These findings suggested that CNPY2 promoted cancer cell growth in renal cell carcinoma cells through regulating TP53 gene expression. (PMID:28235487)
- CNPY2 isoform2 represents as a novel and valuable prognostic indicator for colorectal cancer patients. (PMID:29135454)
- Overexpression of CNPY2 can activate the AKT/GSK3beta pathway, which leads to the inactivation of GSK-3beta. The inactivation of GSK-3beta increases the level of Snail, and then decreases the expression of E-cadherin to promote EMT. (PMID:29569784)
- CNPY2 can serve as a therapeutic target to promote the effect of chemotherapy in non-small cell lung cancer. (PMID:29864955)
- This study showed that serum CNPY2 isoform 2 may be a valuable biomarker for the early detection of colorectal cancer and presents an improvement in the diagnostic efficiency by combination of CEA and CA19-9. (PMID:30070972)
- CNPY2 knockout resulted in the significant suppression of MHCC97H cell proliferation, tumor growth, and hemorrhage. (PMID:30415246)
- Knockout of Cnpy2 resulted in up-regulation of p16(INK4a). (PMID:31047986)
- miR30a3p suppresses the proliferation and migration of lung adenocarcinoma cells by downregulating CNPY2. (PMID:31894275)
- Sleeping Beauty insertional mutagenesis screen identifies the pro-metastatic roles of CNPY2 and ACTN2 in hepatocellular carcinoma tumor progression. (PMID:33482578)
- Hypoxia-induced CNPY2 upregulation promotes glycolysis in cervical cancer through activation of AKT pathway. (PMID:33721832)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cnpy2 | ENSMUSG00000025381 |
| rattus_norvegicus | Cnpy2 | ENSRNOG00000003549 |
| drosophila_melanogaster | sel | FBGN0263260 |
| caenorhabditis_elegans | Y47H9C.8 | WBGENE00012951 |
| caenorhabditis_elegans | WBGENE00017165 | |
| caenorhabditis_elegans | WBGENE00017169 |
Paralogs (2): CNPY1 (ENSG00000146910), (ENSG00000283128)
Protein
Protein identifiers
Protein canopy homolog 2 — Q9Y2B0 (reviewed: Q9Y2B0)
Alternative names: MIR-interacting saposin-like protein, Putative secreted protein Zsig9, Transmembrane protein 4
All UniProt accessions (5): Q9Y2B0, F8VXJ7, F8W1K5, H0YI18, H0YIH9
UniProt curated annotations — full annotation on UniProt →
Function. Positive regulator of neurite outgrowth by stabilizing myosin regulatory light chain (MRLC). It prevents MIR-mediated MRLC ubiquitination and its subsequent proteasomal degradation.
Subunit / interactions. Interacts with MYLIP/MIR.
Subcellular location. Endoplasmic reticulum.
Tissue specificity. Expressed in different tissues. Highest levels are detected in adult placenta, liver and pancreas.
Similarity. Belongs to the canopy family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2B0-1 | 1 | yes |
| Q9Y2B0-2 | 2 |
RefSeq proteins (1): NP_055070* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008139 | SaposinB_dom | Domain |
| IPR021852 | DUF3456 | Domain |
| IPR042415 | CNPY | Family |
Pfam: PF11938
UniProt features (10 total): disulfide bond 3, splice variant 2, signal peptide 1, chain 1, domain 1, short sequence motif 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2B0-F1 | 84.95 | 0.57 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 115
Disulfide bonds (3): 28–171, 31–164, 86–137
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 153 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, BOYAULT_LIVER_CANCER_SUBCLASS_G2, MEF2_02, GOBP_LOW_DENSITY_LIPOPROTEIN_PARTICLE_CLEARANCE, GOBP_PLASMA_LIPOPROTEIN_PARTICLE_CLEARANCE, MORF_ATOX1, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, MORF_PPP2R4, GARY_CD5_TARGETS_DN, AFP1_Q6, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_REGULATION_OF_PLASMA_LIPOPROTEIN_PARTICLE_LEVELS, TIEN_INTESTINE_PROBIOTICS_24HR_UP
GO Biological Process (2): negative regulation of gene expression (GO:0010629), regulation of low-density lipoprotein particle clearance (GO:0010988)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| gene expression | 1 |
| regulation of gene expression | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| regulation of lipoprotein particle clearance | 1 |
| low-density lipoprotein particle clearance | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
712 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNPY2 | MYL11 | Q96A32 | 883 |
| CNPY2 | PSAPL1 | Q6NUJ1 | 859 |
| CNPY2 | LRRTM4 | Q86VH4 | 854 |
| CNPY2 | MYLIP | Q8WY64 | 848 |
| CNPY2 | MYL12B | O14950 | 827 |
| CNPY2 | PSAP | P07292 | 748 |
| CNPY2 | CNPY4 | Q8N129 | 644 |
| CNPY2 | CNPY3 | Q9BT09 | 577 |
| CNPY2 | PTPRS | Q13332 | 535 |
| CNPY2 | LRRTM1 | Q86UE6 | 497 |
| CNPY2 | XPR1 | Q9UBH6 | 497 |
| CNPY2 | HSPA5 | P11021 | 472 |
| CNPY2 | GPC4 | O75487 | 430 |
| CNPY2 | NGF | P01138 | 430 |
| CNPY2 | PLAU | P00749 | 424 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ADRA2C | CNPY2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNPY2 | MYLIP | psi-mi:“MI:0915”(physical association) | 0.510 |
| MYLIP | CNPY2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| COL1A1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.500 |
| CNPY2 | psi-mi:“MI:0407”(direct interaction) | 0.410 | |
| CNPY2 | TRIM28 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CNPY2 | HSP90B1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CNPY2 | ECE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | CNPY2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| BCK | NOL9 | psi-mi:“MI:0914”(association) | 0.350 |
| CNPY2 | COL2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM24 | DDTL | psi-mi:“MI:0914”(association) | 0.350 |
| MAP3K7 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK4 | TBCA | psi-mi:“MI:0914”(association) | 0.350 |
| MYLK4 | AP3D1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDIA5 | MBL2 | psi-mi:“MI:0914”(association) | 0.350 |
| CNPY2 | GBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| VENTX | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| GATA2 | EFCAB5 | psi-mi:“MI:0914”(association) | 0.350 |
| TCTN1 | TOR1A | psi-mi:“MI:2364”(proximity) | 0.270 |
| TCTN1 | PLOD2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| AXL | ILVBL | psi-mi:“MI:2364”(proximity) | 0.270 |
| EPHA10 | PLOD2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| DDX6 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PINX1 | CNPY2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TNIK | CNPY2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (92): MAP1S (Co-fractionation), CNPY2 (Proximity Label-MS), KIF22 (Affinity Capture-MS), DLG3 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), CTC1 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), FBXL4 (Affinity Capture-MS), COL2A1 (Affinity Capture-MS), OBFC1 (Affinity Capture-MS), GNB1L (Affinity Capture-MS), WDR45B (Affinity Capture-MS), CNPY2 (Affinity Capture-RNA), CNPY2 (Affinity Capture-MS), CNPY2 (Reconstituted Complex)
ESM2 similar proteins: A2BD09, A3KNS2, A5GFQ5, P15943, P24338, Q01580, Q06175, Q06186, Q06335, Q06481, Q08AE8, Q08DX0, Q09118, Q0P5N1, Q0VCT2, Q0VDN7, Q13438, Q2L6K8, Q3MHX6, Q3SWX1, Q58D79, Q58T08, Q5HZV5, Q5MJS3, Q5RKH6, Q68BL7, Q6GN40, Q701R2, Q86VZ4, Q8BHP7, Q8BQ47, Q8CB67, Q8CD91, Q8K2C7, Q8N129, Q8TEQ0, Q92563, Q96C34, Q96KC8, Q99075
Diamond homologs: Q2L6L1, Q3B7I2, Q4VAB4, Q5M7D4, Q7JXF7, Q9QXT0, Q9Y2B0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 29 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1679340 | NM_014255.7(CNPY2):c.46_50del (p.Gly16fs) | Likely pathogenic |
SpliceAI
1727 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:56309964:A:AC | donor_gain | 1.0000 |
| 12:56309965:C:CC | donor_gain | 1.0000 |
| 12:56310508:T:TA | donor_gain | 1.0000 |
| 12:56311051:CACA:C | acceptor_gain | 1.0000 |
| 12:56311053:CA:C | acceptor_gain | 1.0000 |
| 12:56311055:C:CC | acceptor_gain | 1.0000 |
| 12:56311064:C:CT | acceptor_gain | 1.0000 |
| 12:56311064:C:T | acceptor_gain | 1.0000 |
| 12:56311065:A:T | acceptor_gain | 1.0000 |
| 12:56311206:CTCA:C | donor_loss | 1.0000 |
| 12:56311208:CA:C | donor_loss | 1.0000 |
| 12:56311209:A:AC | donor_gain | 1.0000 |
| 12:56311209:A:AT | donor_loss | 1.0000 |
| 12:56311210:C:CC | donor_gain | 1.0000 |
| 12:56314846:GTTAC:G | donor_loss | 1.0000 |
| 12:56314847:TTA:T | donor_loss | 1.0000 |
| 12:56314847:TTACC:T | donor_loss | 1.0000 |
| 12:56314848:TACCT:T | donor_loss | 1.0000 |
| 12:56314849:A:T | donor_loss | 1.0000 |
| 12:56314850:C:G | donor_loss | 1.0000 |
| 12:56314850:CCTCC:C | donor_loss | 1.0000 |
| 12:56314852:T:TA | donor_gain | 1.0000 |
| 12:56314967:C:CC | acceptor_gain | 1.0000 |
| 12:56315053:T:TA | donor_gain | 1.0000 |
| 12:56315098:T:TA | donor_gain | 1.0000 |
| 12:56315124:CTTTA:C | donor_loss | 1.0000 |
| 12:56315125:TTTAC:T | donor_loss | 1.0000 |
| 12:56315126:TTAC:T | donor_loss | 1.0000 |
| 12:56315127:TACCT:T | donor_loss | 1.0000 |
| 12:56315128:A:AT | donor_loss | 1.0000 |
AlphaMissense
1186 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:56310972:C:G | C164S | 1.000 |
| 12:56310973:A:T | C164S | 1.000 |
| 12:56311362:C:T | C86Y | 1.000 |
| 12:56311386:A:G | L78P | 1.000 |
| 12:56310588:A:C | C171W | 0.999 |
| 12:56310589:C:A | C171F | 0.999 |
| 12:56310589:C:G | C171S | 0.999 |
| 12:56310589:C:T | C171Y | 0.999 |
| 12:56310590:A:G | C171R | 0.999 |
| 12:56310590:A:T | C171S | 0.999 |
| 12:56310971:G:C | C164W | 0.999 |
| 12:56310972:C:T | C164Y | 0.999 |
| 12:56310973:A:G | C164R | 0.999 |
| 12:56311052:A:C | C137W | 0.999 |
| 12:56311053:C:A | C137F | 0.999 |
| 12:56311053:C:T | C137Y | 0.999 |
| 12:56311054:A:G | C137R | 0.999 |
| 12:56311344:T:C | Y92C | 0.999 |
| 12:56311361:A:C | C86W | 0.999 |
| 12:56311362:C:G | C86S | 0.999 |
| 12:56311363:A:G | C86R | 0.999 |
| 12:56311363:A:T | C86S | 0.999 |
| 12:56311399:A:G | S74P | 0.999 |
| 12:56314870:C:A | G62V | 0.999 |
| 12:56314871:C:A | G62C | 0.999 |
| 12:56314882:A:G | I58T | 0.999 |
| 12:56314885:C:G | R57P | 0.999 |
| 12:56314887:G:C | F56L | 0.999 |
| 12:56314887:G:T | F56L | 0.999 |
| 12:56314888:A:C | F56C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000664012 (12:56317908 G>A), RS1000680863 (12:56317021 G>A), RS1000807604 (12:56313446 T>C), RS1001056227 (12:56316740 G>A,T), RS1001494557 (12:56316635 C>T), RS1001649017 (12:56309709 A>G), RS1001826742 (12:56312562 ATTCTTTTTTTTT>A), RS1002828373 (12:56313169 C>T), RS1002833588 (12:56314153 T>C), RS1003694539 (12:56315405 G>A), RS1003831638 (12:56315184 C>A,G), RS1003924927 (12:56311003 G>A,T), RS1004060889 (12:56311315 G>A,T), RS1004234907 (12:56315690 C>G), RS1004526244 (12:56317522 A>C)
Disease associations
OMIM: gene MIM:605861 | disease phenotypes: MIM:123100
GenCC curated gene-disease
Mondo (1): craniosynostosis (MONDO:0015469)
Orphanet (1): Craniosynostosis (Orphanet:1531)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003336_8 | Waist circumference adjusted for body mass index | 4.000000e-09 |
| GCST008839_427 | Height | 1.000000e-189 |
| GCST010002_217 | Refractive error | 6.000000e-174 |
| GCST90090967_21 | Height | 1.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003398 | Craniosynostoses | C05.116.099.370.894.232; C05.660.207.240; C05.660.906.364; C16.131.621.207.240; C16.131.621.906.364 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067216 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.81 | Kd | 15.6 | nM | CHEMBL5653589 |
| 7.61 | ED50 | 24.84 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148100: Binding affinity to human CNPY2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0156 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Vorinostat | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| deoxynivalenol | decreases expression | 1 |
| methylselenic acid | decreases expression | 1 |
| nivalenol | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Atrazine | decreases expression | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ouabain | affects expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phenobarbital | affects expression | 1 |
| Selenium | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651142 | Binding | Binding affinity to human CNPY2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2UP | Abcam HEK293T CNPY2 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
17 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00722436 | PHASE4 | TERMINATED | Tranexamic Acid for Craniofacial Surgery |
| NCT02188576 | PHASE4 | COMPLETED | The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery |
| NCT02229968 | PHASE2 | ACTIVE_NOT_RECRUITING | Efficacy of Amicar for Children Having Craniofacial Surgery |
| NCT00912119 | PHASE1 | COMPLETED | Amicar Pharmacokinetics of Children Having Craniofacial Surgery |
| NCT00077831 | Not specified | COMPLETED | Child and Infant Learning Project |
| NCT00106977 | Not specified | COMPLETED | Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) |
| NCT00367796 | Not specified | COMPLETED | Genetic Analysis of Craniosynostosis, Philadelphia Type |
| NCT00769847 | Not specified | WITHDRAWN | Endoscopic Treatment for Isolated, Single Suture Craniosynostosis |
| NCT00773643 | Not specified | COMPLETED | Osteogenic Profiling of Tissue From Children With Craniosynostosis |
| NCT01898650 | Not specified | COMPLETED | MRI for Non-invasive Evaluation of Brain Stress |
| NCT02287805 | Not specified | COMPLETED | Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care |
| NCT02561728 | Not specified | WITHDRAWN | Hanger Helmet Study |
| NCT03025763 | Not specified | ACTIVE_NOT_RECRUITING | Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones |
| NCT03231085 | Not specified | COMPLETED | Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child |
| NCT04704284 | Not specified | COMPLETED | Comparing MRI to CT on Pediatric Craniosynostosis. |
| NCT05911139 | Not specified | ENROLLING_BY_INVITATION | Influence of General Anesthesia on the Dynamic Changes in Brain Damage Markers During and After Craniosynostosis Operations in Infancy |
| NCT06928727 | Not specified | RECRUITING | Ocular Characteristics in Patients With Craniosynostosis |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): craniosynostosis