NPTX2
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Summary
NPTX2 (neuronal pentraxin 2, HGNC:7953) is a protein-coding gene on chromosome 7q22.1, encoding Neuronal pentraxin-2 (P47972). Likely to play role in the modification of cellular properties that underlie long-term plasticity.
This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD.
Source: NCBI Gene 4885 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 84 total
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_002523
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7953 |
| Approved symbol | NPTX2 |
| Name | neuronal pentraxin 2 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000106236 |
| Ensembl biotype | protein_coding |
| OMIM | 600750 |
| Entrez | 4885 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000265634, ENST00000466102, ENST00000903470
RefSeq mRNA: 1 — MANE Select: NM_002523
NM_002523
CCDS: CCDS5657
Canonical transcript exons
ENST00000265634 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000707342 | 98627165 | 98627344 |
| ENSE00000877526 | 98619643 | 98619859 |
| ENSE00000977232 | 98617285 | 98617887 |
| ENSE00001040393 | 98628402 | 98629869 |
| ENSE00003504643 | 98624922 | 98625166 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 97.86.
FANTOM5 (CAGE): breadth broad, TPM avg 6.5131 / max 465.4134, expressed in 698 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79831 | 6.5131 | 698 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 97.86 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.86 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.68 | gold quality |
| pituitary gland | UBERON:0000007 | 97.09 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 94.27 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 93.70 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.67 | gold quality |
| postcentral gyrus | UBERON:0002581 | 91.34 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.99 | gold quality |
| right testis | UBERON:0004534 | 90.48 | gold quality |
| parietal lobe | UBERON:0001872 | 89.66 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 89.46 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.34 | gold quality |
| left testis | UBERON:0004533 | 89.31 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.30 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 89.08 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.95 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.94 | gold quality |
| thoracic aorta | UBERON:0001515 | 88.85 | gold quality |
| ascending aorta | UBERON:0001496 | 88.76 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.74 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.68 | gold quality |
| frontal cortex | UBERON:0001870 | 88.61 | gold quality |
| testis | UBERON:0000473 | 88.44 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.44 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.26 | gold quality |
| adrenal cortex | UBERON:0001235 | 88.06 | gold quality |
| frontal pole | UBERON:0002795 | 87.91 | gold quality |
| cerebral cortex | UBERON:0000956 | 87.43 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 87.41 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 958.97 |
| E-GEOD-81547 | yes | 829.70 |
| E-GEOD-81608 | yes | 408.08 |
| E-GEOD-83139 | yes | 369.88 |
| E-ENAD-27 | yes | 298.03 |
| E-GEOD-134144 | yes | 31.09 |
| E-HCAD-31 | yes | 26.42 |
| E-GEOD-135922 | yes | 21.18 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
65 targeting NPTX2, 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-3163 | 100.00 | 77.23 | 8605 |
| 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 34)
- The purpose of the present study was to assess the toxic effect of taipoxin in SCLC-cell lines and to determine if toxicity correlates to NPR and NP1 and NP2 expression levels. (PMID:16115696)
- study tested for the association of four SNPs of NPTX2 & haplotypes consisting of the SNPs with autism, between autistic patients & controls in a Japanese population; no significant difference was observed in allele, genotype or haplotype frequencies (PMID:17408830)
- pancreatic cancer cytology samples had statistically significant higher levels of NPTX2 methylation compared with benign diseases (PMID:17895837)
- Neuronal pentraxin II is highly upregulated in Parkinson’s disease and a novel component of Lewy bodies. (PMID:17987278)
- Homoplasmic cybrids harboring the 8993T–>G NARP mutation were also protected from death (75% vs 15% survival at 72 hours) by the supplemented medium and their ATP content was similar to controls (PMID:19667215)
- NPTX2, as a tumor-suppressor, plays an anti-tumor effect on pancreatic cancer and its low expression, due to promoter hypermethylation, may play a role in the tumorigenesis of pancreatic cancer. (PMID:21161403)
- Data indicate that the aberrantly methylated NPTX2 gene may help to distinguish between chronic pancreatitis and pancreatic cancer with conventional diagnostic tools and could become a valuable diagnostic marker. (PMID:21778928)
- Demonstrate for the first time that NARP mutation significantly enhances apoptotic death as a result of three distinct lethal mitochondrial apoptotic insults including oxidative, Ca(2+), and lipid stress. (PMID:21812817)
- This study demonistrated that childhood-onset mood disorders and suicide attempt association between HOMER1 rs2290639 and between NPTX2 markers rs705315 and rs1681248. (PMID:22460132)
- This study showed that the NPTX2 protein is down-regulated in human primary pancreatic cancers and in pancreatic cancer cell lines. (PMID:22806544)
- Detection of aberrant methylation of NPTX2 in pure pancreatic juice samples could be useful as a molecular marker to discriminate between patients with malignant and benign disease of the pancreas (PMID:23360791)
- Promoter methylation of NPTX2 is associated with glioblastoma. (PMID:23624749)
- The visual cortex of NARP-deficient transgenic mice is hyperexcitable and unable to express ocular dominance, although many aspects of visual function are unimpaired. (PMID:23889936)
- NPTX2 repressed NF-kappaB activity by inhibiting AKT through a p53-PTEN-dependent pathway, thus explaining the hypermethylation and downregulation of NPTX2 in NF-kappaB-activated high-risk glioblastomas. (PMID:24078801)
- NPTX2 is overexpressed specifically in ccRCC primary tumors. (PMID:24962026)
- we show that NPTX2 is a marker of poor prognosis for neuroblastoma patients. (PMID:26294210)
- Decreased NPTX2 expression in rectal adenocarcinomas is associated with improved response to neoadjuvant chemoradiation and improved prognosis. (PMID:27083956)
- Neuronal pentraxin 2 predicts medial temporal atrophy and memory decline across the Alzheimer’s disease spectrum. This research may advance the current understanding of Alzheimer’s disease etiopathogenesis, while expanding early diagnostic techniques through the use of novel pro-inflammatory biomarkers, such as NPTX2. (PMID:27444967)
- PTX2 was identified PTX2 as a novel partner for FX, and both proteins cooperated to prevent their SR-AI-mediated uptake by macrophages. (PMID:28213380)
- NPTX2 in human cerebrospinal fluid is reduced in subjects with Alzheimer’s disease and shows robust correlations with cognitive performance and hippocampal volume. (PMID:28440221)
- MicroRNA-96 is a potential tumor repressor by inhibiting NPTX2 in renal cell carcinoma. (PMID:31498486)
- Frontal cortex chitinase and pentraxin neuroinflammatory alterations during the progression of Alzheimer’s disease. (PMID:32066474)
- Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia. (PMID:32273328)
- Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer’s disease-related inhibitory circuit dysfunction in adults with Down syndrome. (PMID:32807227)
- Neuronal pentraxin II (NPTX2) hypermethylation promotes cell proliferation but inhibits cell cycle arrest and apoptosis in gastric cancer cells by suppressing the p53 signaling pathway. (PMID:33896384)
- Do pentraxin 3 and neural pentraxin 2 have different facet function in hepatocellular carcinoma? (PMID:33905035)
- Diagnostic value of neuronal pentraxin II methylation in patients with pancreatic cancer: Meta-analysis. (PMID:34105851)
- Silencing circular RNA circ_0054537 and upregulating microRNA-640 suppress malignant progression of renal cell carcinoma via regulating neuronal pentraxin-2 (NPTX2). (PMID:34565284)
- Neuronal pentraxin-2 (NPTX2) serum levels during an acute psychotic episode in patients with schizophrenia. (PMID:35482070)
- A Combination of Neurofilament Light, Glial Fibrillary Acidic Protein, and Neuronal Pentraxin-2 Discriminates Between Frontotemporal Dementia and Other Dementias. (PMID:36120776)
- NPTX2 Promotes Epithelial-Mesenchymal Transition in Cutaneous Squamous Cell Carcinoma through METTL3-Mediated N6-Methyladenosine Methylation of SNAIL. (PMID:36638907)
- NPTX2 in Cerebrospinal Fluid Predicts the Progression From Normal Cognition to Mild Cognitive Impairment. (PMID:37345460)
- Assessments of the Utilities of CSF NPTX2 for Disease Progression in Cognitively Normal Individuals Who Progress to Clinical MCI and AD. (PMID:37614206)
- A model of human neural networks reveals NPTX2 pathology in ALS and FTLD. (PMID:38355792)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nptx2a | ENSDARG00000037794 |
| danio_rerio | nptx2b | ENSDARG00000045164 |
| mus_musculus | Nptx2 | ENSMUSG00000059991 |
| rattus_norvegicus | Nptx2 | ENSRNOG00000001006 |
Paralogs (5): CRP (ENSG00000132693), APCS (ENSG00000132703), PTX3 (ENSG00000163661), NPTX1 (ENSG00000171246), PTX4 (ENSG00000251692)
Protein
Protein identifiers
Neuronal pentraxin-2 — P47972 (reviewed: P47972)
Alternative names: Neuronal pentraxin II
All UniProt accessions (1): P47972
UniProt curated annotations — full annotation on UniProt →
Function. Likely to play role in the modification of cellular properties that underlie long-term plasticity. Binds to agar matrix in a calcium-dependent manner.
Subunit / interactions. Homooligomer or heterooligomer (probably pentamer) with neuronal pentraxin receptor (NPTXR).
Subcellular location. Secreted.
Tissue specificity. Brain, pancreas, liver, heart and skeletal muscle. Highest levels are seen in the testis.
Cofactor. Binds 2 calcium ions per subunit.
RefSeq proteins (1): NP_002514* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001759 | PTX_dom | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR030476 | Pentaxin_CS | Conserved_site |
| IPR051360 | Neuronal_Pentraxin_Related | Family |
Pfam: PF00354
UniProt features (17 total): binding site 7, glycosylation site 3, sequence conflict 3, signal peptide 1, chain 1, disulfide bond 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P47972-F1 | 81.95 | 0.48 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (7): 277; 355; 355; 356; 357; 357; 367
Disulfide bonds (1): 253–313
Glycosylation sites (3): 148, 189, 393
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 139 (showing top):
FXR_IR1_Q6, GOBP_COGNITION, GOBP_BEHAVIOR, BROWNE_HCMV_INFECTION_8HR_UP, GOBP_ASSOCIATIVE_LEARNING, TATTATA_MIR374, BROWNE_HCMV_INFECTION_16HR_UP, TGACCTY_ERR1_Q2, CERVERA_SDHB_TARGETS_1_DN, BROWNE_HCMV_INFECTION_12HR_UP, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, GOBP_CELL_CELL_SIGNALING, KRASNOSELSKAYA_ILF3_TARGETS_DN, YOKOE_CANCER_TESTIS_ANTIGENS, OCT1_03
GO Biological Process (2): chemical synaptic transmission (GO:0007268), associative learning (GO:0008306)
GO Molecular Function (3): carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (4): extracellular region (GO:0005576), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular anatomical structure | 2 |
| synapse | 2 |
| anterograde trans-synaptic signaling | 1 |
| learning | 1 |
| cation binding | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1132 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NPTX2 | AVP | P01185 | 833 |
| NPTX2 | NLGN1 | Q8N2Q7 | 788 |
| NPTX2 | GRIA4 | P48058 | 781 |
| NPTX2 | RCN2 | Q14257 | 753 |
| NPTX2 | NPTXR | O95502 | 691 |
| NPTX2 | OCA2 | Q04671 | 669 |
| NPTX2 | HOMER1 | Q86YM7 | 664 |
| NPTX2 | GRIA1 | P42261 | 656 |
| NPTX2 | PDYN | P01213 | 638 |
| NPTX2 | PMCH | P20382 | 606 |
| NPTX2 | OXT | P01178 | 576 |
| NPTX2 | HCRTR1 | O43613 | 556 |
| NPTX2 | HCRT | O43612 | 543 |
| NPTX2 | NPAS4 | Q8IUM7 | 524 |
| NPTX2 | PICK1 | Q9NRD5 | 512 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NPTX2 | FZD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NPTX2 | FZD6 | psi-mi:“MI:0403”(colocalization) | 0.560 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| CYB5D2 | ABLIM1 | psi-mi:“MI:0914”(association) | 0.530 |
| BATF3 | TARSL2 | psi-mi:“MI:0914”(association) | 0.350 |
| CYB5D2 | CBX6 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| OS9 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| BATF3 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
| NPTX2 | NPTXR | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC4F | ITGAV | psi-mi:“MI:0914”(association) | 0.350 |
| IGFL1 | COL6A1 | psi-mi:“MI:0914”(association) | 0.350 |
| NPTX1 | NPTXR | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (25): NPTX2 (Affinity Capture-MS), NPTX2 (Affinity Capture-MS), NPTX2 (Affinity Capture-MS), RGPD5 (Affinity Capture-MS), NDE1 (Affinity Capture-MS), NPTX2 (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), NDEL1 (Affinity Capture-MS), Nptxr (Co-fractionation), Nptx1 (Co-fractionation), NPTXR (Affinity Capture-MS), NPTX2 (Affinity Capture-MS), NPTX2 (Affinity Capture-MS), MAPK3 (Affinity Capture-MS), NPTX2 (Affinity Capture-MS)
ESM2 similar proteins: A2AV25, A5PJQ2, A5PMY6, A6H6E2, B7ZNG0, O00548, O35764, O43278, O70340, O95502, P21757, P21758, P30204, P47970, P47971, P47972, P48759, P58660, P59900, P97738, Q05585, Q15818, Q24K15, Q2M1P5, Q5RFW0, Q61483, Q62443, Q6AZY7, Q6MG84, Q6ZMJ2, Q86VZ4, Q8BJS4, Q8C850, Q8CB67, Q8K299, Q8N539, Q8NI99, Q8R0Z6, Q95LU3, Q96NZ8
Diamond homologs: A0A1D5NSM8, A0JNA2, A2AVA0, A2AX52, D3YXF5, O02839, O19063, O35764, O43405, O70340, O76536, O89029, O95502, O96530, P02741, P02743, P06205, P06206, P06207, P06681, P07202, P07629, P08607, P09871, P0C6B8, P10643, P12246, P13944, P14151, P14847, P15697, P18337, P23680, P32018, P47970, P47971, P47972, P48199, P49254, P49262
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1253 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:98619630:C:A | acceptor_gain | 1.0000 |
| 7:98619631:G:A | acceptor_gain | 1.0000 |
| 7:98625164:AAGGT:A | donor_loss | 1.0000 |
| 7:98625167:G:GG | donor_gain | 1.0000 |
| 7:98627163:A:AC | acceptor_loss | 1.0000 |
| 7:98627341:GCAG:G | donor_gain | 1.0000 |
| 7:98627343:AGG:A | donor_loss | 1.0000 |
| 7:98627344:GG:G | donor_loss | 1.0000 |
| 7:98627345:G:A | donor_loss | 1.0000 |
| 7:98627346:T:A | donor_loss | 1.0000 |
| 7:98628393:A:AG | acceptor_gain | 1.0000 |
| 7:98628394:T:G | acceptor_gain | 1.0000 |
| 7:98628397:CCCA:C | acceptor_loss | 1.0000 |
| 7:98628398:CCA:C | acceptor_loss | 1.0000 |
| 7:98628399:CAG:C | acceptor_loss | 1.0000 |
| 7:98628400:A:AG | acceptor_gain | 1.0000 |
| 7:98628401:G:GG | acceptor_gain | 1.0000 |
| 7:98617884:CGAGG:C | donor_loss | 0.9900 |
| 7:98617885:GAGG:G | donor_loss | 0.9900 |
| 7:98617886:AGG:A | donor_loss | 0.9900 |
| 7:98617887:GGT:G | donor_loss | 0.9900 |
| 7:98617888:GTAGC:G | donor_loss | 0.9900 |
| 7:98617889:T:G | donor_loss | 0.9900 |
| 7:98619611:T:TA | acceptor_gain | 0.9900 |
| 7:98619613:T:TA | acceptor_gain | 0.9900 |
| 7:98619633:T:TA | acceptor_gain | 0.9900 |
| 7:98619634:G:A | acceptor_gain | 0.9900 |
| 7:98619637:T:TA | acceptor_gain | 0.9900 |
| 7:98624918:CCAG:C | acceptor_loss | 0.9900 |
| 7:98624920:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
2788 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:98625150:T:C | L291P | 1.000 |
| 7:98627215:T:G | C313W | 1.000 |
| 7:98627222:T:A | W316R | 1.000 |
| 7:98627222:T:C | W316R | 1.000 |
| 7:98627334:G:A | G353E | 1.000 |
| 7:98628470:G:C | W379C | 1.000 |
| 7:98628470:G:T | W379C | 1.000 |
| 7:98617721:T:C | L87P | 0.999 |
| 7:98625035:T:C | C253R | 0.999 |
| 7:98625037:C:G | C253W | 0.999 |
| 7:98625083:T:C | S269P | 0.999 |
| 7:98625084:C:T | S269F | 0.999 |
| 7:98625109:C:A | N277K | 0.999 |
| 7:98625109:C:G | N277K | 0.999 |
| 7:98625120:T:C | L281P | 0.999 |
| 7:98625153:T:C | L292P | 0.999 |
| 7:98627213:T:C | C313R | 0.999 |
| 7:98627214:G:A | C313Y | 0.999 |
| 7:98627224:G:C | W316C | 0.999 |
| 7:98627224:G:T | W316C | 0.999 |
| 7:98627238:G:A | G321D | 0.999 |
| 7:98627238:G:T | G321V | 0.999 |
| 7:98627243:T:A | W323R | 0.999 |
| 7:98627243:T:C | W323R | 0.999 |
| 7:98627333:G:A | G353R | 0.999 |
| 7:98627333:G:C | G353R | 0.999 |
| 7:98627337:A:C | Q354P | 0.999 |
| 7:98627338:A:C | Q354H | 0.999 |
| 7:98627338:A:T | Q354H | 0.999 |
| 7:98627340:A:T | E355V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000018280 (7:98628909 G>A), RS1000180672 (7:98624249 A>G), RS1000347891 (7:98617735 G>A), RS1000474776 (7:98629084 T>A,C), RS1000694831 (7:98617298 G>T), RS1000955854 (7:98624771 T>C,G), RS1001067905 (7:98627945 G>A), RS1001076948 (7:98622536 C>T), RS1001373061 (7:98627715 C>T), RS1001487509 (7:98617884 C>G,T), RS1001949394 (7:98622946 A>C), RS1001982028 (7:98623203 G>A,C), RS1002506648 (7:98626243 A>C), RS1002567563 (7:98617275 C>A,T), RS1003080658 (7:98619161 A>G)
Disease associations
OMIM: gene MIM:600750 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 10 |
| methylmercuric chloride | increases expression, affects cotreatment | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | increases expression, increases methylation | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Vorinostat | increases expression, affects cotreatment | 2 |
| Estradiol | increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Progesterone | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| terbufos | increases methylation | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects response to substance | 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 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| Gefitinib | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Fonofos | increases methylation | 1 |
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.