FBXO9
gene geneOn this page
Also known as FBX9NY-REN-57
Summary
FBXO9 (F-box protein 9, HGNC:13588) is a protein-coding gene on chromosome 6p12.1, encoding F-box only protein 9 (Q9UK97). Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferat….
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 at least 3 transcript variants diverging at the 5’ terminus.
Source: NCBI Gene 26268 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 60 total
- MANE Select transcript:
NM_033480
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13588 |
| Approved symbol | FBXO9 |
| Name | F-box protein 9 |
| Location | 6p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FBX9, NY-REN-57 |
| Ensembl gene | ENSG00000112146 |
| Ensembl biotype | protein_coding |
| OMIM | 609091 |
| Entrez | 26268 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000244426, ENST00000323557, ENST00000370939, ENST00000459845, ENST00000461222, ENST00000468481, ENST00000473318, ENST00000473337, ENST00000474457, ENST00000480463, ENST00000484436, ENST00000484812, ENST00000498744
RefSeq mRNA: 3 — MANE Select: NM_033480
NM_012347, NM_033480, NM_033481
CCDS: CCDS55022, CCDS55023, CCDS55024
Canonical transcript exons
ENST00000323557 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000756521 | 53092734 | 53092824 |
| ENSE00000756524 | 53093466 | 53093561 |
| ENSE00001436570 | 53065404 | 53065792 |
| ENSE00001534301 | 53097722 | 53100873 |
| ENSE00003463492 | 53078799 | 53078898 |
| ENSE00003519430 | 53076486 | 53076543 |
| ENSE00003549381 | 53073481 | 53073639 |
| ENSE00003569493 | 53071057 | 53071143 |
| ENSE00003680521 | 53092429 | 53092547 |
| ENSE00003683436 | 53082504 | 53082618 |
| ENSE00003706677 | 53093885 | 53093978 |
| ENSE00003709797 | 53095513 | 53095664 |
| ENSE00003786194 | 53080968 | 53081098 |
Expression profiles
Bgee: expression breadth ubiquitous, 301 present calls, max score 99.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.5270 / max 822.0264, expressed in 1824 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 68248 | 42.2749 | 1823 |
| 68249 | 2.3910 | 1341 |
| 68250 | 0.6744 | 357 |
| 68247 | 0.1867 | 69 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.29 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.18 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.12 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.92 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.87 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.86 | gold quality |
| secondary oocyte | CL:0000655 | 98.85 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.83 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.81 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.81 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.76 | gold quality |
| tibia | UBERON:0000979 | 98.66 | gold quality |
| parotid gland | UBERON:0001831 | 98.66 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 98.63 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.45 | gold quality |
| adrenal gland | UBERON:0002369 | 98.42 | gold quality |
| pons | UBERON:0000988 | 98.35 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.28 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.17 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.06 | gold quality |
| visceral pleura | UBERON:0002401 | 97.97 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.96 | gold quality |
| parietal pleura | UBERON:0002400 | 97.90 | gold quality |
| pleura | UBERON:0000977 | 97.88 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.87 | gold quality |
| body of pancreas | UBERON:0001150 | 97.86 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 97.84 | gold quality |
| nephron tubule | UBERON:0001231 | 97.83 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.78 | gold quality |
| occipital lobe | UBERON:0002021 | 97.78 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 23.62 |
| E-MTAB-9221 | yes | 13.02 |
| E-MTAB-6678 | no | 4.06 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
122 targeting FBXO9, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
Literature-anchored findings (GeneRIF, showing 2)
- ICK and FBX9 are divergently transcribed from a bidirectional promoter that is GC-rich and contains a CpG island. (PMID:20459822)
- F-box only protein 9 and its role in cancer. (PMID:35025031)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbxo9 | ENSDARG00000011055 |
| mus_musculus | Fbxo9 | ENSMUSG00000001366 |
| rattus_norvegicus | Fbxo9 | ENSRNOG00000008214 |
| drosophila_melanogaster | CG5961 | FBGN0038056 |
Protein
Protein identifiers
F-box only protein 9 — Q9UK97 (reviewed: Q9UK97)
Alternative names: Cross-immune reaction antigen 1, Renal carcinoma antigen NY-REN-57
All UniProt accessions (6): Q9UK97, C9IY65, C9J4V1, C9JDZ9, H7C4H6, V9GZ74
UniProt curated annotations — full annotation on UniProt →
Function. Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferation, or maintenance of chromosome stability. Ubiquitinates mTORC1-bound TTI1 and TELO2 when they are phosphorylated by CK2 following growth factor deprivation, leading to their degradation. In contrast, does not mediate ubiquitination of TTI1 and TELO2 when they are part of the mTORC2 complex. As a consequence, mTORC1 is inactivated to restrain cell growth and protein translation, while mTORC2 is the activated due to the relief of feedback inhibition by mTORC1. Plays a role in maintaining epithelial cell survival by regulating the turn-over of chromatin modulator PRMT4 through ubiquitination and degradation by the proteasomal pathway. Regulates also PPARgamma stability by facilitating PPARgamma/PPARG ubiquitination and thereby plays a role in adipocyte differentiation.
Subunit / interactions. Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO9) composed of CUL1, SKP1, RBX1 and FBXO9. Interacts with TTI1 and TELO2; when TTI1 and TELO2 are phosphorylated by CK2.
Subcellular location. Cytoplasm.
Pathway. Protein modification; protein ubiquitination.
Miscellaneous. Overexpressed in multiple myeloma leading to constitutive activation of the PI(3)K/mTORC2/Akt pathway to promote survival.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UK97-1 | 1 | yes |
| Q9UK97-2 | 2 | |
| Q9UK97-3 | 3 |
RefSeq proteins (3): NP_036479, NP_258441, NP_258442 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001810 | F-box_dom | Domain |
| IPR036047 | F-box-like_dom_sf | Homologous_superfamily |
| IPR036181 | MIT_dom_sf | Homologous_superfamily |
| IPR045464 | Hrt3/FBXO9_C | Domain |
Pfam: PF12937, PF19270
UniProt features (8 total): splice variant 2, chain 1, repeat 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UK97-F1 | 78.07 | 0.44 |
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): 136
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: 196 (showing top):
E2F_Q4_01, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCGCANK_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, MORF_HDAC1, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GGCNKCCATNK_UNKNOWN, BILD_HRAS_ONCOGENIC_SIGNATURE, chr6p12, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, YY1_02, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_CTBP1
GO Biological Process (9): protein ubiquitination (GO:0016567), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), regulation of TOR signaling (GO:0032006), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), innate immune response (GO:0045087), fat cell differentiation (GO:0045444), protein K48-linked ubiquitination (GO:0070936), apoptotic process (GO:0006915), positive regulation of epithelial cell apoptotic process (GO:1904037)
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 (4): ubiquitin ligase complex (GO:0000151), 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 |
| protein modification by small protein conjugation | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| TOR signaling | 1 |
| regulation of intracellular signal transduction | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| cell differentiation | 1 |
| protein polyubiquitination | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| positive regulation of apoptotic process | 1 |
| epithelial cell apoptotic process | 1 |
| regulation of epithelial cell apoptotic process | 1 |
| ubiquitin-like protein transferase activity | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
1058 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXO9 | CUL1 | Q13616 | 828 |
| FBXO9 | SKP1 | P34991 | 816 |
| FBXO9 | FBXO4 | Q9UKT5 | 639 |
| FBXO9 | TTI1 | O43156 | 579 |
| FBXO9 | FBXO11 | Q86XK2 | 572 |
| FBXO9 | FBXL3 | Q9UKT7 | 517 |
| FBXO9 | FBXO45 | P0C2W1 | 494 |
| FBXO9 | RSPRY1 | Q96DX4 | 490 |
| FBXO9 | UBE2G1 | P62253 | 479 |
| FBXO9 | FBXW8 | Q8N3Y1 | 477 |
| FBXO9 | CCDC106 | Q9BWC9 | 475 |
| FBXO9 | FBH1 | Q8NFZ0 | 469 |
| FBXO9 | FBXO28 | Q9NVF7 | 468 |
| FBXO9 | TELO2 | Q9Y4R8 | 453 |
| FBXO9 | FBXO10 | Q9UK96 | 449 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXO9 | SKP1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SKP1 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.640 |
| FBXO9 | TELO2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| FBXO9 | TTI1 | psi-mi:“MI:0914”(association) | 0.610 |
| FBXO9 | TTI1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| CUL1 | FBXO21 | psi-mi:“MI:0914”(association) | 0.600 |
| GFOD1 | PER1 | psi-mi:“MI:0914”(association) | 0.530 |
| RICTOR | TTI1 | psi-mi:“MI:0914”(association) | 0.460 |
| RPTOR | TTI1 | psi-mi:“MI:0914”(association) | 0.460 |
| SKP1 | FBXO9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXO9 | EEF2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXO9 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPG11 | FBXO9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXO9 | MTOR | 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 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | BHLHE40 | psi-mi:“MI:0914”(association) | 0.350 |
| RBX1 | OBSL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (36): FBXO9 (Affinity Capture-MS), SKP1 (Affinity Capture-Western), FBXO9 (Affinity Capture-MS), FBXO9 (Affinity Capture-MS), FBXO9 (Affinity Capture-MS), FBXO9 (Affinity Capture-MS), EEF2 (Affinity Capture-MS), FBXO9 (Affinity Capture-MS), FBXO9 (Affinity Capture-MS), FBXO9 (Affinity Capture-Western), SKP1 (Two-hybrid), FBXO9 (Affinity Capture-MS), FBXO9 (Affinity Capture-MS), FBXO9 (Affinity Capture-MS), EEF2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8GLK3, A0A974CYQ5, A2AHJ4, A5WW08, D2HNY3, D2HWM5, E7F6T8, F1ND48, O75717, O88907, O95071, P59328, Q28DL4, Q3TLR7, Q4V837, Q58WW2, Q5E9J6, Q5FWP4, Q5NVC7, Q5R9B8, Q5RF77, Q5RGA4, Q5RHI5, Q5ZLG9, Q62671, Q66JG1, Q6AXK4, Q6DDH2, Q6NVE8, Q6P1W0, Q6P256, Q6PCD5, Q6PJI9, Q6RI45, Q80TP3, Q80U93, Q810L3, Q8C0M0, Q8CBW4, Q8CIK8
Diamond homologs: F6Y9J3, O74531, Q3ZBT2, Q5U2X1, Q6P3K3, Q8BK06, Q9UK97, Q9XI00
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FBXO9 | “down-regulates quantity by destabilization” | TELO2 | binding |
| FBXO9 | “down-regulates quantity by destabilization” | TTI1 | binding |
| FBXO9 | “down-regulates activity” | “Cullin 1-RBX1-Skp1” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 37 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 | 6 | 10.9× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2494 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:53061594:A:AC | donor_gain | 1.0000 |
| 6:53061595:C:CC | donor_gain | 1.0000 |
| 6:53061595:CTGG:C | donor_gain | 1.0000 |
| 6:53065670:C:G | donor_gain | 1.0000 |
| 6:53071055:A:AG | acceptor_gain | 1.0000 |
| 6:53071056:G:GT | acceptor_gain | 1.0000 |
| 6:53071056:GGC:G | acceptor_gain | 1.0000 |
| 6:53071056:GGCA:G | acceptor_gain | 1.0000 |
| 6:53073476:CATA:C | acceptor_loss | 1.0000 |
| 6:53073478:TA:T | acceptor_loss | 1.0000 |
| 6:53073479:A:AG | acceptor_gain | 1.0000 |
| 6:53073479:A:AT | acceptor_loss | 1.0000 |
| 6:53073480:G:GA | acceptor_loss | 1.0000 |
| 6:53073480:G:GG | acceptor_gain | 1.0000 |
| 6:53073480:GGC:G | acceptor_gain | 1.0000 |
| 6:53073480:GGCAC:G | acceptor_gain | 1.0000 |
| 6:53073626:C:T | donor_gain | 1.0000 |
| 6:53073634:GAAAA:G | donor_gain | 1.0000 |
| 6:53073640:T:TG | donor_gain | 1.0000 |
| 6:53073644:G:GG | donor_gain | 1.0000 |
| 6:53076481:TATAG:T | acceptor_loss | 1.0000 |
| 6:53076483:TAGGC:T | acceptor_loss | 1.0000 |
| 6:53078797:A:AG | acceptor_gain | 1.0000 |
| 6:53078798:G:GG | acceptor_gain | 1.0000 |
| 6:53078895:GCTA:G | donor_gain | 1.0000 |
| 6:53078899:G:GG | donor_gain | 1.0000 |
| 6:53080966:A:AG | acceptor_gain | 1.0000 |
| 6:53080967:G:GA | acceptor_gain | 1.0000 |
| 6:53080967:GC:G | acceptor_gain | 1.0000 |
| 6:53080967:GCATT:G | acceptor_gain | 1.0000 |
AlphaMissense
2896 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:53076543:G:C | A113P | 1.000 |
| 6:53078814:G:C | R118P | 1.000 |
| 6:53078819:G:C | A120P | 1.000 |
| 6:53078820:C:A | A120D | 1.000 |
| 6:53095633:T:A | W402R | 1.000 |
| 6:53095633:T:C | W402R | 1.000 |
| 6:53076498:T:C | F98L | 0.999 |
| 6:53076499:T:C | F98S | 0.999 |
| 6:53076500:C:A | F98L | 0.999 |
| 6:53076500:C:G | F98L | 0.999 |
| 6:53076507:G:C | A101P | 0.999 |
| 6:53076508:C:A | A101E | 0.999 |
| 6:53078799:C:A | A113D | 0.999 |
| 6:53078810:T:G | Y117D | 0.999 |
| 6:53078829:T:C | L123P | 0.999 |
| 6:53078841:T:A | I127K | 0.999 |
| 6:53092547:G:C | G268R | 0.999 |
| 6:53092734:G:A | G268D | 0.999 |
| 6:53092763:C:A | R278S | 0.999 |
| 6:53092764:G:C | R278P | 0.999 |
| 6:53092769:G:A | G280R | 0.999 |
| 6:53092769:G:C | G280R | 0.999 |
| 6:53092824:G:T | R298M | 0.999 |
| 6:53093534:T:A | V321D | 0.999 |
| 6:53093904:G:C | G337R | 0.999 |
| 6:53093905:G:A | G337D | 0.999 |
| 6:53095589:T:C | L387P | 0.999 |
| 6:53095628:T:A | L400H | 0.999 |
| 6:53095628:T:C | L400P | 0.999 |
| 6:53095645:T:C | S406P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000044763 (6:53056742 A>G), RS1000073603 (6:53063899 C>T), RS1000095883 (6:53080432 C>A,T), RS1000109191 (6:53087362 A>G), RS1000426908 (6:53080725 C>T), RS1000501944 (6:53083159 T>C), RS1000532624 (6:53083662 T>C), RS1000540836 (6:53075657 T>C), RS1000774213 (6:53090512 CAAAG>C), RS1000774305 (6:53095886 T>C), RS1000833318 (6:53068523 TAA>T), RS1000867745 (6:53089942 A>C,G), RS1000875990 (6:53090256 A>G), RS1001201150 (6:53069081 C>A), RS1001209789 (6:53057282 A>G)
Disease associations
OMIM: gene MIM:609091 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003181_5 | Staphylococcus aureus nasal carriage (intermittent) | 9.000000e-06 |
| GCST90000047_120 | Age at first sexual intercourse | 5.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007758 | intermittent Staphylococcus aureus carrier status |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation, increases expression | 6 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, affects expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | decreases expression, increases methylation | 1 |
| lead acetate | decreases expression | 1 |
| trichostatin A | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, affects expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects expression, affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Panobinostat | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cisplatin | decreases reaction, increases expression | 1 |
| Dinitrochlorobenzene | decreases expression | 1 |
| Ethyl Methanesulfonate | 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.