NETO2
gene geneOn this page
Also known as FLJ10430NEOT2
Summary
NETO2 (neuropilin and tolloid like 2, HGNC:14644) is a protein-coding gene on chromosome 16q12.1, encoding Neuropilin and tolloid-like protein 2 (Q8NC67). Accessory subunit of neuronal kainate-sensitive glutamate receptors, GRIK2 and GRIK3.
This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 81831 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 82 total
- MANE Select transcript:
NM_018092
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14644 |
| Approved symbol | NETO2 |
| Name | neuropilin and tolloid like 2 |
| Location | 16q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10430, NEOT2 |
| Ensembl gene | ENSG00000171208 |
| Ensembl biotype | protein_coding |
| OMIM | 607974 |
| Entrez | 81831 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 12 protein_coding
ENST00000303155, ENST00000562435, ENST00000562559, ENST00000563078, ENST00000564667, ENST00000878302, ENST00000878303, ENST00000878304, ENST00000935728, ENST00000935729, ENST00000935730, ENST00000962554
RefSeq mRNA: 2 — MANE Select: NM_018092
NM_001201477, NM_018092
CCDS: CCDS10727, CCDS58460
Canonical transcript exons
ENST00000562435 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001131266 | 47122657 | 47122784 |
| ENSE00001131270 | 47128325 | 47128573 |
| ENSE00001131278 | 47129224 | 47129364 |
| ENSE00001165245 | 47109483 | 47109711 |
| ENSE00001245750 | 47122868 | 47122912 |
| ENSE00001319075 | 47131969 | 47132025 |
| ENSE00001388767 | 47143579 | 47143945 |
| ENSE00001696301 | 47086226 | 47086339 |
| ENSE00002628768 | 47077703 | 47083801 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 97.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0825 / max 255.9362, expressed in 1693 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157233 | 7.3756 | 1460 |
| 157234 | 6.5569 | 1582 |
| 157235 | 1.1500 | 792 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.72 | gold quality |
| cortical plate | UBERON:0005343 | 96.87 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.61 | gold quality |
| oocyte | CL:0000023 | 94.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.60 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 92.59 | gold quality |
| retina | UBERON:0000966 | 92.57 | gold quality |
| embryo | UBERON:0000922 | 91.34 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.93 | gold quality |
| ventricular zone | UBERON:0003053 | 89.17 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 88.95 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.36 | gold quality |
| nucleus accumbens | UBERON:0001882 | 86.19 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 85.96 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.69 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.58 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 85.28 | gold quality |
| caudate nucleus | UBERON:0001873 | 85.14 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.89 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 84.55 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.55 | gold quality |
| putamen | UBERON:0001874 | 84.32 | gold quality |
| frontal cortex | UBERON:0001870 | 83.39 | gold quality |
| frontal lobe | UBERON:0016525 | 83.39 | gold quality |
| monocyte | CL:0000576 | 83.31 | gold quality |
| visceral pleura | UBERON:0002401 | 83.08 | gold quality |
| neocortex | UBERON:0001950 | 83.07 | gold quality |
| mononuclear cell | CL:0000842 | 83.00 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.81 | gold quality |
| spleen | UBERON:0002106 | 82.50 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.79 |
| E-CURD-112 | no | 2.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NME1
miRNA regulators (miRDB)
113 targeting NETO2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
Literature-anchored findings (GeneRIF, showing 13)
- Determination of the neuropilin and tolloid-like protein 2 signal peptide cleavage site by N-terminal sequencing. (PMID:15340161)
- Rat neto2 plays a role in glutamate signaling in the brain by modulating the function of kainate receptors. (PMID:19217376)
- Results suggested that the extracellular N-terminal region including the two CUB domains was largely responsible for the distinct regulatory effects of Neto1 and Neto2 on the desensitization properties of GluK1 homomeric receptors (PMID:26277340)
- NETO2 upregulation could serve as a potential biomarker for the prediction of advanced tumor progression and unfavorable prognosis in patients with colorectal carcinoma. (PMID:26699544)
- NETO2 may be involved in colorectal cancer progression, but is not directly associated with epithelial-mesenchymal transition (PMID:29297384)
- upregulation of NETO2 gene is first stipulated by the isoform 1 (NM_018092.4), and the probable mechanism of its activation is associated with the increased expression of SAP30 transcription factor. (PMID:29989576)
- NETO2 promotes invasion and metastasis of gastric cancer cells and represents a novel prognostic indicator as well as a potential therapeutic target in gastric cancer. (PMID:30770791)
- NETO2 expression is up-regulated in Nasopharyngeal carcinoma (NPC) clinical specimens and cell lines. NETO2 down-regulation reduces proliferation, migration and invasion in irradiated NPC cell lines. (PMID:30975469)
- Neuropilin and tolloid-like 2 regulates the progression of osteosarcoma. (PMID:33157203)
- NETO2 promotes esophageal cancer progression by inducing proliferation and metastasis via PI3K/AKT and ERK pathway. (PMID:33390848)
- Kainate receptor modulation by NETO2. (PMID:34552241)
- Glioma-derived LRIG3 interacts with NETO2 in tumor-associated macrophages to modulate microenvironment and suppress tumor growth. (PMID:36639372)
- NETO2 promotes melanoma progression via activation of the Ca[2+]/CaMKII signaling pathway. (PMID:36738427)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | neto2b | ENSDARG00000063293 |
| danio_rerio | NETO2 | ENSDARG00000112100 |
| mus_musculus | Neto2 | ENSMUSG00000036902 |
| rattus_norvegicus | Neto2 | ENSRNOG00000016245 |
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), PCOLCE2 (ENSG00000163710), EDIL3 (ENSG00000164176), NETO1 (ENSG00000166342), BMP1 (ENSG00000168487), PDGFD (ENSG00000170962), CNTNAP2 (ENSG00000174469), NRXN1 (ENSG00000179915), HEPHL1 (ENSG00000181333), F8 (ENSG00000185010), ASTL (ENSG00000188886), F5 (ENSG00000198734), MFRP (ENSG00000235718), CNTNAP3C (ENSG00000283378)
Protein
Protein identifiers
Neuropilin and tolloid-like protein 2 — Q8NC67 (reviewed: Q8NC67)
Alternative names: Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 2
All UniProt accessions (4): H3BM37, H3BSR0, H3BTE1, Q8NC67
UniProt curated annotations — full annotation on UniProt →
Function. Accessory subunit of neuronal kainate-sensitive glutamate receptors, GRIK2 and GRIK3. Increases kainate-receptor channel activity, slowing the decay kinetics of the receptors, without affecting their expression at the cell surface, and increasing the open probability of the receptor channels. Modulates the agonist sensitivity of kainate receptors. Slows the decay of kainate receptor-mediated excitatory postsynaptic currents (EPSCs), thus directly influencing synaptic transmission.
Subunit / interactions. Interacts with GRIK2 and GRIK3, but neither with AMPA-nor with NMDA-sensitive glutamate receptors.
Subcellular location. Membrane.
Post-translational modifications. N-glycosylated.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NC67-1 | 1 | yes |
| Q8NC67-2 | 2 | |
| Q8NC67-3 | 3 |
RefSeq proteins (2): NP_001188406, NP_060562* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000859 | CUB_dom | Domain |
| IPR002172 | LDrepeatLR_classA_rpt | Repeat |
| IPR023415 | LDLR_class-A_CS | Conserved_site |
| IPR035914 | Sperma_CUB_dom_sf | Homologous_superfamily |
| IPR036055 | LDL_receptor-like_sf | Homologous_superfamily |
Pfam: PF00057, PF00431
UniProt features (26 total): disulfide bond 7, sequence conflict 5, splice variant 3, domain 3, topological domain 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1, modified residue 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NC67-F1 | 72.14 | 0.45 |
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): 409
Disulfide bonds (7): 45–72, 100–122, 177–207, 234–256, 297–309, 304–322, 316–331
Glycosylation sites (1): 311
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 211 (showing top):
ELVIDGE_HYPOXIA_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, TGCACTT_MIR519C_MIR519B_MIR519A, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, LEE_LIVER_CANCER_CIPROFIBRATE_DN, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, WEI_MYCN_TARGETS_WITH_E_BOX, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, CADWELL_ATG16L1_TARGETS_DN, ONKEN_UVEAL_MELANOMA_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, BILD_E2F3_ONCOGENIC_SIGNATURE, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, LIAO_METASTASIS
GO Biological Process (2): regulation of neurotransmitter receptor localization to postsynaptic specialization membrane (GO:0098696), neurotransmitter receptor localization to postsynaptic specialization membrane (GO:0099645)
GO Molecular Function (2): ionotropic glutamate receptor binding (GO:0035255), protein binding (GO:0005515)
GO Cellular Component (5): postsynaptic density (GO:0014069), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), membrane (GO:0016020), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of biological quality | 1 |
| neurotransmitter receptor localization to postsynaptic specialization membrane | 1 |
| regulation of protein localization to synapse | 1 |
| regulation of receptor localization to synapse | 1 |
| regulation of protein localization to cell periphery | 1 |
| regulation of protein localization to membrane | 1 |
| protein-containing complex localization | 1 |
| receptor localization to synapse | 1 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 1 |
| protein localization to postsynaptic specialization membrane | 1 |
| glutamate receptor binding | 1 |
| binding | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| synapse | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
612 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NETO2 | GRIK2 | Q13002 | 869 |
| NETO2 | KARS1 | Q15046 | 811 |
| NETO2 | SLC12A5 | Q9H2X9 | 808 |
| NETO2 | GRIK1 | P39086 | 642 |
| NETO2 | GRIK4 | Q16099 | 577 |
| NETO2 | GRIK5 | Q16478 | 570 |
| NETO2 | C1R | P00736 | 570 |
| NETO2 | C1S | P09871 | 540 |
| NETO2 | EPB41L1 | Q9H4G0 | 536 |
| NETO2 | ARHGEF7 | Q14155 | 529 |
| NETO2 | CACNG2 | Q9Y698 | 507 |
| NETO2 | CNIH2 | Q6PI25 | 507 |
| NETO2 | CNIH4 | Q9P003 | 505 |
| NETO2 | CNIH1 | O95406 | 490 |
| NETO2 | GPHN | Q9NQX3 | 471 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HLA-DRA | HLA-DRB1 | psi-mi:“MI:0914”(association) | 0.880 |
| HLA-C | HLA-A | psi-mi:“MI:0914”(association) | 0.670 |
| SLC39A5 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| TMEM30B | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRF4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM33 | LRP5 | psi-mi:“MI:0914”(association) | 0.530 |
| IL9R | RETSAT | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| TMED6 | SMPD2 | psi-mi:“MI:0914”(association) | 0.530 |
| NETO2 | TIA1 | psi-mi:“MI:0914”(association) | 0.350 |
| HTR3C | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL8 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMED6 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| ASIC4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTCH1 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| HTR3A | GPAA1 | psi-mi:“MI:0914”(association) | 0.350 |
| PON2 | ENTPD6 | psi-mi:“MI:0914”(association) | 0.350 |
| NS3 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| SURF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| LDLRAD1 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC12B | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (105): NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), NETO2 (Proximity Label-MS), KRT17 (Affinity Capture-MS), TIA1 (Affinity Capture-MS), AIMP2 (Affinity Capture-MS)
ESM2 similar proteins: A1XQX1, A1XQX3, A1XQY0, A8WGA3, C6K2K4, D0PRN2, D0PRN4, D4A1J9, E9PUN2, O13097, O42596, O73612, O73874, P0DI97, P52795, P52796, P58400, P58401, P98172, Q01974, Q0PMD2, Q17QD6, Q28142, Q28143, Q460M5, Q63373, Q63376, Q6NW40, Q6PCX7, Q6PFE7, Q7TQ33, Q80TG9, Q8BNJ6, Q8BXA0, Q8C985, Q8IYR6, Q8NC67, Q91590, Q96B86, Q96NI6
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NME1 | “down-regulates quantity by repression” | NETO2 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1805 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:47083797:CTTTT:C | acceptor_gain | 1.0000 |
| 16:47083802:C:CC | acceptor_gain | 1.0000 |
| 16:47109481:A:AC | donor_gain | 1.0000 |
| 16:47109481:ACGCT:A | donor_gain | 1.0000 |
| 16:47109482:C:CC | donor_gain | 1.0000 |
| 16:47109482:CG:C | donor_gain | 1.0000 |
| 16:47109482:CGCT:C | donor_gain | 1.0000 |
| 16:47109482:CGCTC:C | donor_gain | 1.0000 |
| 16:47122661:G:C | donor_gain | 1.0000 |
| 16:47128571:CAG:C | acceptor_gain | 1.0000 |
| 16:47128574:C:CC | acceptor_gain | 1.0000 |
| 16:47129219:AATAC:A | donor_loss | 1.0000 |
| 16:47129220:ATACC:A | donor_loss | 1.0000 |
| 16:47129221:TACC:T | donor_loss | 1.0000 |
| 16:47129222:A:T | donor_loss | 1.0000 |
| 16:47129226:T:A | donor_gain | 1.0000 |
| 16:47129244:T:A | donor_gain | 1.0000 |
| 16:47129361:CCAT:C | acceptor_gain | 1.0000 |
| 16:47129362:CAT:C | acceptor_gain | 1.0000 |
| 16:47129362:CATC:C | acceptor_gain | 1.0000 |
| 16:47129365:C:CC | acceptor_gain | 1.0000 |
| 16:47129366:T:C | acceptor_gain | 1.0000 |
| 16:47129366:T:TC | acceptor_gain | 1.0000 |
| 16:47132021:CAACA:C | acceptor_gain | 1.0000 |
| 16:47132024:CA:C | acceptor_gain | 1.0000 |
| 16:47132026:C:CC | acceptor_gain | 1.0000 |
| 16:47143573:CCTTA:C | donor_loss | 1.0000 |
| 16:47143574:CTTA:C | donor_loss | 1.0000 |
| 16:47143575:TTAC:T | donor_loss | 1.0000 |
| 16:47143576:TAC:T | donor_loss | 1.0000 |
AlphaMissense
3486 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:47109644:A:T | V241D | 1.000 |
| 16:47109650:A:T | V239D | 1.000 |
| 16:47128483:C:G | R108P | 1.000 |
| 16:47128507:C:G | C100S | 1.000 |
| 16:47128508:A:G | C100R | 1.000 |
| 16:47128508:A:T | C100S | 1.000 |
| 16:47086297:C:G | C309S | 0.999 |
| 16:47086298:A:T | C309S | 0.999 |
| 16:47109541:C:A | W275C | 0.999 |
| 16:47109541:C:G | W275C | 0.999 |
| 16:47109548:C:G | R273P | 0.999 |
| 16:47109598:G:C | C256W | 0.999 |
| 16:47109599:C:G | C256S | 0.999 |
| 16:47109599:C:T | C256Y | 0.999 |
| 16:47109600:A:G | C256R | 0.999 |
| 16:47109600:A:T | C256S | 0.999 |
| 16:47109648:C:G | A240P | 0.999 |
| 16:47109665:C:G | C234S | 0.999 |
| 16:47109666:A:G | C234R | 0.999 |
| 16:47109666:A:T | C234S | 0.999 |
| 16:47109698:A:G | F223S | 0.999 |
| 16:47122684:C:A | W209C | 0.999 |
| 16:47122684:C:G | W209C | 0.999 |
| 16:47122686:A:G | W209R | 0.999 |
| 16:47122686:A:T | W209R | 0.999 |
| 16:47122690:G:C | C207W | 0.999 |
| 16:47122691:C:G | C207S | 0.999 |
| 16:47122692:A:G | C207R | 0.999 |
| 16:47122692:A:T | C207S | 0.999 |
| 16:47128340:A:C | Y156D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000016477 (16:47140828 G>C), RS1000028197 (16:47133719 A>G), RS1000051598 (16:47103866 GA>G,GAA), RS1000127005 (16:47111164 A>G,T), RS1000129428 (16:47141472 A>C), RS1000158179 (16:47089376 C>A), RS1000212095 (16:47097083 TA>T), RS1000241335 (16:47113674 C>T), RS1000332820 (16:47120093 A>T), RS1000440309 (16:47090516 G>A), RS1000469949 (16:47120608 T>C), RS1000553837 (16:47108618 T>A), RS1000700888 (16:47121267 T>C), RS1000781737 (16:47114977 A>G), RS1000806639 (16:47121822 T>C)
Disease associations
OMIM: gene MIM:607974 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 6 |
| bisphenol A | increases expression, affects cotreatment, decreases expression | 3 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| belinostat | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| ochratoxin A | increases acetylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cocaine | increases expression | 1 |
| Coumestrol | increases expression | 1 |
| Cyclophosphamide | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_F1M7 | HyCyte A-549 KO-hNETO2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.