FBXO3
gene geneOn this page
Also known as FBX3FBA
Summary
FBXO3 (F-box protein 3, HGNC:13582) is a protein-coding gene on chromosome 11p13, encoding F-box only protein 3 (Q9UK99). Substrate recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, SCF(FBXO3), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3’ end.
Source: NCBI Gene 26273 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_012175
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13582 |
| Approved symbol | FBXO3 |
| Name | F-box protein 3 |
| Location | 11p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FBX3, FBA |
| Ensembl gene | ENSG00000110429 |
| Ensembl biotype | protein_coding |
| OMIM | 609089 |
| Entrez | 26273 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000265651, ENST00000448981, ENST00000526785, ENST00000526952, ENST00000527772, ENST00000529137, ENST00000530013, ENST00000530401, ENST00000531080, ENST00000532057, ENST00000532927, ENST00000533103, ENST00000534136, ENST00000873667, ENST00000958856
RefSeq mRNA: 2 — MANE Select: NM_012175
NM_012175, NM_033406
CCDS: CCDS44566, CCDS7887
Canonical transcript exons
ENST00000265651 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002153872 | 33774394 | 33774520 |
| ENSE00002163474 | 33740944 | 33742084 |
| ENSE00003464155 | 33768851 | 33769014 |
| ENSE00003499738 | 33755771 | 33755975 |
| ENSE00003530684 | 33770741 | 33770830 |
| ENSE00003568026 | 33754455 | 33754500 |
| ENSE00003589083 | 33748777 | 33748892 |
| ENSE00003610864 | 33747130 | 33747320 |
| ENSE00003615313 | 33758487 | 33758601 |
| ENSE00003646248 | 33751523 | 33751607 |
| ENSE00003661823 | 33750539 | 33750661 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 98.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.4290 / max 132.9588, expressed in 1777 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119223 | 16.3384 | 1777 |
| 119220 | 0.0906 | 17 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.10 | gold quality |
| biceps brachii | UBERON:0001507 | 97.67 | gold quality |
| amniotic fluid | UBERON:0000173 | 97.26 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.10 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.25 | gold quality |
| triceps brachii | UBERON:0001509 | 94.65 | gold quality |
| diaphragm | UBERON:0001103 | 94.64 | gold quality |
| body of tongue | UBERON:0011876 | 94.45 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.41 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 94.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.36 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.18 | gold quality |
| endothelial cell | CL:0000115 | 93.67 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.57 | gold quality |
| cortical plate | UBERON:0005343 | 93.55 | gold quality |
| vastus lateralis | UBERON:0001379 | 93.25 | gold quality |
| muscle of leg | UBERON:0001383 | 93.13 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.03 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 92.88 | gold quality |
| muscle organ | UBERON:0001630 | 92.83 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 92.83 | gold quality |
| renal glomerulus | UBERON:0000074 | 92.75 | gold quality |
| oral cavity | UBERON:0000167 | 92.66 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.59 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.54 | gold quality |
| eye | UBERON:0000970 | 92.36 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.29 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 92.18 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.87 | gold quality |
| nasopharynx | UBERON:0001728 | 91.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting FBXO3, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
Literature-anchored findings (GeneRIF, showing 9)
- Fbx3 formed SCF(Fbx3) ubiquitin ligase and promoted the degradation of HIPK2 and p300 by the ubiquitin-proteasome pathway (PMID:18809579)
- controls TRAF adaptor stability to regulate inflammation (PMID:23542741)
- Virulence factor NSs of rift valley fever virus recruits the FBXO3 to degrade subunit p62 of general transcription factor TFIIH. (PMID:24403578)
- Fbxo3 promotes the proteasomal degradation of Smurf1. Fbxo3 promotes the poly-ubiquitination of Smurf1. (PMID:25721664)
- we report the X-ray structure of the human FBxo3 ApaG domain, residues 278-407, at 2.0 A resolution (PMID:27010866)
- AIRE, which is phosphorylated on two specific residues near its N terminus, then binds to the F-box protein 3 (FBXO3) E3 ubiquitin ligase. In turn, this SCF(FBXO3) (SKP1-CUL1-F box) complex ubiquitylates AIRE, increases its binding to the positive transcription elongation factor b (P-TEFb), and potentiates its transcriptional activity. (PMID:27365398)
- reveal that FBXO46 is a crucial proteasomal regulator of FBXO31 and thereby prevents senescence in normal growth conditions (PMID:30171069)
- FBXO3 potentiates vascular inflammation and atherosclerosis that can be effectively mitigated by a small molecule inhibitor. (PMID:30448480)
- FBXO3 stabilizes USP4 and Twist1 to promote PI3K-mediated breast cancer metastasis. (PMID:38134227)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbxo3 | ENSDARG00000029242 |
| mus_musculus | Fbxo3 | ENSMUSG00000027180 |
| rattus_norvegicus | Fbxo3 | ENSRNOG00000009549 |
Paralogs (1): POLDIP2 (ENSG00000004142)
Protein
Protein identifiers
F-box only protein 3 — Q9UK99 (reviewed: Q9UK99)
All UniProt accessions (6): Q9UK99, B4E3U2, E9PJM3, E9PL46, G3V1E0, Q49AF1
UniProt curated annotations — full annotation on UniProt →
Function. Substrate recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, SCF(FBXO3), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Mediates the ubiquitination of HIPK2 and probably that of EP300, leading to rapid degradation by the proteasome. In the presence of PML, HIPK2 ubiquitination still occurs, but degradation is prevented. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. The SCF(FBXO3) also acts as a regulator of inflammation by mediating ubiquitination and degradation of FBXL2 in response to lipopolysaccharide (LPS). The SCF(FBXO3) complex specifically recognizes FBXL2 phosphorylated at ‘Thr-404’ and promotes its ubiquitination. (Microbial infection) Associates with the Rift valley fever virus NSs to form a remodeled E3 ligase that triggers efficient proteasomal degradation of targeted proteins. The filamentous E3 ligase targets the TFIIH complex leading to robust inhibition of antiviral immunity and enhances viral pathogenesis.
Subunit / interactions. Part of a SCF (SKP1-cullin-F-box) protein ligase complex SCF(FBXO3) consisting of FBXO3, SKP1, CUL1 and RBX1. Interacts with PML, interaction is direct and takes place either alone or within the SCF complex. (Microbial infection) Interacts (via ApaG domain) with Rift valley fever virus NSs helical filament; this interaction forms a filamentous E3 which mediates degradation of TFIIH complex through interaction with GT2H1.
Subcellular location. Nucleus.
Pathway. Protein modification; protein ubiquitination.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UK99-1 | 1 | yes |
| Q9UK99-2 | 2 | |
| Q9UK99-3 | 3 |
RefSeq proteins (2): NP_036307, NP_208385 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001810 | F-box_dom | Domain |
| IPR007474 | ApaG_domain | Domain |
| IPR018958 | Knr4/Smi1-like_dom | Domain |
| IPR036047 | F-box-like_dom_sf | Homologous_superfamily |
| IPR036767 | ApaG_sf | Homologous_superfamily |
| IPR037883 | Knr4/Smi1-like_sf | Homologous_superfamily |
| IPR052121 | F-box_SCF_Substrate_Recog | Family |
Pfam: PF04379, PF09346, PF12937
UniProt features (25 total): strand 7, sequence conflict 6, splice variant 3, domain 2, helix 2, chain 1, turn 1, region of interest 1, compositionally biased region 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5HDW | X-RAY DIFFRACTION | 2 |
| 9KBD | ELECTRON MICROSCOPY | 3.7 |
| 9KBF | ELECTRON MICROSCOPY | 3.74 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UK99-F1 | 88.38 | 0.82 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 156 (showing top):
BENPORATH_ES_WITH_H3K27ME3, GOBP_INFLAMMATORY_RESPONSE, CHUNG_BLISTER_CYTOTOXICITY_DN, GCM_ZNF198, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GGGTGGRR_PAX4_03, SP1_Q2_01, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, WANG_LMO4_TARGETS_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_RESPONSE_TO_LIPID, GCM_SUFU, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS
GO Biological Process (5): proteolysis (GO:0006508), protein ubiquitination (GO:0016567), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), response to lipopolysaccharide (GO:0032496), transcription by RNA polymerase II (GO:0006366)
GO Molecular Function (3): ubiquitin-protein transferase activity (GO:0004842), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein metabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| response to molecule of bacterial origin | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| DNA-templated transcription | 1 |
| ubiquitin-like protein transferase activity | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
994 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXO3 | SKP1 | P34991 | 952 |
| FBXO3 | CUL1 | Q13616 | 934 |
| FBXO3 | KIAA1549L | Q6ZVL6 | 872 |
| FBXO3 | FBXL2 | Q9UKC9 | 723 |
| FBXO3 | POLD2 | P49005 | 669 |
| FBXO3 | C11orf91 | Q3C1V1 | 604 |
| FBXO3 | FBXL15 | Q9H469 | 596 |
| FBXO3 | CEACAM1 | P13688 | 585 |
| FBXO3 | SAP30 | O75446 | 525 |
| FBXO3 | LMO2 | P25791 | 500 |
| FBXO3 | FBXL3 | Q9UKT7 | 496 |
| FBXO3 | CUL7 | Q14999 | 487 |
| FBXO3 | FBXO11 | Q86XK2 | 453 |
| FBXO3 | PRIMPOL | Q96LW4 | 453 |
| FBXO3 | RPE | Q96AT9 | 450 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SKP1 | FBXO3 | psi-mi:“MI:0915”(physical association) | 0.920 |
| FBXO3 | SKP1 | psi-mi:“MI:0914”(association) | 0.920 |
| FBXO3 | SKP1 | psi-mi:“MI:0915”(physical association) | 0.920 |
| FBXO3 | CUL1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| CUL4A | COPS2 | psi-mi:“MI:0914”(association) | 0.640 |
| SKP1 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL1 | FBXO21 | psi-mi:“MI:0914”(association) | 0.600 |
| tat | PPM1G | psi-mi:“MI:0914”(association) | 0.560 |
| FBXO3 | tat | psi-mi:“MI:0915”(physical association) | 0.560 |
| IGFBP4 | CETN3 | psi-mi:“MI:0914”(association) | 0.530 |
| NOTCH2 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| SKP1 | FBXO3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXO3 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXO3 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| NEDD8 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| NEDD8 | FBXO21 | psi-mi:“MI:0914”(association) | 0.350 |
| IDS | COCH | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP3 | RNH1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (112): FBXO3 (Affinity Capture-Western), FBXO3 (Affinity Capture-MS), SMURF1 (Reconstituted Complex), SMURF1 (Affinity Capture-Western), FBXO3 (Affinity Capture-Western), SMURF1 (Biochemical Activity), SKP1 (Two-hybrid), FBXO3 (Affinity Capture-MS), FBXO3 (Affinity Capture-MS), FBXO3 (Affinity Capture-MS), FBXO3 (Affinity Capture-Western), AIRE (Affinity Capture-Western), FBXO3 (Affinity Capture-MS), FBXO3 (Affinity Capture-MS), FBXO3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2QC33, A0FKG7, A6H7H7, F1N9S8, O95453, P0C0T1, P42694, P50747, P69341, Q0IIH8, Q0VGM9, Q13572, Q28559, Q4R528, Q5BJZ6, Q5F480, Q5R699, Q5RC51, Q5ZIA0, Q5ZIW7, Q640G7, Q6DDJ3, Q6DFV5, Q6DG88, Q6DJB3, Q6GR37, Q6NYU2, Q6PZ02, Q6PZ03, Q6PZ05, Q7T0P6, Q80UY1, Q80YV4, Q811C2, Q8BGE6, Q8BYN3, Q8C9S8, Q8N4J0, Q8VDG3, Q8WYN0
Diamond homologs: A0L065, A1RMU9, A3D187, A3QBA2, A4W6F6, A4Y434, A4Z2J6, A5EA34, A6H7H7, A6U5R0, A6UZ95, A6WK58, A6WVX4, A7HQ48, A7ICI5, A7ZHE3, A7ZW02, A8FRV1, A8G9N9, A8H0V1, A8ILE7, A9L437, A9M7Z1, A9VZN6, B0CJT2, B0RUI4, B0UC46, B1LXV0, B1XC51, B1ZJ42, B2III9, B2S946, B2VGP5, B3PNM4, B3QCE1, B4F2I3, B5ENR7, B5YZ88, B5ZNW9, B6IPQ9
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FBXO3 | “down-regulates quantity by destabilization” | HIPK2 | binding |
| FBXO3 | “down-regulates quantity by destabilization” | EP300 | binding |
| FBXO3 | “up-regulates activity” | “Cullin 1-RBX1-Skp1” | binding |
| FBXO3 | “down-regulates quantity by destabilization” | SMURF1 | binding |
| FBXO3 | “down-regulates quantity by destabilization” | SQSTM1 | binding |
| FBXO3 | “down-regulates quantity by destabilization” | FBXL2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 60 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Neddylation | 9 | 10.7× | 4e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intrinsic apoptotic signaling pathway | 5 | 33.2× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2032 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:33742080:ATTTC:A | acceptor_gain | 1.0000 |
| 11:33742081:TTTC:T | acceptor_gain | 1.0000 |
| 11:33742083:TC:T | acceptor_gain | 1.0000 |
| 11:33742084:CC:C | acceptor_gain | 1.0000 |
| 11:33742086:T:C | acceptor_gain | 1.0000 |
| 11:33747234:AT:A | donor_gain | 1.0000 |
| 11:33747235:T:TA | donor_gain | 1.0000 |
| 11:33747239:T:TA | donor_gain | 1.0000 |
| 11:33748772:CATA:C | donor_loss | 1.0000 |
| 11:33748773:ATAC:A | donor_loss | 1.0000 |
| 11:33748776:C:CA | donor_loss | 1.0000 |
| 11:33748776:CCAA:C | donor_gain | 1.0000 |
| 11:33748779:A:AC | donor_gain | 1.0000 |
| 11:33748780:C:CC | donor_gain | 1.0000 |
| 11:33748780:CTA:C | donor_gain | 1.0000 |
| 11:33750533:TCTCA:T | donor_loss | 1.0000 |
| 11:33750534:CTCAC:C | donor_loss | 1.0000 |
| 11:33750535:TCACC:T | donor_loss | 1.0000 |
| 11:33750536:CACCT:C | donor_loss | 1.0000 |
| 11:33750537:A:AG | donor_loss | 1.0000 |
| 11:33750538:C:CA | donor_loss | 1.0000 |
| 11:33750657:CATAT:C | acceptor_gain | 1.0000 |
| 11:33750659:TAT:T | acceptor_gain | 1.0000 |
| 11:33750662:C:CC | acceptor_gain | 1.0000 |
| 11:33751609:T:C | acceptor_loss | 1.0000 |
| 11:33758485:A:AC | donor_gain | 1.0000 |
| 11:33758485:A:T | donor_loss | 1.0000 |
| 11:33758485:AC:A | donor_gain | 1.0000 |
| 11:33758486:C:CA | donor_loss | 1.0000 |
| 11:33758486:C:CC | donor_gain | 1.0000 |
AlphaMissense
3092 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:33747172:G:C | F399L | 1.000 |
| 11:33747172:G:T | F399L | 1.000 |
| 11:33747173:A:G | F399S | 1.000 |
| 11:33747174:A:G | F399L | 1.000 |
| 11:33747236:C:A | G378V | 1.000 |
| 11:33747236:C:T | G378E | 1.000 |
| 11:33747237:C:G | G378R | 1.000 |
| 11:33747237:C:T | G378R | 1.000 |
| 11:33747274:G:C | S365R | 1.000 |
| 11:33747274:G:T | S365R | 1.000 |
| 11:33747276:T:G | S365R | 1.000 |
| 11:33748785:C:T | G347E | 1.000 |
| 11:33748791:C:T | G345E | 1.000 |
| 11:33748792:C:G | G345R | 1.000 |
| 11:33748792:C:T | G345R | 1.000 |
| 11:33748832:C:A | W331C | 1.000 |
| 11:33748832:C:G | W331C | 1.000 |
| 11:33748833:C:G | W331S | 1.000 |
| 11:33748834:A:G | W331R | 1.000 |
| 11:33748834:A:T | W331R | 1.000 |
| 11:33748839:C:G | R329P | 1.000 |
| 11:33748840:G:C | R329G | 1.000 |
| 11:33748840:G:T | R329S | 1.000 |
| 11:33748848:A:C | L326W | 1.000 |
| 11:33748848:A:G | L326S | 1.000 |
| 11:33750545:C:G | R309P | 1.000 |
| 11:33750553:G:C | F306L | 1.000 |
| 11:33750553:G:T | F306L | 1.000 |
| 11:33750555:A:G | F306L | 1.000 |
| 11:33750580:G:C | S297R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005304 (11:33769984 T>G), RS1000030172 (11:33775729 C>G), RS1000159511 (11:33762745 AC>A), RS1000302687 (11:33755044 T>C), RS1000386894 (11:33741713 C>T), RS1000432753 (11:33748489 CA>C), RS1000804625 (11:33749674 C>CT), RS1000817270 (11:33747952 G>A), RS1000853467 (11:33741700 A>G), RS1001135004 (11:33762558 A>C), RS1001312825 (11:33763125 C>G), RS1001364879 (11:33755267 T>C), RS1001653188 (11:33762258 G>A), RS1001705556 (11:33762596 G>A), RS1001860740 (11:33755115 A>C)
Disease associations
OMIM: gene MIM:609089 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002097_15 | Coronary artery calcification | 4.000000e-06 |
| GCST007565_99 | Morning person | 1.000000e-27 |
| GCST007576_296 | Chronotype | 1.000000e-27 |
| GCST010136_39 | Fruit consumption | 1.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004723 | coronary artery calcification |
| EFO:0008328 | chronotype measurement |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — E3 ubiquitin ligase components
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| BC-1215 | Inhibition | 5.64 | pIC50 |
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic | affects expression, decreases expression, increases abundance, affects cotreatment, increases expression | 4 |
| Valproic Acid | decreases methylation, increases expression, affects expression, decreases expression | 4 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 2 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Air Pollutants | increases oxidation, affects cotreatment, decreases expression, increases abundance | 2 |
| Cadmium | increases abundance, increases expression, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment, decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Calcitriol | 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_E0U7 | Ubigene Hep G2 FBXO3 KO | Cancer cell line | Male |
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.