FBXO17
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Also known as FBG4FLJ25205MGC9379FLJ11798Fbx17
Summary
FBXO17 (F-box protein 17, HGNC:18754) is a protein-coding gene on chromosome 19q13.2, encoding F-box only protein 17 (Q96EF6). Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
This gene encodes a member of the F-box protein family which is characterized by the F-box motif. 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 and it contains an F-box domain. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 115290 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 67 total
- MANE Select transcript:
NM_024907
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18754 |
| Approved symbol | FBXO17 |
| Name | F-box protein 17 |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17 |
| Ensembl gene | ENSG00000269190 |
| Ensembl biotype | protein_coding |
| OMIM | 609094 |
| Entrez | 115290 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 21 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000292852, ENST00000595329, ENST00000596025, ENST00000597696, ENST00000599418, ENST00000599598, ENST00000601394, ENST00000856598, ENST00000856599, ENST00000856600, ENST00000856601, ENST00000856602, ENST00000856603, ENST00000856604, ENST00000856605, ENST00000856606, ENST00000856607, ENST00000856608, ENST00000939439, ENST00000939440, ENST00000939441, ENST00000939442, ENST00000944470, ENST00000944471, ENST00000944472
RefSeq mRNA: 2 — MANE Select: NM_024907
NM_024907, NM_148169
CCDS: CCDS12526
Canonical transcript exons
ENST00000292852 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001199310 | 38941401 | 38942751 |
| ENSE00002493229 | 38949971 | 38950336 |
| ENSE00003127372 | 38975586 | 38975742 |
| ENSE00003458936 | 38948567 | 38948678 |
| ENSE00003481172 | 38946472 | 38946567 |
| ENSE00003642065 | 38944969 | 38945104 |
Expression profiles
Bgee: expression breadth ubiquitous, 135 present calls, max score 95.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0830 / max 57.8243, expressed in 1379 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180834 | 6.3800 | 1370 |
| 180835 | 0.7030 | 475 |
Top tissues by expression
139 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 95.42 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.00 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 93.06 | gold quality |
| right ovary | UBERON:0002118 | 93.05 | gold quality |
| cortex of kidney | UBERON:0001225 | 93.01 | gold quality |
| left ovary | UBERON:0002119 | 92.72 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.58 | gold quality |
| ovary | UBERON:0000992 | 92.42 | gold quality |
| liver | UBERON:0002107 | 92.41 | gold quality |
| kidney | UBERON:0002113 | 92.14 | gold quality |
| body of uterus | UBERON:0009853 | 91.99 | gold quality |
| endocervix | UBERON:0000458 | 91.88 | gold quality |
| myometrium | UBERON:0001296 | 90.94 | gold quality |
| tibial artery | UBERON:0007610 | 90.79 | gold quality |
| popliteal artery | UBERON:0002250 | 90.78 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 90.75 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.48 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.42 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.36 | gold quality |
| cerebellum | UBERON:0002037 | 90.32 | gold quality |
| left uterine tube | UBERON:0001303 | 90.22 | gold quality |
| adipose tissue | UBERON:0001013 | 89.79 | gold quality |
| tibial nerve | UBERON:0001323 | 89.59 | gold quality |
| right coronary artery | UBERON:0001625 | 89.48 | gold quality |
| ascending aorta | UBERON:0001496 | 89.44 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.39 | gold quality |
| ectocervix | UBERON:0012249 | 89.30 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.24 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 88.92 | gold quality |
| left coronary artery | UBERON:0001626 | 88.81 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.11 |
| E-MTAB-6386 | no | 3.23 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
50 targeting FBXO17, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-10B-3P | 99.04 | 66.98 | 988 |
| HSA-MIR-4742-5P | 98.89 | 68.41 | 1542 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
Literature-anchored findings (GeneRIF, showing 10)
- the apparent occurrence of an unusual TG 3’ splice site in intron 3 is discussed (PMID:17672918)
- our studies identify a previously unreported role of FBXO17 in regulating IFN-I signaling (PMID:27956528)
- identified FBXO17 as an F-box protein subunit that recognizes and mediates GSK3beta polyubiquitination. (PMID:28298444)
- Studied expression levels of F-box protein 17 (FBX017) in high grade gliomas; found patients with higher FBXO17 expression had a shorter overall survival. (PMID:30064493)
- These data support a role for FBXO17 overexpression in regulating cell proliferation and survival through modulation of Akt and ERK kinase activation and a potential role for the F-box subunit in modulating tumorigenesis in lung cancers. (PMID:30359271)
- FBXO17 promotes malignant progression of hepatocellular carcinoma by activating wnt/beta-catenin pathway. (PMID:31646557)
- Identification and validation of an immune-associated RNA-binding proteins signature to predict clinical outcomes and therapeutic responses in colon cancer patients. (PMID:34702278)
- F-box protein 17 promotes glioma progression by regulating glycolysis pathway. (PMID:35044455)
- Circ_0008717 promotes renal cell carcinoma progression by upregulating FBXO17 via targeting miR-217. (PMID:35357059)
- FBXO17 Inhibits the Wnt/beta-Catenin Pathway and Proliferation of Ishikawa Cells. (PMID:36035375)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fbxo17 | ENSMUSG00000030598 |
| rattus_norvegicus | Fbxo17 | ENSRNOG00000019942 |
Paralogs (5): FBXO2 (ENSG00000116661), FBXO6 (ENSG00000116663), FBXO44 (ENSG00000132879), FBXO27 (ENSG00000161243), NCCRP1 (ENSG00000188505)
Protein
Protein identifiers
F-box only protein 17 — Q96EF6 (reviewed: Q96EF6)
Alternative names: F-box only protein 26
All UniProt accessions (4): Q96EF6, M0QYI3, M0QYV7, M0QZ95
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides. Also recognizes sulfated glycans. Does not bind high-mannose glycoproteins.
Subunit / interactions. Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with SKP1 and CUL1.
Tissue specificity. Expressed in heart, skeletal muscle, liver and kidney. Expressed at lower levels in spleen and brain.
RefSeq proteins (2): NP_079183, NP_680474 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001810 | F-box_dom | Domain |
| IPR007397 | F-box-assoc_dom | Domain |
| IPR008979 | Galactose-bd-like_sf | Homologous_superfamily |
| IPR036047 | F-box-like_dom_sf | Homologous_superfamily |
| IPR039752 | F-box_only | Family |
Pfam: PF04300, PF12937
UniProt features (4 total): domain 2, chain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96EF6-F1 | 90.35 | 0.78 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 257–258 | reduces interaction with glycosylated concanavalin-a in vitro. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 118 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_SCF_DEPENDENT_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_ERAD_PATHWAY, GOBP_PROTEIN_CATABOLIC_PROCESS, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOCC_SCF_UBIQUITIN_LIGASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX
GO Biological Process (3): glycoprotein catabolic process (GO:0006516), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), ERAD pathway (GO:0036503)
GO Molecular Function (2): protein binding (GO:0005515), ubiquitin protein ligase activity (GO:0061630)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| glycoprotein metabolic process | 1 |
| protein catabolic process | 1 |
| carbohydrate derivative catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| response to endoplasmic reticulum stress | 1 |
| response to chemical | 1 |
| binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
456 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXO17 | SKP1 | P34991 | 708 |
| FBXO17 | CUL1 | Q13616 | 686 |
| FBXO17 | B7Z1P2 | B7Z1P2 | 593 |
| FBXO17 | FBXL3 | Q9UKT7 | 537 |
| FBXO17 | FBXO2 | Q9UK22 | 480 |
| FBXO17 | ELOVL2 | Q9NXB9 | 438 |
| FBXO17 | FBXO42 | Q6P3S6 | 435 |
| FBXO17 | FBXO27 | Q8NI29 | 402 |
| FBXO17 | FBXW12 | Q6X9E4 | 393 |
| FBXO17 | FBXO16 | Q8IX29 | 376 |
| FBXO17 | GOLGA6L9 | A6NEM1 | 370 |
| FBXO17 | FBXO9 | Q9UK97 | 350 |
| FBXO17 | FBXL19 | Q6PCT2 | 348 |
| FBXO17 | SH3RF1 | Q7Z6J0 | 341 |
| FBXO17 | FBXL22 | Q6P050 | 341 |
IntAct
113 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SKP1 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.920 |
| FBXO17 | SKP1 | psi-mi:“MI:0915”(physical association) | 0.920 |
| KLHL12 | CUL3 | psi-mi:“MI:0914”(association) | 0.920 |
| FBXO17 | CUL1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| SKP1 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL1 | FBXO21 | psi-mi:“MI:0914”(association) | 0.600 |
| FBXO17 | CDCA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KPRP | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUNX1 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DZIP3 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADAMTSL4 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT75 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USP54 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAXO1 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBY2 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTPN21 | FBXO17 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (107): FBXO17 (Two-hybrid), HSPD1 (Affinity Capture-MS), NMT1 (Affinity Capture-MS), NMT2 (Affinity Capture-MS), COPS2 (Affinity Capture-MS), NDUFA2 (Affinity Capture-MS), COPS7B (Affinity Capture-MS), COPS4 (Affinity Capture-MS), SKP1 (Affinity Capture-MS), CUL1 (Affinity Capture-MS), COPS6 (Affinity Capture-MS), CLPP (Affinity Capture-MS), SARS2 (Affinity Capture-MS), COPS5 (Affinity Capture-MS), FBXW2 (Affinity Capture-MS)
ESM2 similar proteins: A5PJU7, A8MQ27, F1MLB4, F1MX48, F1SAM7, I3L5V6, O75425, O95382, P36916, Q08DG4, Q0MW30, Q14451, Q2YD98, Q32P44, Q3MIP1, Q3T033, Q3UPE3, Q3UV16, Q505F5, Q5EBM0, Q5U651, Q5ZM20, Q641Q3, Q6MG06, Q6SZW1, Q6ZTW0, Q7T0L4, Q8BGG6, Q8BH83, Q8C0R7, Q8K0Y7, Q8N9W5, Q8R2K4, Q8TE68, Q8VC03, Q96BM1, Q96E14, Q96EF6, Q96EY9, Q99JB7
Diamond homologs: G3X9C2, Q17QK6, Q3SX24, Q568V3, Q6AY27, Q6DIA9, Q6ZVX7, Q80UW2, Q8NI29, Q923V4, Q96EF6, Q9H4M3, Q9N0C8, Q9NRD1, Q9QZM8, Q9UK22, Q8BK26, Q9QZN4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 54 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 |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 7 | 52.6× | 8e-09 |
| Formation of TC-NER Pre-Incision Complex | 7 | 39.0× | 5e-08 |
| GSK3B-mediated proteasomal degradation of PD-L1(CD274) | 5 | 31.3× | 3e-05 |
| Cargo recognition for clathrin-mediated endocytosis | 7 | 19.3× | 5e-06 |
| Neddylation | 13 | 16.2× | 2e-10 |
| Antigen processing: Ubiquitination & Proteasome degradation | 9 | 8.8× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 5 | 93.6× | 2e-07 |
| protein neddylation | 6 | 84.3× | 2e-08 |
| protein monoubiquitination | 5 | 34.4× | 3e-05 |
| protein K48-linked ubiquitination | 5 | 16.9× | 5e-04 |
| protein ubiquitination | 9 | 7.5× | 2e-04 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 7 | 7.3× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1844 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:38942748:AGACC:A | acceptor_loss | 1.0000 |
| 19:38942749:GACCT:G | acceptor_loss | 1.0000 |
| 19:38942752:C:CG | acceptor_loss | 1.0000 |
| 19:38942753:T:C | acceptor_loss | 1.0000 |
| 19:38948565:A:AC | donor_gain | 1.0000 |
| 19:38948566:C:CC | donor_gain | 1.0000 |
| 19:38948566:CT:C | donor_gain | 1.0000 |
| 19:38948675:CCCT:C | acceptor_gain | 1.0000 |
| 19:38948676:CCTC:C | acceptor_gain | 1.0000 |
| 19:38948679:C:CC | acceptor_gain | 1.0000 |
| 19:38949970:CG:C | donor_gain | 1.0000 |
| 19:38949970:CGCT:C | donor_gain | 1.0000 |
| 19:38949975:T:A | donor_gain | 1.0000 |
| 19:38950054:T:TA | donor_gain | 1.0000 |
| 19:38942681:A:AC | donor_gain | 0.9900 |
| 19:38942682:C:CC | donor_gain | 0.9900 |
| 19:38942682:CGT:C | donor_gain | 0.9900 |
| 19:38942694:A:AC | donor_gain | 0.9900 |
| 19:38942695:C:CC | donor_gain | 0.9900 |
| 19:38942695:CTG:C | donor_gain | 0.9900 |
| 19:38946564:CCAT:C | acceptor_gain | 0.9900 |
| 19:38946565:CATC:C | acceptor_gain | 0.9900 |
| 19:38948552:A:AC | donor_gain | 0.9900 |
| 19:38948553:C:CC | donor_gain | 0.9900 |
| 19:38948559:CCACT:C | donor_loss | 0.9900 |
| 19:38948561:ACTCA:A | donor_loss | 0.9900 |
| 19:38948562:CT:C | donor_loss | 0.9900 |
| 19:38948562:CTCAC:C | donor_loss | 0.9900 |
| 19:38948563:T:TA | donor_loss | 0.9900 |
| 19:38948563:T:TG | donor_loss | 0.9900 |
AlphaMissense
1774 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:38948581:G:C | F149L | 0.995 |
| 19:38948581:G:T | F149L | 0.995 |
| 19:38948583:A:G | F149L | 0.995 |
| 19:38946555:C:A | K158N | 0.994 |
| 19:38946555:C:G | K158N | 0.994 |
| 19:38945020:G:C | F214L | 0.993 |
| 19:38945020:G:T | F214L | 0.993 |
| 19:38945022:A:G | F214L | 0.993 |
| 19:38948664:A:G | W122R | 0.992 |
| 19:38948664:A:T | W122R | 0.992 |
| 19:38942737:G:C | F236L | 0.991 |
| 19:38942737:G:T | F236L | 0.991 |
| 19:38942739:A:G | F236L | 0.991 |
| 19:38948637:A:G | W131R | 0.991 |
| 19:38948637:A:T | W131R | 0.991 |
| 19:38942738:A:G | F236S | 0.990 |
| 19:38948662:C:A | W122C | 0.990 |
| 19:38948662:C:G | W122C | 0.990 |
| 19:38946487:A:G | I181T | 0.987 |
| 19:38948569:G:C | F153L | 0.987 |
| 19:38948569:G:T | F153L | 0.987 |
| 19:38948571:A:G | F153L | 0.987 |
| 19:38946527:C:A | G168W | 0.986 |
| 19:38948576:G:A | T151I | 0.986 |
| 19:38948582:A:C | F149C | 0.985 |
| 19:38948582:A:G | F149S | 0.985 |
| 19:38948635:C:A | W131C | 0.984 |
| 19:38948635:C:G | W131C | 0.984 |
| 19:38942701:A:C | F248L | 0.983 |
| 19:38942701:A:T | F248L | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000059468 (19:38944728 G>T), RS1000092632 (19:38976627 C>T), RS1000190912 (19:38962540 C>T), RS1000288286 (19:38969198 C>T), RS1000439472 (19:38976694 A>G,T), RS1000445260 (19:38968960 G>T), RS1000640327 (19:38963714 A>C,T), RS1000671040 (19:38971106 A>C), RS1000816801 (19:38944524 A>G), RS1000894652 (19:38944289 T>C), RS1000932020 (19:38963879 G>A), RS1001097162 (19:38956851 C>A,T), RS1001127223 (19:38951029 A>G), RS1001145599 (19:38945156 G>A), RS1001229396 (19:38952136 TG>T)
Disease associations
OMIM: gene MIM:609094 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012256_17 | SAPHO syndrome | 2.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation, increases methylation | 3 |
| Valproic Acid | affects expression, decreases expression | 3 |
| sodium arsenite | affects methylation, decreases expression | 2 |
| bisphenol A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Doxorubicin | increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Phenylmercuric Acetate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Selenium | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): SAPHO syndrome