FBXL16
geneOn this page
Also known as MGC33974Fbl16
Summary
FBXL16 (F-box and leucine rich repeat protein 16, HGNC:14150) is a protein-coding gene on chromosome 16p13.3, encoding F-box/LRR-repeat protein 16 (Q8N461). Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).
Source: NCBI Gene 146330 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_153350
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14150 |
| Approved symbol | FBXL16 |
| Name | F-box and leucine rich repeat protein 16 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33974, Fbl16 |
| Ensembl gene | ENSG00000127585 |
| Ensembl biotype | protein_coding |
| OMIM | 609082 |
| Entrez | 146330 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000397621, ENST00000562563, ENST00000562585, ENST00000562648, ENST00000926353, ENST00000926354
RefSeq mRNA: 1 — MANE Select: NM_153350
NM_153350
CCDS: CCDS10421
Canonical transcript exons
ENST00000397621 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000873939 | 695415 | 695923 |
| ENSE00001227237 | 696773 | 697419 |
| ENSE00001529427 | 705512 | 705801 |
| ENSE00003530942 | 692500 | 694423 |
| ENSE00003541344 | 694992 | 695076 |
| ENSE00003678142 | 694634 | 694697 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 99.79.
FANTOM5 (CAGE): breadth broad, TPM avg 13.5949 / max 984.9750, expressed in 652 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155769 | 11.7487 | 347 |
| 155766 | 0.5431 | 230 |
| 155767 | 0.4083 | 137 |
| 155762 | 0.3474 | 194 |
| 155763 | 0.2876 | 103 |
| 155764 | 0.1673 | 77 |
| 155765 | 0.0714 | 38 |
| 155768 | 0.0211 | 10 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 46 | UBERON:0006483 | 99.79 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.73 | gold quality |
| parietal lobe | UBERON:0001872 | 99.71 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.71 | gold quality |
| endothelial cell | CL:0000115 | 99.66 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.65 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.55 | gold quality |
| temporal lobe | UBERON:0001871 | 99.42 | gold quality |
| putamen | UBERON:0001874 | 99.42 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.42 | gold quality |
| caudate nucleus | UBERON:0001873 | 99.32 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.32 | gold quality |
| amygdala | UBERON:0001876 | 99.27 | gold quality |
| occipital lobe | UBERON:0002021 | 99.27 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.27 | gold quality |
| nucleus accumbens | UBERON:0001882 | 99.25 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 99.19 | gold quality |
| frontal cortex | UBERON:0001870 | 99.18 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.18 | gold quality |
| Ammon’s horn | UBERON:0001954 | 99.14 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.13 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.00 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.99 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.93 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.81 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.75 | gold quality |
| neocortex | UBERON:0001950 | 98.68 | gold quality |
| pons | UBERON:0000988 | 98.62 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.86 | gold quality |
| forebrain | UBERON:0001890 | 97.82 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.34 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
123 targeting FBXL16, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
Literature-anchored findings (GeneRIF, showing 6)
- the expression of FBXL16 reproducibly upregulated in p16INK4A and p14ARF knockdown HeLa cells (PMID:20043084)
- The F-box protein FBXL16 up-regulates the stability of C-MYC oncoprotein by antagonizing the activity of the F-box protein FBW7. (PMID:32345600)
- FBXL16 modulates the proliferation and autophagy in breast cancer cells via activating SRC-3-AKT signaling pathway. (PMID:34333223)
- Suppression of breast cancer progression by FBXL16 via oxygen-independent regulation of HIF1alpha stability. (PMID:34818544)
- FBXL16 Promotes Endometrial Progesterone Resistance via PP2A(B55alpha) /Cyclin D1 Axis in Ishikawa. (PMID:36106050)
- MiR-1307-5p enhances fibroblast transdifferentiation to exacerbate chronic obstructive pulmonary disease through regulating FBXL16/HIF1alpha axis. (PMID:39420370)
Cross-species orthologs
19 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbxl16 | ENSDARG00000060915 |
| mus_musculus | Fbxl16 | ENSMUSG00000025738 |
| rattus_norvegicus | Fbxl16 | ENSRNOG00000022248 |
| drosophila_melanogaster | CG32085 | FBGN0052085 |
| caenorhabditis_elegans | WBGENE00008177 | |
| caenorhabditis_elegans | WBGENE00009689 | |
| caenorhabditis_elegans | gadr-6 | WBGENE00009823 |
| caenorhabditis_elegans | WBGENE00010365 | |
| caenorhabditis_elegans | K05C4.9 | WBGENE00010585 |
| caenorhabditis_elegans | WBGENE00012655 | |
| caenorhabditis_elegans | WBGENE00018561 | |
| caenorhabditis_elegans | WBGENE00018613 | |
| caenorhabditis_elegans | WBGENE00018766 | |
| caenorhabditis_elegans | WBGENE00019239 | |
| caenorhabditis_elegans | WBGENE00021053 | |
| caenorhabditis_elegans | WBGENE00021180 | |
| caenorhabditis_elegans | zeel-1 | WBGENE00021463 |
| caenorhabditis_elegans | WBGENE00044459 | |
| caenorhabditis_elegans | gadr-5 | WBGENE00045058 |
Paralogs (15): FBXL3 (ENSG00000005812), FBXL19 (ENSG00000099364), FBXL15 (ENSG00000107872), FBXL20 (ENSG00000108306), FBXL4 (ENSG00000112234), FBXL5 (ENSG00000118564), SKP2 (ENSG00000145604), FBXL17 (ENSG00000145743), FBXL2 (ENSG00000153558), FBXL18 (ENSG00000155034), FBXL13 (ENSG00000161040), FBXL14 (ENSG00000171823), FBXL6 (ENSG00000182325), FBXL7 (ENSG00000183580), FBXL22 (ENSG00000197361)
Protein
Protein identifiers
F-box/LRR-repeat protein 16 — Q8N461 (reviewed: Q8N461)
Alternative names: F-box and leucine-rich repeat protein 16
All UniProt accessions (1): Q8N461
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
Subunit / interactions. Interacts with SKP1 and CUL1.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N461-1 | 1 | yes |
| Q8N461-2 | 2 |
RefSeq proteins (1): NP_699181* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006553 | Leu-rich_rpt_Cys-con_subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036047 | F-box-like_dom_sf | Homologous_superfamily |
| IPR050648 | F-box_LRR-repeat | Family |
| IPR057207 | FBXL15_LRR | Domain |
Pfam: PF25372
UniProt features (14 total): repeat 7, chain 1, domain 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N461-F1 | 84.53 | 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.
Post-translational modifications (1): 92
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):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, KOINUMA_COLON_CANCER_MSI_UP, AAGCCAT_MIR135A_MIR135B, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GGGTGGRR_PAX4_03, GOBP_SCF_DEPENDENT_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, ATAACCT_MIR154, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, SENESE_HDAC3_TARGETS_DN, GOCC_SCF_UBIQUITIN_LIGASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS
GO Biological Process (1): SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005), cytoplasm (GO:0005737)
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 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1404 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXL16 | SKP1 | P34991 | 813 |
| FBXL16 | CUL1 | Q13616 | 703 |
| FBXL16 | FBXO16 | Q8IX29 | 593 |
| FBXL16 | FBXL6 | Q8N531 | 532 |
| FBXL16 | CEP97 | Q8IW35 | 471 |
| FBXL16 | CETN2 | P41208 | 453 |
| FBXL16 | FBXL8 | Q96CD0 | 448 |
| FBXL16 | CEP164 | Q9UPV0 | 445 |
| FBXL16 | NEU4 | Q8WWR8 | 433 |
| FBXL16 | AP2A2 | O94973 | 421 |
| FBXL16 | RUNDC3A | Q59EK9 | 416 |
| FBXL16 | NGEF | Q8N5V2 | 410 |
| FBXL16 | PROSER2 | Q86WR7 | 407 |
| FBXL16 | KDM4B | O94953 | 396 |
| FBXL16 | FAM199X | Q6PEV8 | 396 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R2B | MYO9A | psi-mi:“MI:0914”(association) | 0.640 |
| FBXL16 | HIF1A | psi-mi:“MI:0915”(physical association) | 0.620 |
| FBXL16 | HIF1A | psi-mi:“MI:2364”(proximity) | 0.620 |
| FBXL16 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| Lats2 | MPDZ | psi-mi:“MI:0914”(association) | 0.420 |
| FBXL16 | MAPK6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ppp2r1a | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| MARK2 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| Skp1 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R1A | INTS2 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2A | RBM7 | psi-mi:“MI:0914”(association) | 0.350 |
| Ppp2r2d | KLF4 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2CA | ENSA | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2CB | ENSA | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | BHLHE40 | psi-mi:“MI:0914”(association) | 0.350 |
| COMTD1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL16 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | RNASET2 | psi-mi:“MI:0914”(association) | 0.350 |
| IGFBP5 | RPP40 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL16 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL16 | STK25 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R1A | psi-mi:“MI:0914”(association) | 0.350 | |
| DSCR9 | FBXL16 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (42): FBXL16 (Affinity Capture-MS), FBXL16 (Affinity Capture-MS), FBXL16 (Affinity Capture-MS), FBXL16 (Affinity Capture-MS), FBXL16 (Affinity Capture-MS), FBXL16 (Affinity Capture-MS), FBXL16 (Affinity Capture-MS), FBXL16 (Affinity Capture-MS), DAAM1 (Affinity Capture-MS), UBB (Affinity Capture-MS), FBXL18 (Affinity Capture-MS), SKP1 (Affinity Capture-Western), SKP1 (Affinity Capture-Western), MYC (Affinity Capture-Western), HSPA8 (Affinity Capture-MS)
ESM2 similar proteins: A1A5X2, A2RT62, A6H639, A8Y3R9, B3FL73, D3Z902, D3ZXS4, G5EDB9, O49286, P34284, P87053, Q09299, Q0P4D1, Q0VD31, Q17R01, Q19857, Q32PG9, Q4R642, Q570C0, Q5BJ29, Q5JU00, Q5MJ12, Q65XV2, Q8BFZ4, Q8BH70, Q8BID8, Q8BVU0, Q8C4V4, Q8CDU4, Q8CFJ9, Q8J2J3, Q8LB33, Q8N1E6, Q8N461, Q8W104, Q96S15, Q9EPX5, Q9LPL4, Q9LW29, Q9NXK8
Diamond homologs: A2RT62, Q5MJ12, Q8N461
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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 |
|---|---|---|---|
| Cyclin A/B1/B2 associated events during G2/M transition | 5 | 70.2× | 1e-06 |
| Cyclin D associated events in G1 | 6 | 63.6× | 1e-07 |
| Degradation of beta-catenin by the destruction complex | 5 | 39.3× | 1e-05 |
| Separation of Sister Chromatids | 5 | 13.8× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular signal transduction | 7 | 9.2× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
869 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:694628:TCTCA:T | donor_loss | 1.0000 |
| 16:694629:CTCA:C | donor_loss | 1.0000 |
| 16:694630:TCA:T | donor_loss | 1.0000 |
| 16:694631:CAC:C | donor_loss | 1.0000 |
| 16:694696:ACC:A | acceptor_loss | 1.0000 |
| 16:694697:CCTGT:C | acceptor_loss | 1.0000 |
| 16:694698:C:A | acceptor_loss | 1.0000 |
| 16:694699:T:A | acceptor_loss | 1.0000 |
| 16:695410:CGCA:C | donor_loss | 1.0000 |
| 16:695411:GCAC:G | donor_loss | 1.0000 |
| 16:695412:CACC:C | donor_loss | 1.0000 |
| 16:695413:ACCT:A | donor_loss | 1.0000 |
| 16:695414:C:CG | donor_loss | 1.0000 |
| 16:694420:CAGC:C | acceptor_gain | 0.9900 |
| 16:694424:C:CC | acceptor_gain | 0.9900 |
| 16:694424:CTGCG:C | acceptor_loss | 0.9900 |
| 16:694695:CAC:C | acceptor_gain | 0.9900 |
| 16:694698:C:CC | acceptor_gain | 0.9900 |
| 16:694703:G:T | acceptor_gain | 0.9900 |
| 16:695409:GCGCA:G | donor_loss | 0.9900 |
| 16:695413:A:AC | donor_gain | 0.9900 |
| 16:695414:C:CC | donor_gain | 0.9900 |
| 16:695414:CCTGT:C | donor_gain | 0.9900 |
| 16:696768:CACA:C | donor_loss | 0.9900 |
| 16:696769:ACACC:A | donor_loss | 0.9900 |
| 16:696771:ACCT:A | donor_loss | 0.9900 |
| 16:696772:CCTCG:C | donor_loss | 0.9900 |
| 16:696786:T:TA | donor_gain | 0.9900 |
| 16:697416:CGCT:C | acceptor_gain | 0.9900 |
| 16:697418:CT:C | acceptor_gain | 0.9900 |
AlphaMissense
3063 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:694354:A:G | L454P | 1.000 |
| 16:694360:A:G | L452P | 1.000 |
| 16:694423:C:T | G431D | 1.000 |
| 16:695001:C:A | W406C | 1.000 |
| 16:695001:C:G | W406C | 1.000 |
| 16:695003:A:G | W406R | 1.000 |
| 16:695003:A:T | W406R | 1.000 |
| 16:695053:C:T | G389D | 1.000 |
| 16:695054:C:G | G389R | 1.000 |
| 16:695059:T:A | D387V | 1.000 |
| 16:695073:A:C | C382W | 1.000 |
| 16:695074:C:T | C382Y | 1.000 |
| 16:695075:A:G | C382R | 1.000 |
| 16:695415:C:A | R381M | 1.000 |
| 16:695415:C:G | R381T | 1.000 |
| 16:695418:T:A | D380V | 1.000 |
| 16:695421:A:T | L379H | 1.000 |
| 16:695427:A:G | L377P | 1.000 |
| 16:695427:A:T | L377H | 1.000 |
| 16:695475:T:A | D361V | 1.000 |
| 16:695476:C:A | D361Y | 1.000 |
| 16:695476:C:G | D361H | 1.000 |
| 16:695478:G:A | T360I | 1.000 |
| 16:695489:G:C | C356W | 1.000 |
| 16:695491:A:G | C356R | 1.000 |
| 16:695494:A:G | W355R | 1.000 |
| 16:695494:A:T | W355R | 1.000 |
| 16:695499:A:C | L353R | 1.000 |
| 16:695499:A:G | L353P | 1.000 |
| 16:695499:A:T | L353H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000003040 (16:693954 G>A), RS1000175819 (16:702879 G>A), RS1000480062 (16:697918 T>A,G), RS1000607163 (16:692806 C>A,T), RS1000610108 (16:702682 G>A,C), RS1000827165 (16:695354 G>A,C,T), RS1001041321 (16:692495 A>G), RS1001061565 (16:700701 C>A), RS1001358685 (16:692934 A>T), RS1001405810 (16:700449 C>A,T), RS1001483948 (16:697691 GT>G,GTT), RS1001720914 (16:702812 G>A,C), RS1001821864 (16:702358 T>C), RS1002010215 (16:701601 C>G,T), RS1002097573 (16:692159 G>A)
Disease associations
OMIM: gene MIM:609082 | 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 |
|---|---|---|
| GCST007327_175 | Smoking status (ever vs never smokers) | 7.000000e-13 |
| GCST012226_124 | Waist circumference adjusted for body mass index | 3.000000e-08 |
| GCST012226_126 | Waist circumference adjusted for body mass index | 4.000000e-08 |
| GCST012597_2 | Attention deficit hyperactivity disorder | 2.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004318 | smoking behavior |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 8 |
| trichostatin A | increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | increases methylation, affects methylation, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| bisphenol A | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| pentanal | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, 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 | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Calcitriol | increases expression | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Dihydrotestosterone | decreases expression | 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): attention deficit-hyperactivity disorder