NETO1
gene geneOn this page
Also known as BTCL1BCTL1
Summary
NETO1 (neuropilin and tolloid like 1, HGNC:13823) is a protein-coding gene on chromosome 18q22.3, encoding Neuropilin and tolloid-like protein 1 (Q8TDF5). Involved in the development and/or maintenance of neuronal circuitry.
This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 81832 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 59 total — 1 pathogenic
- MANE Select transcript:
NM_138966
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13823 |
| Approved symbol | NETO1 |
| Name | neuropilin and tolloid like 1 |
| Location | 18q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BTCL1, BCTL1 |
| Ensembl gene | ENSG00000166342 |
| Ensembl biotype | protein_coding |
| OMIM | 607973 |
| Entrez | 81832 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000327305, ENST00000397929, ENST00000577184, ENST00000579169, ENST00000579730, ENST00000582281, ENST00000583169, ENST00000876951, ENST00000916239, ENST00000916240, ENST00000916241
RefSeq mRNA: 8 — MANE Select: NM_138966
NM_001201465, NM_001354017, NM_001354018, NM_001354020, NM_001354021, NM_001354022, NM_138966, NM_138999
CCDS: CCDS12000, CCDS42444
Canonical transcript exons
ENST00000327305 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001179943 | 72794363 | 72794404 |
| ENSE00001179973 | 72867264 | 72867987 |
| ENSE00001305635 | 72750062 | 72750620 |
| ENSE00001305895 | 72783678 | 72783906 |
| ENSE00001326249 | 72794117 | 72794244 |
| ENSE00001327400 | 72749014 | 72749088 |
| ENSE00001634081 | 72756034 | 72756147 |
| ENSE00002722002 | 72743756 | 72748164 |
| ENSE00003617319 | 72858826 | 72859074 |
| ENSE00003630223 | 72865188 | 72865241 |
| ENSE00003669678 | 72864808 | 72864945 |
Expression profiles
Bgee: expression breadth ubiquitous, 151 present calls, max score 88.98.
FANTOM5 (CAGE): breadth broad, TPM avg 3.8885 / max 139.1868, expressed in 369 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172407 | 3.1389 | 357 |
| 172408 | 0.3992 | 117 |
| 172409 | 0.2294 | 92 |
| 172405 | 0.0589 | 41 |
| 172406 | 0.0443 | 29 |
| 172404 | 0.0178 | 6 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prefrontal cortex | UBERON:0000451 | 88.98 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.00 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 85.21 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.12 | gold quality |
| frontal cortex | UBERON:0001870 | 83.41 | gold quality |
| neocortex | UBERON:0001950 | 82.90 | gold quality |
| caudate nucleus | UBERON:0001873 | 82.46 | gold quality |
| putamen | UBERON:0001874 | 82.21 | gold quality |
| nucleus accumbens | UBERON:0001882 | 82.21 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.73 | gold quality |
| cerebral cortex | UBERON:0000956 | 81.22 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.75 | gold quality |
| amygdala | UBERON:0001876 | 77.81 | gold quality |
| Ammon’s horn | UBERON:0001954 | 77.77 | gold quality |
| forebrain | UBERON:0001890 | 76.01 | gold quality |
| primary visual cortex | UBERON:0002436 | 74.92 | gold quality |
| buccal mucosa cell | CL:0002336 | 74.72 | gold quality |
| temporal lobe | UBERON:0001871 | 73.67 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 73.30 | gold quality |
| cortical plate | UBERON:0005343 | 73.12 | gold quality |
| brain | UBERON:0000955 | 71.36 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 71.31 | gold quality |
| occipital lobe | UBERON:0002021 | 71.16 | gold quality |
| hypothalamus | UBERON:0001898 | 70.48 | gold quality |
| postcentral gyrus | UBERON:0002581 | 70.09 | gold quality |
| parietal lobe | UBERON:0001872 | 69.37 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 69.20 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 69.10 | gold quality |
| entorhinal cortex | UBERON:0002728 | 67.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 67.35 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11121 | yes | 657.20 |
| E-GEOD-98556 | yes | 431.44 |
| E-GEOD-137537 | yes | 20.18 |
| E-ANND-3 | yes | 4.61 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA3
miRNA regulators (miRDB)
91 targeting NETO1, 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-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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
Literature-anchored findings (GeneRIF, showing 5)
- Mouse neto1 plays a critical role in spatial learning and memory through the regulation of NMDAR subunit abundance at synapses. (PMID:19243221)
- no evidence for the association of NETO1 with schizophrenia in the Japanese population (PMID:22205981)
- Neto1 is concluded to be a component of amyloid precursor protein /NMDA receptor trafficking complexes (PMID:23621516)
- 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)
- High neuropilin and tolloid-like 1 expression associated with metastasis and poor survival in epithelial ovarian cancer via regulation of actin cytoskeleton. (PMID:32638511)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | neto1 | ENSDARG00000068483 |
| danio_rerio | neto1l | ENSDARG00000071596 |
| mus_musculus | Neto1 | ENSMUSG00000050321 |
| rattus_norvegicus | Neto1 | ENSRNOG00000014006 |
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), 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
Neuropilin and tolloid-like protein 1 — Q8TDF5 (reviewed: Q8TDF5)
Alternative names: Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1
All UniProt accessions (2): Q8TDF5, J3QRF5
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the development and/or maintenance of neuronal circuitry. Accessory subunit of the neuronal N-methyl-D-aspartate receptor (NMDAR) critical for maintaining the abundance of GRIN2A-containing NMDARs in the postsynaptic density. Regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory.
Subunit / interactions. Interacts with PLZ domains of DLG2, DLG3 and DLG4 via its C-terminal TRV domain. Interacts with GRIN2A and GRIN2B via its CUB domains.
Subcellular location. Cell membrane. Postsynaptic density membrane Cell membrane Secreted.
Tissue specificity. Isoform 1 and isoform 2 are retina-specific. Isoform 3 is found in retina as well as at lower levels in adult and fetal brain.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TDF5-3 | 3 | yes |
| Q8TDF5-1 | 1, Soluble, sNETO1 | |
| Q8TDF5-2 | 2 |
RefSeq proteins (8): NP_001188394, NP_001340946, NP_001340947, NP_001340949, NP_001340950, NP_001340951, NP_620416, NP_620552 (=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 (25 total): disulfide bond 7, splice variant 3, domain 3, glycosylation site 2, topological domain 2, sequence variant 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, short sequence motif 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TDF5-F1 | 71.83 | 0.51 |
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): 417
Disulfide bonds (7): 41–68, 96–118, 172–202, 229–251, 292–304, 299–317, 311–326
Glycosylation sites (2): 306, 340
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 228 (showing top):
GOBP_MEMORY, GOBP_COGNITION, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_BEHAVIOR, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_NEURONAL_SYNAPTIC_PLASTICITY, GOBP_ASSOCIATIVE_LEARNING, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_CELL_CELL_SIGNALING, STARK_HYPPOCAMPUS_22Q11_DELETION_UP, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, GOBP_REGULATION_OF_POSTSYNAPTIC_MEMBRANE_POTENTIAL, GOBP_LEARNING, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, IRF1_Q6
GO Biological Process (7): memory (GO:0007613), visual learning (GO:0008542), regulation of long-term neuronal synaptic plasticity (GO:0048169), neurotransmitter receptor localization to postsynaptic specialization membrane (GO:0099645), anterograde axonal transport of neurotransmitter receptor complex (GO:0140231), positive regulation of excitatory postsynaptic potential (GO:2000463), receptor localization to synapse (GO:0097120)
GO Molecular Function (2): ionotropic glutamate receptor binding (GO:0035255), protein binding (GO:0005515)
GO Cellular Component (11): extracellular region (GO:0005576), postsynaptic density (GO:0014069), excitatory synapse (GO:0060076), Schaffer collateral - CA1 synapse (GO:0098685), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), axon cytoplasm (GO:1904115), plasma membrane (GO:0005886), membrane (GO:0016020), synapse (GO:0045202), postsynaptic membrane (GO:0045211)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synapse | 3 |
| receptor localization to synapse | 2 |
| cellular anatomical structure | 2 |
| learning or memory | 1 |
| visual behavior | 1 |
| associative learning | 1 |
| regulation of neuronal synaptic plasticity | 1 |
| protein-containing complex localization | 1 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 1 |
| protein localization to postsynaptic specialization membrane | 1 |
| neurotransmitter receptor transport | 1 |
| anterograde axonal protein transport | 1 |
| positive regulation of signal transduction | 1 |
| excitatory postsynaptic potential | 1 |
| modulation of excitatory postsynaptic potential | 1 |
| localization | 1 |
| glutamate receptor binding | 1 |
| binding | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| axon | 1 |
| neuron projection cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell junction | 1 |
| synaptic membrane | 1 |
| postsynapse | 1 |
Protein interactions and networks
STRING
1144 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NETO1 | GRIK2 | Q13002 | 872 |
| NETO1 | GRIK1 | P39086 | 773 |
| NETO1 | KARS1 | Q15046 | 724 |
| NETO1 | SPADH | A0A494C103 | 623 |
| NETO1 | GRIN2A | Q12879 | 621 |
| NETO1 | C1S | P09871 | 602 |
| NETO1 | SEMA3E | O15041 | 600 |
| NETO1 | GRIK4 | Q16099 | 593 |
| NETO1 | GRIK5 | Q16478 | 543 |
| NETO1 | NTNG1 | Q9Y2I2 | 526 |
| NETO1 | NTNG2 | Q96CW9 | 517 |
| NETO1 | CAPNS2 | Q96L46 | 515 |
| NETO1 | FBXO15 | Q8NCQ5 | 514 |
| NETO1 | GRIK3 | Q13003 | 507 |
| NETO1 | CACNG2 | Q9Y698 | 506 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHRNB2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| RSPH1 | NETO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (11): NETO1 (Affinity Capture-RNA), NETO1 (Affinity Capture-Western), NETO1 (Affinity Capture-Western), NETO1 (Affinity Capture-Western), NETO1 (Affinity Capture-Western), NETO1 (Affinity Capture-MS), NETO1 (Proximity Label-MS), NETO1 (Two-hybrid), NETO1 (Reconstituted Complex), NETO1 (Affinity Capture-RNA), NETO1 (Affinity Capture-Luminescence)
ESM2 similar proteins: A1XQX1, A2A690, D0PRN2, F1LTE0, O73612, P0DI97, P13590, P15209, P52795, P52796, P52799, P52800, P58400, P97401, P98172, Q01973, Q03351, Q0PMD2, Q13330, Q16288, Q16620, Q17QD6, Q28142, Q28143, Q5RF67, Q62599, Q63373, Q63604, Q6NW40, Q6PFE7, Q8C4U3, Q8C985, Q8IYR6, Q8K4B0, Q8N474, Q8R4I7, Q8TDF5, Q8VHW2, Q8VHW5, Q91044
Diamond homologs: A8Q2D1, C6K2K4, C6KFA3, D5FM38, O43897, O57460, P48740, P79953, P97435, P98064, Q4A3R3, Q5E9P5, Q60997, Q62381, Q6F3F9, Q7Z408, Q86SQ4, Q86UP6, Q8BNJ6, Q8BQH6, Q8BU25, Q8BZE1, Q8CHN8, Q8CIZ5, Q8NC67, Q8R4I7, Q8TDF5, Q90WD8, Q923L3, Q95218, Q96PZ7, Q9EQT1, Q9JJS0, Q9NQ36, Q9QZT0, Q9UGM3, Q9W332, A8WCC4, B3EX01, B8VIV4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2578813 | GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1 | Pathogenic |
SpliceAI
2639 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:72750623:A:C | acceptor_gain | 1.0000 |
| 18:72750628:T:C | acceptor_gain | 1.0000 |
| 18:72750628:T:TC | acceptor_gain | 1.0000 |
| 18:72750637:G:C | acceptor_gain | 1.0000 |
| 18:72750637:G:GC | acceptor_gain | 1.0000 |
| 18:72756028:CATTA:C | donor_loss | 1.0000 |
| 18:72756029:ATTAC:A | donor_loss | 1.0000 |
| 18:72756030:TTA:T | donor_loss | 1.0000 |
| 18:72756031:TA:T | donor_loss | 1.0000 |
| 18:72756032:A:T | donor_loss | 1.0000 |
| 18:72756033:C:T | donor_loss | 1.0000 |
| 18:72756033:CCT:C | donor_gain | 1.0000 |
| 18:72756148:C:CC | acceptor_gain | 1.0000 |
| 18:72783676:A:AC | donor_gain | 1.0000 |
| 18:72783677:C:CC | donor_gain | 1.0000 |
| 18:72783677:CGTT:C | donor_gain | 1.0000 |
| 18:72783680:T:A | donor_gain | 1.0000 |
| 18:72783803:G:C | donor_gain | 1.0000 |
| 18:72783907:C:CG | acceptor_loss | 1.0000 |
| 18:72783908:T:G | acceptor_loss | 1.0000 |
| 18:72794406:T:C | acceptor_gain | 1.0000 |
| 18:72858820:A:AC | donor_gain | 1.0000 |
| 18:72858821:C:CC | donor_gain | 1.0000 |
| 18:72859072:CGG:C | acceptor_gain | 1.0000 |
| 18:72859075:C:CC | acceptor_gain | 1.0000 |
| 18:72864802:CCTTA:C | donor_loss | 1.0000 |
| 18:72864803:CTTA:C | donor_loss | 1.0000 |
| 18:72864804:TTA:T | donor_loss | 1.0000 |
| 18:72864805:TACCT:T | donor_loss | 1.0000 |
| 18:72864806:A:T | donor_loss | 1.0000 |
AlphaMissense
3551 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:72756053:C:A | W321C | 1.000 |
| 18:72756053:C:G | W321C | 1.000 |
| 18:72794144:C:A | W204C | 1.000 |
| 18:72794144:C:G | W204C | 1.000 |
| 18:72794146:A:G | W204R | 1.000 |
| 18:72794146:A:T | W204R | 1.000 |
| 18:72858897:A:G | L133P | 1.000 |
| 18:72858984:C:G | R104P | 1.000 |
| 18:72859050:A:G | L82P | 1.000 |
| 18:72756065:A:C | C317W | 0.999 |
| 18:72756066:C:G | C317S | 0.999 |
| 18:72756066:C:T | C317Y | 0.999 |
| 18:72756067:A:G | C317R | 0.999 |
| 18:72756067:A:T | C317S | 0.999 |
| 18:72756083:G:C | C311W | 0.999 |
| 18:72756084:C:G | C311S | 0.999 |
| 18:72756084:C:T | C311Y | 0.999 |
| 18:72756085:A:G | C311R | 0.999 |
| 18:72756085:A:T | C311S | 0.999 |
| 18:72756104:A:C | C304W | 0.999 |
| 18:72756105:C:G | C304S | 0.999 |
| 18:72756106:A:G | C304R | 0.999 |
| 18:72756106:A:T | C304S | 0.999 |
| 18:72756119:G:C | C299W | 0.999 |
| 18:72756120:C:G | C299S | 0.999 |
| 18:72756120:C:T | C299Y | 0.999 |
| 18:72756121:A:G | C299R | 0.999 |
| 18:72756121:A:T | C299S | 0.999 |
| 18:72783736:C:A | W270C | 0.999 |
| 18:72783736:C:G | W270C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000023769 (18:72854461 A>G), RS1000024583 (18:72792818 A>G), RS1000026280 (18:72819094 T>C), RS1000058084 (18:72754421 T>C), RS1000071969 (18:72744342 G>A,T), RS1000084470 (18:72834186 A>T), RS1000094399 (18:72860903 T>C), RS1000208150 (18:72804194 C>G), RS1000236341 (18:72815158 G>A), RS1000242588 (18:72851227 C>A,T), RS1000261444 (18:72777644 G>A), RS1000270843 (18:72838658 G>A), RS1000274762 (18:72759924 C>T), RS1000283683 (18:72844498 C>T), RS1000335642 (18:72844214 T>C)
Disease associations
OMIM: gene MIM:607973 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001511_4 | Economic and political preferences (time) | 6.000000e-07 |
| GCST001856_49 | Thyroid hormone levels | 3.000000e-08 |
| GCST002304_11 | Fractional exhaled nitric oxide (childhood) | 1.000000e-06 |
| GCST002304_3 | Fractional exhaled nitric oxide (childhood) | 3.000000e-06 |
| GCST005171_13 | QT interval | 7.000000e-07 |
| GCST009391_1418 | Metabolite levels | 1.000000e-06 |
| GCST009391_999 | Metabolite levels | 1.000000e-06 |
| GCST010244_179 | Triglyceride levels | 2.000000e-08 |
| GCST90026412_6 | Severe autoimmune type 2 diabetes | 6.000000e-06 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004827 | economic and social preference |
| EFO:0004730 | hormone measurement |
| EFO:0005536 | nitric oxide exhalation measurement |
| EFO:0004682 | QT interval |
| EFO:0010452 | adenosine diphosphate measurement |
| EFO:0010540 | thiamine measurement |
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Estradiol | affects expression, affects cotreatment, increases expression | 2 |
| Testosterone | affects cotreatment, decreases expression, increases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| terbufos | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | decreases expression, increases abundance, affects cotreatment | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| aflatoxin B2 | increases methylation | 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, increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Decitabine | increases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Fonofos | increases methylation | 1 |
| Formaldehyde | increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methapyrilene | increases methylation | 1 |
| Parathion | increases methylation | 1 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 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.