SESN3
gene geneOn this page
Also known as SEST3MGC29667
Summary
SESN3 (sestrin 3, HGNC:23060) is a protein-coding gene on chromosome 11q21, encoding Sestrin-3 (P58005). May function as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway.
This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 143686 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 48 total
- MANE Select transcript:
NM_144665
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23060 |
| Approved symbol | SESN3 |
| Name | sestrin 3 |
| Location | 11q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SEST3, MGC29667 |
| Ensembl gene | ENSG00000149212 |
| Ensembl biotype | protein_coding |
| OMIM | 607768 |
| Entrez | 143686 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000278499, ENST00000416495, ENST00000536441, ENST00000537480, ENST00000542176, ENST00000634898
RefSeq mRNA: 2 — MANE Select: NM_144665
NM_001271594, NM_144665
CCDS: CCDS60938, CCDS8303
Canonical transcript exons
ENST00000536441 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000989389 | 95189779 | 95189961 |
| ENSE00000989390 | 95185256 | 95185492 |
| ENSE00000989391 | 95184420 | 95184594 |
| ENSE00000989392 | 95178710 | 95178828 |
| ENSE00000989393 | 95177719 | 95177909 |
| ENSE00000989394 | 95175498 | 95175642 |
| ENSE00002209055 | 95230783 | 95231202 |
| ENSE00002211016 | 95165513 | 95173341 |
| ENSE00003568554 | 95191404 | 95191601 |
| ENSE00003610301 | 95193457 | 95193522 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 99.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.4662 / max 664.7692, expressed in 1447 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 121863 | 14.5658 | 1427 |
| 121862 | 0.9155 | 387 |
| 121864 | 0.6926 | 306 |
| 121866 | 0.1130 | 26 |
| 121865 | 0.0703 | 22 |
| 121867 | 0.0548 | 10 |
| 121861 | 0.0542 | 17 |
Top tissues by expression
265 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.35 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.77 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.60 | gold quality |
| retina | UBERON:0000966 | 97.57 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.42 | gold quality |
| globus pallidus | UBERON:0001875 | 96.76 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 96.59 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.23 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 95.74 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.15 | gold quality |
| nasopharynx | UBERON:0001728 | 95.13 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.77 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 94.68 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 94.64 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.63 | gold quality |
| tendon | UBERON:0000043 | 94.52 | gold quality |
| tibia | UBERON:0000979 | 94.26 | gold quality |
| medulla oblongata | UBERON:0001896 | 94.21 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.21 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 94.13 | gold quality |
| ventral tegmental area | UBERON:0002691 | 94.05 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.03 | gold quality |
| oviduct epithelium | UBERON:0004804 | 94.00 | gold quality |
| upper arm skin | UBERON:0004263 | 93.95 | gold quality |
| ventricular zone | UBERON:0003053 | 93.83 | gold quality |
| skin of hip | UBERON:0001554 | 93.70 | gold quality |
| mammary duct | UBERON:0001765 | 93.58 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.50 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 93.50 | gold quality |
| right testis | UBERON:0004534 | 93.14 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-97 | no | 2394.37 |
| E-CURD-95 | no | 285.48 |
| E-GEOD-124858 | no | 142.31 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXO1, FOXO3, HSF1
miRNA regulators (miRDB)
364 targeting SESN3, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
Literature-anchored findings (GeneRIF, showing 19)
- FoxOs inhibit mTORC1 and activate Akt by inducing the expression of Sestrin3 and Rictor (PMID:20412774)
- HSF1/SESN3/reactive oxygen species/p21(Cip1/WAF1)-mediated deceleration of cell growth may contribute to cell defense systems protecting the organism from excessive proliferation of cells that overexpress activated Ras oncoproteins. (PMID:23388456)
- Sestrin 3 is upregulated in T2D and could influence skeletal muscle differentiation without altering glucose and lipid metabolism. (PMID:24129397)
- findings suggest the existence of a novel mechanism for the generation of antileukemic responses in CML cells, involving upregulation of SESN3 expression. (PMID:24260131)
- Suggest that inhibitory effect of ethanol on Sesn3 may play an important role in the development of ethanol-induced fatty liver. (PMID:24833709)
- SESN3 positively regulates the gene network module in macrophages, microglia and neurons. (PMID:25615886)
- study revealed high confidence set of BMos (integrated with DNase I hypersensitivity sites) in the upstream regulatory regions of SESN3 that could be bound by transcription factors from multiple families including FOXOs, SMADs, SOXs, TCFs and HNF4A. TF-TF network analysis established hubs of interaction that include SMAD3, TCF3, SMAD2, HDAC2, SOX2, TAL1 and TCF12 as well as the likely protein complexes formed between them (PMID:27466818)
- Treatment with cucurbitacin B to sestrin-3 siRNA treated EGFR-mutant cells further amplified the decrease in cell-viability and caused more sustained G2-phase cell cycle arrest, suggesting that these effects are mediated partly through sestrin-3. (PMID:27881463)
- in FOXO3-death-resistant cells no point mutations in the TP53-DBD were found-in these cells FOXO3-TP53 complexes are formed and FOXO3-binding to the BIM-promoter, but not the induction of the detoxifying protein SESN3, were prevented, which in turn increased chemo-protection in this type of high-stage-derived neuroblastoma (NB)cells (PMID:28869600)
- Results suggest that Sesn3 is a target gene for rno-miR-155. Moreover, the rno-miR-155 antagonist may induce the expression of Sesn3, and then indirectly decrease the damage of oxidative stress to protect the brain from epileptogenesis-associated impairments. (PMID:29191771)
- It is possible that the over expression of the SESN3 gene, known to suppress oxidative damage, may have contributed to the attenuation of fatigue in Puerto Rican Men during Radiotherapy for Prostate Cancer (PMID:29220067)
- The expression of SESN3 and (TSC2 and FOXO1) was identified in Lewy bodies from brainstem. (PMID:29966750)
- identified new interactions between miR-200 and the oxidative stress response SESN proteins that affect anoikis resistance in human endometrial cancer cells. (PMID:31073887)
- Circulating Sestrin Levels Are Increased in Hypertension Patients. (PMID:32626541)
- Colon and liver tissue damage detection using methylated SESN3 and PTK2B genes in circulating cell-free DNA in patients with acute graft-versus-host disease. (PMID:33082554)
- Oncogenic role of early growth response-1 in liver cancer through the regulation of the microRNA-675/sestrin 3 and the Wnt/beta-catenin signaling pathway. (PMID:34409922)
- The functions and roles of sestrins in regulating human diseases. (PMID:34979914)
- Genetic variations in a Sestrin2/Sestrin3/mTOR Axis and development of new-onset diabetes after kidney transplantation. (PMID:37918578)
- Inhibition of nucleo-cytoplasmic proteasome translocation by the aromatic amino acids or silencing Sestrin3-their sensing mediator-is tumor suppressive. (PMID:39266717)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sesn3 | ENSDARG00000015822 |
| mus_musculus | Sesn3 | ENSMUSG00000032009 |
| rattus_norvegicus | Sesn3 | ENSRNOG00000008173 |
| drosophila_melanogaster | Sesn | FBGN0034897 |
| caenorhabditis_elegans | sesn-1 | WBGENE00022279 |
Paralogs (2): SESN1 (ENSG00000080546), SESN2 (ENSG00000130766)
Protein
Protein identifiers
Sestrin-3 — P58005 (reviewed: P58005)
All UniProt accessions (3): P58005, A0A0U1RR17, F5H1K7
UniProt curated annotations — full annotation on UniProt →
Function. May function as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway. May also regulate the insulin-receptor signaling pathway through activation of TORC2. This metabolic regulator may also play a role in protection against oxidative and genotoxic stresses. May prevent the accumulation of reactive oxygen species (ROS) through the alkylhydroperoxide reductase activity born by the N-terminal domain of the protein.
Subunit / interactions. Interacts with the GATOR2 complex which is composed of MIOS, SEC13, SEH1L, WDR24 and WDR59; the interaction is not regulated by leucine. Interacts with RRAGA, RRAGB, RRAGC and RRAGD; may function as a guanine nucleotide dissociation inhibitor for RRAGs and regulate them. Interacts with the TORC2 complex; through RICTOR.
Subcellular location. Cytoplasm.
Tissue specificity. Widely expressed.
Domain organisation. The N-terminal domain may have an alkylhydroperoxide reductase activity. The C-terminal domain mediates interaction with GATOR2 through which it regulates TORC1 signaling.
Similarity. Belongs to the sestrin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P58005-1 | 1 | yes |
| P58005-3 | 3 | |
| P58005-4 | 2 |
RefSeq proteins (2): NP_001258523, NP_653266* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006730 | Sestrin | Family |
| IPR029032 | AhpD-like | Homologous_superfamily |
Pfam: PF04636
Catalyzed reactions (Rhea), 1 shown:
- a hydroperoxide + L-cysteinyl-[protein] = S-hydroxy-L-cysteinyl-[protein] + an alcohol (RHEA:67124)
UniProt features (13 total): splice variant 4, binding site 3, region of interest 2, sequence variant 2, chain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P58005-F1 | 82.23 | 0.61 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 121 (cysteine sulfenic acid (-soh) intermediate)
Ligand- & substrate-binding residues (3): 386–389; 398; 463
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-5628897 | TP53 Regulates Metabolic Genes |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-3700989 | Transcriptional Regulation by TP53 |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 473 (showing top):
GCM_MAP4K4, RRAGTTGT_UNKNOWN, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_AUTOPHAGY, YAATNRNNNYNATT_UNKNOWN, WWTAAGGC_UNKNOWN, GOBP_RESPONSE_TO_ACID_CHEMICAL, LFA1_Q6, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, FOXO4_01, FOXO1_01, GOBP_CELLULAR_RESPONSE_TO_ACID_CHEMICAL, AAAYRNCTG_UNKNOWN
GO Biological Process (13): positive regulation of macroautophagy (GO:0016239), response to insulin (GO:0032868), cellular response to amino acid starvation (GO:0034198), TORC2 signaling (GO:0038203), cellular response to glucose starvation (GO:0042149), glucose homeostasis (GO:0042593), regulation of insulin receptor signaling pathway (GO:0046626), regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051896), cellular response to L-leucine (GO:0071233), regulation of response to reactive oxygen species (GO:1901031), negative regulation of TORC1 signaling (GO:1904262), cellular response to leucine starvation (GO:1990253), cellular response to amino acid stimulus (GO:0071230)
GO Molecular Function (4): oxidoreductase activity, acting on peroxide as acceptor (GO:0016684), L-leucine binding (GO:0070728), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), TORC2 complex (GO:0031932), GATOR2 complex (GO:0061700)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Transcriptional Regulation by TP53 | 1 |
| RNA Polymerase II Transcription | 1 |
| Generic Transcription Pathway | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular response to starvation | 2 |
| positive regulation of autophagy | 1 |
| macroautophagy | 1 |
| regulation of macroautophagy | 1 |
| response to peptide hormone | 1 |
| response to amino acid starvation | 1 |
| TOR signaling | 1 |
| carbohydrate homeostasis | 1 |
| insulin receptor signaling pathway | 1 |
| regulation of signal transduction | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| response to L-leucine | 1 |
| cellular response to amino acid stimulus | 1 |
| cellular response to nitrogen compound | 1 |
| cellular response to oxygen-containing compound | 1 |
| response to reactive oxygen species | 1 |
| regulation of response to oxidative stress | 1 |
| negative regulation of TOR signaling | 1 |
| TORC1 signaling | 1 |
| regulation of TORC1 signaling | 1 |
| cellular response to amino acid starvation | 1 |
| response to amino acid | 1 |
| cellular response to acid chemical | 1 |
| oxidoreductase activity | 1 |
| amino acid binding | 1 |
| carboxylic acid binding | 1 |
| cation binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| TOR complex | 1 |
| protein-containing complex | 1 |
| Seh1-associated complex | 1 |
Protein interactions and networks
STRING
582 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SESN3 | CACNA2D2 | Q9NY47 | 844 |
| SESN3 | RICTOR | Q6R327 | 626 |
| SESN3 | TP53 | P04637 | 609 |
| SESN3 | WDR24 | Q96S15 | 580 |
| SESN3 | WDR59 | Q6PJI9 | 523 |
| SESN3 | TP53I3 | Q53FA7 | 498 |
| SESN3 | MIOS | Q9NXC5 | 490 |
| SESN3 | FOXO1 | Q12778 | 487 |
| SESN3 | NPRL3 | Q12980 | 478 |
| SESN3 | TSC2 | P49815 | 460 |
| SESN3 | MTOR | P42345 | 454 |
| SESN3 | NPRL2 | Q8WTW4 | 451 |
| SESN3 | FOXO3 | O43524 | 447 |
| SESN3 | PRDX1 | P35703 | 444 |
| SESN3 | RHEB | Q15382 | 433 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR24 | SESN2 | psi-mi:“MI:0914”(association) | 0.890 |
| WDR24 | SEC13 | psi-mi:“MI:0914”(association) | 0.730 |
| WDR24 | SESN3 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SESN3 | NPRL3 | psi-mi:“MI:0914”(association) | 0.350 |
| SESN3 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| DSCR9 | SESN3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (15): SESN3 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), WDR59 (Reconstituted Complex), MIOS (Reconstituted Complex), WDR24 (Reconstituted Complex), NPRL3 (Reconstituted Complex), MYCBP2 (Affinity Capture-MS), ZFP1 (Affinity Capture-MS), SESN3 (Affinity Capture-MS), SESN3 (Two-hybrid), SESN3 (Affinity Capture-MS), SESN3 (Affinity Capture-RNA)
ESM2 similar proteins: A0JM23, A4IGD2, A5PKL6, A6NHR9, A6QQZ0, D3ZAT9, F1QWA8, O35099, O88741, O94952, P0CI65, P58005, Q29RL0, Q2TBQ7, Q3U213, Q3UMF9, Q4R6P7, Q4R6Y8, Q5E9N5, Q5F204, Q5HYI7, Q5I0G3, Q5IH14, Q5R5S1, Q5R9R1, Q5RL51, Q5TGI0, Q60649, Q6AZT7, Q6DDI6, Q6DDT5, Q6DEY8, Q6NXY1, Q6YXW6, Q7TNH6, Q7Z494, Q8NBP0, Q8NEC7, Q8TB36, Q94E75
Diamond homologs: P58003, P58004, P58005, P58006, P58043, Q4R6P7, Q54WU6, Q58CN8, Q5RCB4, Q9CYP7, Q9W1K5, Q9Y6P5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SESN3 | “down-regulates activity” | GATOR2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1563 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:95173204:T:C | donor_gain | 1.0000 |
| 11:95173240:T:TA | donor_gain | 1.0000 |
| 11:95173255:T:TA | donor_gain | 1.0000 |
| 11:95173340:ACCTA:A | acceptor_loss | 1.0000 |
| 11:95173343:T:C | acceptor_loss | 1.0000 |
| 11:95175491:CACGT:C | donor_loss | 1.0000 |
| 11:95175492:ACGTA:A | donor_loss | 1.0000 |
| 11:95175495:TAC:T | donor_loss | 1.0000 |
| 11:95175496:A:AC | donor_gain | 1.0000 |
| 11:95175496:ACTTT:A | donor_loss | 1.0000 |
| 11:95175497:C:CA | donor_gain | 1.0000 |
| 11:95175497:CT:C | donor_gain | 1.0000 |
| 11:95175497:CTTT:C | donor_gain | 1.0000 |
| 11:95175497:CTTTT:C | donor_gain | 1.0000 |
| 11:95175638:CATAC:C | acceptor_gain | 1.0000 |
| 11:95175641:ACCT:A | acceptor_loss | 1.0000 |
| 11:95175643:C:T | acceptor_loss | 1.0000 |
| 11:95175644:T:A | acceptor_loss | 1.0000 |
| 11:95177714:CATA:C | donor_loss | 1.0000 |
| 11:95177715:ATAC:A | donor_loss | 1.0000 |
| 11:95177716:TACCT:T | donor_loss | 1.0000 |
| 11:95177717:A:C | donor_loss | 1.0000 |
| 11:95177718:CC:C | donor_loss | 1.0000 |
| 11:95177782:T:TA | donor_gain | 1.0000 |
| 11:95177905:TAGTC:T | acceptor_gain | 1.0000 |
| 11:95177906:AGTC:A | acceptor_gain | 1.0000 |
| 11:95177907:GTC:G | acceptor_gain | 1.0000 |
| 11:95177908:TC:T | acceptor_gain | 1.0000 |
| 11:95177908:TCCTA:T | acceptor_loss | 1.0000 |
| 11:95177909:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
3265 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:95175588:C:A | K434N | 1.000 |
| 11:95175588:C:G | K434N | 1.000 |
| 11:95177725:C:T | G414E | 1.000 |
| 11:95177898:C:A | W356C | 1.000 |
| 11:95177898:C:G | W356C | 1.000 |
| 11:95177900:A:G | W356R | 1.000 |
| 11:95177900:A:T | W356R | 1.000 |
| 11:95185465:A:G | W185R | 1.000 |
| 11:95185465:A:T | W185R | 1.000 |
| 11:95189805:A:G | W167R | 1.000 |
| 11:95189805:A:T | W167R | 1.000 |
| 11:95191423:C:A | R108M | 1.000 |
| 11:95173295:A:G | L480P | 0.999 |
| 11:95173310:C:G | R475P | 0.999 |
| 11:95173328:A:G | L469P | 0.999 |
| 11:95175498:T:A | K464N | 0.999 |
| 11:95175498:T:G | K464N | 0.999 |
| 11:95175514:A:G | F459S | 0.999 |
| 11:95175524:A:G | W456R | 0.999 |
| 11:95175524:A:T | W456R | 0.999 |
| 11:95175559:G:T | P444H | 0.999 |
| 11:95175564:G:C | C442W | 0.999 |
| 11:95175576:C:A | K438N | 0.999 |
| 11:95175576:C:G | K438N | 0.999 |
| 11:95175590:T:C | K434E | 0.999 |
| 11:95175626:A:G | Y422H | 0.999 |
| 11:95177725:C:A | G414V | 0.999 |
| 11:95177726:C:G | G414R | 0.999 |
| 11:95177726:C:T | G414R | 0.999 |
| 11:95177887:C:T | G360E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000054643 (11:95188979 A>G), RS1000092960 (11:95208295 C>G,T), RS1000118201 (11:95186320 TAAAACAAAAC>T,TAAAAC,TAAAACAAAACAAAAC), RS1000146597 (11:95234281 C>T), RS1000164822 (11:95207592 T>C), RS1000193686 (11:95188557 C>T), RS1000266162 (11:95193989 T>A,C), RS1000286092 (11:95222887 T>C), RS1000350296 (11:95196075 A>G), RS1000361925 (11:95204608 A>G,T), RS1000425337 (11:95200938 T>G), RS1000455250 (11:95204269 T>C), RS1000463211 (11:95178214 A>G), RS1000471397 (11:95181257 G>A,C), RS1000567694 (11:95208624 CA>C)
Disease associations
OMIM: gene MIM:607768 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005038_133 | Allergic disease (asthma, hay fever or eczema) | 2.000000e-11 |
| GCST005183_2 | Common carotid intima-media thickness | 1.000000e-06 |
| GCST005184_1 | Common carotid intima-media thickness in HIV infection | 5.000000e-06 |
| GCST007094_180 | Diastolic blood pressure | 3.000000e-11 |
| GCST007098_73 | Diastolic blood pressure | 5.000000e-06 |
| GCST007098_74 | Diastolic blood pressure | 7.000000e-06 |
| GCST007576_199 | Chronotype | 8.000000e-09 |
| GCST009615_13 | Triglyceride levels x loop diuretics use interaction | 1.000000e-06 |
| GCST010796_5346 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-09 |
| GCST010796_5347 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_5348 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_5349 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST90011899_59 | Aspartate aminotransferase levels | 1.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0008328 | chronotype measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004327 | electrocardiography |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
65 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | increases expression | 8 |
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 4 |
| Acetaminophen | affects expression, decreases expression, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 3 |
| Estradiol | affects cotreatment, decreases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression, affects expression | 3 |
| Cyclosporine | decreases expression | 3 |
| OTX015 | increases expression | 2 |
| methylmercuric chloride | increases expression, decreases expression | 2 |
| bisphenol A | affects cotreatment, decreases methylation, increases expression | 2 |
| trichostatin A | affects expression, decreases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| scriptaid | affects expression, increases expression | 2 |
| Vorinostat | increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation, affects expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| mivebresib | increases expression | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| beta-lapachone | decreases expression | 1 |
| resorcinol | decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| lei gong teng | increases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases 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.