FBXO6
gene geneOn this page
Also known as FBX6FBG2FBS2Fbx6b
Summary
FBXO6 (F-box protein 6, HGNC:13585) is a protein-coding gene on chromosome 1p36.22, encoding F-box only protein 6 (Q9NRD1). Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complexes.
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, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle.
Source: NCBI Gene 26270 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_018438
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13585 |
| Approved symbol | FBXO6 |
| Name | F-box protein 6 |
| Location | 1p36.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FBX6, FBG2, FBS2, Fbx6b |
| Ensembl gene | ENSG00000116663 |
| Ensembl biotype | protein_coding |
| OMIM | 605647 |
| Entrez | 26270 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron
ENST00000376753, ENST00000449067, ENST00000474239, ENST00000907480, ENST00000907481, ENST00000907482, ENST00000907483, ENST00000907484, ENST00000938498, ENST00000961666, ENST00000961667
RefSeq mRNA: 1 — MANE Select: NM_018438
NM_018438
CCDS: CCDS133
Canonical transcript exons
ENST00000376753 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000818922 | 11671928 | 11672023 |
| ENSE00000818923 | 11673277 | 11673412 |
| ENSE00001816039 | 11664200 | 11664255 |
| ENSE00001958879 | 11673615 | 11674354 |
| ENSE00003525177 | 11668656 | 11668944 |
| ENSE00003678106 | 11671266 | 11671392 |
Expression profiles
Bgee: expression breadth ubiquitous, 210 present calls, max score 92.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5803 / max 115.5012, expressed in 1636 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 628 | 5.8035 | 1561 |
| 627 | 1.3907 | 448 |
| 626 | 0.8391 | 236 |
| 629 | 0.5469 | 280 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 92.25 | gold quality |
| leukocyte | CL:0000738 | 88.96 | gold quality |
| monocyte | CL:0000576 | 88.95 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.55 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.85 | gold quality |
| bronchial epithelial cell | CL:0002328 | 85.21 | gold quality |
| muscle of leg | UBERON:0001383 | 85.16 | gold quality |
| blood | UBERON:0000178 | 83.87 | gold quality |
| right lobe of liver | UBERON:0001114 | 83.77 | gold quality |
| bronchus | UBERON:0002185 | 83.39 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 82.81 | gold quality |
| ileal mucosa | UBERON:0000331 | 82.58 | gold quality |
| right adrenal gland | UBERON:0001233 | 82.54 | gold quality |
| right uterine tube | UBERON:0001302 | 82.46 | gold quality |
| apex of heart | UBERON:0002098 | 82.28 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 82.26 | gold quality |
| pancreatic ductal cell | CL:0002079 | 82.06 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.87 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.83 | gold quality |
| body of pancreas | UBERON:0001150 | 81.76 | gold quality |
| lower esophagus | UBERON:0013473 | 81.47 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 81.45 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 81.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 81.21 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.04 | gold quality |
| duodenum | UBERON:0002114 | 81.02 | gold quality |
| spleen | UBERON:0002106 | 80.74 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 80.55 | gold quality |
| cortical plate | UBERON:0005343 | 80.41 | gold quality |
| body of stomach | UBERON:0001161 | 80.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting FBXO6, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-133A-5P | 99.28 | 69.13 | 941 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-4724-5P | 98.87 | 67.75 | 1324 |
| HSA-MIR-4501 | 98.72 | 67.19 | 921 |
| HSA-MIR-6747-3P | 97.73 | 64.84 | 1596 |
| HSA-MIR-6807-5P | 97.51 | 64.25 | 1046 |
| HSA-MIR-6879-3P | 93.93 | 64.00 | 759 |
Literature-anchored findings (GeneRIF, showing 12)
- Fbs2 is a novel member of F-box protein family that recognizes N-glycans and plays a role in ERAD (PMID:12939278)
- Fbx6-dependent Chk1 degradation contributes to S phase checkpoint termination and that a defect in this mechanism might increase tumor cell resistance to certain anticancer drugs. (PMID:19716789)
- systematical identification of the FBXO6-interacting glycoproteins, critical for clarifying its substrates as well as biological functions. (PMID:22268729)
- Two interacting proteins of human FBXO6 protein have been found using the service in the study. (PMID:22292078)
- It might inhibit cadmium-induced ER stress by functioning as a ubiquitin ligase in the ERAD system, thereby attenuating the cell death induced by subsequent JNK1 activation. (PMID:25374377)
- FBXO6 as a functional E3 ubiquitin ligase for Ero1L that plays a critical role in inhibiting endoplasmic reticulum stress-induced apoptosis. (PMID:27855403)
- Fbxo6 is a novel regulator of mitosis by controlling chromosome separation via interacting with the spindle checkpoint proteins Mad2 and BubR1. (PMID:30526252)
- Fbxo6 confers drug-sensitization to cisplatin via inhibiting the activation of Chk1 in non-small cell lung cancer (PMID:31140586)
- our studies have identified a general but, to our knowledge, previously unrecognized role and a novel noncanonical mechanism of FBXO6 in modulating IFN-I-mediated antiviral immune responses (PMID:31308089)
- FBXO6-mediated RNASET2 ubiquitination and degradation governs the development of ovarian cancer. (PMID:33767133)
- The USP18-FBXO6 axis maintains the malignancy of ovarian cancer. (PMID:35063764)
- Structural basis of sugar recognition by SCF[FBS2] ubiquitin ligase involved in NGLY1 deficiency. (PMID:39171510)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Fbxo6 | ENSMUSG00000055401 |
| rattus_norvegicus | Fbxo6 | ENSRNOG00000009217 |
Paralogs (5): FBXO2 (ENSG00000116661), FBXO44 (ENSG00000132879), FBXO27 (ENSG00000161243), NCCRP1 (ENSG00000188505), FBXO17 (ENSG00000269190)
Protein
Protein identifiers
F-box only protein 6 — Q9NRD1 (reviewed: Q9NRD1)
Alternative names: F-box protein that recognizes sugar chains 2, F-box/G-domain protein 2
All UniProt accessions (2): Q9NRD1, J3KQ72
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins, which are modified with not only high-mannose but also complex-type oligosaccharides. Also recognizes sulfated glycans. Also involved in DNA damage response by specifically recognizing activated CHEK1 (phosphorylated on ‘Ser-345’), promoting its ubiquitination and degradation. Ubiquitination of CHEK1 is required to ensure that activated CHEK1 does not accumulate as cells progress through S phase, or when replication forks encounter transient impediments during normal DNA replication.
Subunit / interactions. Interacts with VCP. Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with CHEK1 and CUL1.
Subcellular location. Cytoplasm.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (1): NP_060908* (*=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 (21 total): sequence conflict 11, domain 2, modified residue 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NRD1-F1 | 88.67 | 0.82 |
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 (2): 258, 284
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 241–242 | abolishes interaction with glycosylated concanavalin-a in vitro. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-390471 | Association of TriC/CCT with target proteins during biosynthesis |
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 178 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, 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_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, BEIER_GLIOMA_STEM_CELL_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE
GO Biological Process (10): DNA damage checkpoint signaling (GO:0000077), DNA repair (GO:0006281), proteolysis (GO:0006508), glycoprotein catabolic process (GO:0006516), response to unfolded protein (GO:0006986), protein ubiquitination (GO:0016567), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), ERAD pathway (GO:0036503), ubiquitin-dependent protein catabolic process (GO:0006511), DNA damage response (GO:0006974)
GO Molecular Function (3): carbohydrate binding (GO:0030246), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005), endoplasmic reticulum quality control compartment (GO:0044322)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Chaperonin-mediated protein folding | 1 |
| 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 | 3 |
| binding | 2 |
| DNA integrity checkpoint signaling | 1 |
| signal transduction in response to DNA damage | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| protein metabolic process | 1 |
| glycoprotein metabolic process | 1 |
| protein catabolic process | 1 |
| carbohydrate derivative catabolic process | 1 |
| response to topologically incorrect protein | 1 |
| protein modification by small protein conjugation | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| response to endoplasmic reticulum stress | 1 |
| response to chemical | 1 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| cellular response to stress | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| endoplasmic reticulum | 1 |
Protein interactions and networks
STRING
964 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXO6 | SKP1 | P34991 | 880 |
| FBXO6 | CUL1 | Q13616 | 845 |
| FBXO6 | BTRC | Q9Y297 | 842 |
| FBXO6 | MAD2L2 | Q9UI95 | 687 |
| FBXO6 | CCNF | P41002 | 677 |
| FBXO6 | PRKN | O60260 | 670 |
| FBXO6 | FOXI1 | Q12951 | 666 |
| FBXO6 | SKP2 | Q13309 | 636 |
| FBXO6 | FBXO2 | Q9UK22 | 627 |
| FBXO6 | SLC35F6 | Q8N357 | 624 |
| FBXO6 | CHEK1 | O14757 | 622 |
| FBXO6 | DDB1 | Q16531 | 618 |
| FBXO6 | UBQLN4 | Q9NRR5 | 600 |
| FBXO6 | OTUD4 | Q01804 | 591 |
| FBXO6 | SLC26A4 | O43511 | 548 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EMC2 | EMC8 | psi-mi:“MI:0914”(association) | 0.940 |
| SKP1 | FBXO6 | psi-mi:“MI:0915”(physical association) | 0.840 |
| FBXO6 | CUL1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| EMC7 | EMC8 | psi-mi:“MI:0914”(association) | 0.790 |
| MORF4L1 | SIN3B | psi-mi:“MI:0914”(association) | 0.730 |
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| POGLUT1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3BP | FBXO6 | psi-mi:“MI:0915”(physical association) | 0.500 |
| HSP90AB1 | FBXO6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ORC4 | FBXO6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBXO6 | GNS | psi-mi:“MI:0914”(association) | 0.350 |
| NBAS | psi-mi:“MI:0914”(association) | 0.350 | |
| NTRK3 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | RNASET2 | psi-mi:“MI:0914”(association) | 0.350 |
| SEC11A | MIA3 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS7B | CPSF4 | psi-mi:“MI:0914”(association) | 0.350 |
| UXS1 | HRAS | psi-mi:“MI:0914”(association) | 0.350 |
| EPDR1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXO6 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD6 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A14 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| SLC3A1 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SLC44A2 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| SLC4A5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| env | PLSCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | NDC80 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (996): UBB (Affinity Capture-MS), COPS2 (Affinity Capture-MS), TOR1B (Affinity Capture-MS), H6PD (Affinity Capture-MS), PRCP (Affinity Capture-MS), POGLUT1 (Affinity Capture-MS), GRN (Affinity Capture-MS), ERO1LB (Affinity Capture-MS), KDELC2 (Affinity Capture-MS), CUL1 (Affinity Capture-MS), POFUT1 (Affinity Capture-MS), NAGLU (Affinity Capture-MS), COPS6 (Affinity Capture-MS), MAN2B1 (Affinity Capture-MS), SGSH (Affinity Capture-MS)
ESM2 similar proteins: A1A5G2, B3DLA6, E1BGQ2, E3SCZ8, O15392, O70201, O88597, O95453, P23727, P26450, P27986, P42694, P61798, P69341, Q13572, Q14457, Q4A1L4, Q4A1L5, Q5F407, Q5F480, Q5M939, Q5R685, Q5R878, Q5RAH9, Q5RC51, Q5ZIA0, Q5ZKS6, Q63787, Q6DC64, Q6DDJ3, Q6DFV5, Q6DJB3, Q6GP52, Q6GR37, Q6I6F4, Q6J1J1, Q6NRC7, Q6NYU2, Q7T0P6, Q80YV4
Diamond homologs: G3X9C2, Q17QK6, Q3SX24, Q568V3, Q6AY27, Q6DIA9, Q6ZVX7, Q80UW2, Q8NI29, Q923V4, Q96EF6, Q9H4M3, Q9N0C8, Q9NRD1, Q9QZM8, Q9UK22, Q8BK26, Q9QZN4
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FBXO6 | “down-regulates quantity by destabilization” | CHEK1 | binding |
| FBXO6 | “up-regulates activity” | “Cullin 1-RBX1-Skp1” | binding |
| FBXO6 | “down-regulates quantity by destabilization” | ERO1A | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1048 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:11668651:CACAG:C | acceptor_loss | 1.0000 |
| 1:11668653:CA:C | acceptor_loss | 1.0000 |
| 1:11668654:A:AG | acceptor_gain | 1.0000 |
| 1:11668654:A:C | acceptor_loss | 1.0000 |
| 1:11668654:AG:A | acceptor_gain | 1.0000 |
| 1:11668655:G:A | acceptor_loss | 1.0000 |
| 1:11668655:G:GG | acceptor_gain | 1.0000 |
| 1:11668655:GG:G | acceptor_gain | 1.0000 |
| 1:11668655:GGCC:G | acceptor_gain | 1.0000 |
| 1:11668655:GGCCA:G | acceptor_gain | 1.0000 |
| 1:11668857:G:GT | donor_gain | 1.0000 |
| 1:11668916:G:GT | donor_gain | 1.0000 |
| 1:11671369:G:GT | donor_gain | 1.0000 |
| 1:11671391:GA:G | donor_gain | 1.0000 |
| 1:11671393:G:GG | donor_gain | 1.0000 |
| 1:11671926:A:AG | acceptor_gain | 1.0000 |
| 1:11671926:AGAAT:A | acceptor_gain | 1.0000 |
| 1:11671927:G:GA | acceptor_gain | 1.0000 |
| 1:11671927:GA:G | acceptor_gain | 1.0000 |
| 1:11671927:GAAT:G | acceptor_gain | 1.0000 |
| 1:11671927:GAATG:G | acceptor_gain | 1.0000 |
| 1:11672019:GACTG:G | donor_gain | 1.0000 |
| 1:11672022:TGGT:T | donor_loss | 1.0000 |
| 1:11672023:GGT:G | donor_loss | 1.0000 |
| 1:11672024:G:GC | donor_loss | 1.0000 |
| 1:11672025:T:G | donor_loss | 1.0000 |
| 1:11673272:A:AG | acceptor_gain | 1.0000 |
| 1:11673273:C:G | acceptor_gain | 1.0000 |
| 1:11673273:CCAGG:C | acceptor_loss | 1.0000 |
| 1:11673274:CAGGT:C | acceptor_loss | 1.0000 |
AlphaMissense
1926 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:11673726:A:C | S253R | 0.994 |
| 1:11673728:C:A | S253R | 0.994 |
| 1:11673728:C:G | S253R | 0.994 |
| 1:11671310:T:A | W111R | 0.992 |
| 1:11671310:T:C | W111R | 0.992 |
| 1:11673404:T:A | W213R | 0.992 |
| 1:11673404:T:C | W213R | 0.992 |
| 1:11671940:G:C | K142N | 0.991 |
| 1:11671940:G:T | K142N | 0.991 |
| 1:11671280:T:A | W101R | 0.987 |
| 1:11671280:T:C | W101R | 0.987 |
| 1:11672019:G:C | D169H | 0.987 |
| 1:11673664:T:C | F232S | 0.987 |
| 1:11668788:T:A | W44R | 0.986 |
| 1:11668788:T:C | W44R | 0.986 |
| 1:11671312:G:C | W111C | 0.986 |
| 1:11671312:G:T | W111C | 0.986 |
| 1:11668818:T:A | W54R | 0.985 |
| 1:11668818:T:C | W54R | 0.985 |
| 1:11673406:G:C | W213C | 0.985 |
| 1:11673406:G:T | W213C | 0.985 |
| 1:11673708:G:T | G247W | 0.985 |
| 1:11671376:T:C | F133L | 0.984 |
| 1:11671378:T:A | F133L | 0.984 |
| 1:11671378:T:G | F133L | 0.984 |
| 1:11671941:T:C | S143P | 0.984 |
| 1:11673682:A:T | D238V | 0.984 |
| 1:11668820:G:C | W54C | 0.983 |
| 1:11668820:G:T | W54C | 0.983 |
| 1:11673627:T:C | F220L | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000097533 (1:11663779 C>T), RS1000360701 (1:11673952 G>C), RS1000531437 (1:11664097 A>G), RS1001269221 (1:11663454 TCAC>T), RS1001430674 (1:11668274 A>C), RS1001560158 (1:11665855 G>A), RS1001860568 (1:11668569 G>A), RS1001919310 (1:11672246 A>C,T), RS1002259374 (1:11672110 C>A), RS1002565995 (1:11673190 G>A), RS1002638671 (1:11664307 G>A), RS1002755035 (1:11670682 C>A), RS1002975218 (1:11664072 G>A), RS1003451206 (1:11666261 A>G), RS1003537915 (1:11671514 C>G,T)
Disease associations
OMIM: gene MIM:605647 | 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 |
|---|---|---|
| GCST010654_5 | Arterial stiffness (brachial-femoral pulse wave velocity) | 1.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004517 | arterial stiffness measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 2 |
| Estradiol | affects expression, affects cotreatment, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Aflatoxin B1 | decreases expression, affects expression | 2 |
| Cadmium Chloride | decreases expression, decreases reaction, increases expression, increases phosphorylation, decreases response to substance | 2 |
| FR900359 | increases phosphorylation | 1 |
| lasiocarpine | decreases expression | 1 |
| chlortoluron | decreases expression | 1 |
| 2,2’-methylenebis(4-methyl-6-tert-butylphenol) | affects expression, affects response to substance | 1 |
| beta-lapachone | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| NCS 382 | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, decreases methylation | 1 |
| Cadmium | decreases response to substance | 1 |
| Curcumin | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Tretinoin | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | affects expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases 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_E1X3 | HAP1 FBXO6 (-) | 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.