FBXL15
gene geneOn this page
Also known as MGC11279Fbl15
Summary
FBXL15 (F-box and leucine rich repeat protein 15, HGNC:28155) is a protein-coding gene on chromosome 10q24.32, encoding F-box/LRR-repeat protein 15 (Q9H469). 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 SMURF1, thereby acting as a positive regulator of the BMP signaling pathway.
Involved in several processes, including G2/M transition of mitotic cell cycle; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; and positive regulation of BMP signaling pathway. Located in cytoplasm. Part of SCF ubiquitin ligase complex.
Source: NCBI Gene 79176 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_024326
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28155 |
| Approved symbol | FBXL15 |
| Name | F-box and leucine rich repeat protein 15 |
| Location | 10q24.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC11279, Fbl15 |
| Ensembl gene | ENSG00000107872 |
| Ensembl biotype | protein_coding |
| OMIM | 610287 |
| Entrez | 79176 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 14 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000369956, ENST00000425536, ENST00000432590, ENST00000440407, ENST00000457067, ENST00000481808, ENST00000864349, ENST00000864350, ENST00000933208, ENST00000933209, ENST00000948416, ENST00000948417, ENST00000948418, ENST00000948419, ENST00000948420
RefSeq mRNA: 2 — MANE Select: NM_024326
NM_001387294, NM_024326
CCDS: CCDS31273
Canonical transcript exons
ENST00000369956 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000811530 | 102422804 | 102423136 |
| ENSE00001290000 | 102420836 | 102421182 |
| ENSE00001782501 | 102421787 | 102422292 |
| ENSE00002229252 | 102421354 | 102421507 |
Expression profiles
Bgee: expression breadth ubiquitous, 202 present calls, max score 91.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9818 / max 50.9335, expressed in 1509 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106714 | 3.7758 | 1504 |
| 106713 | 0.2060 | 86 |
Top tissues by expression
265 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 91.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.63 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.31 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.10 | gold quality |
| pituitary gland | UBERON:0000007 | 91.08 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.95 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.25 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.52 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.46 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.65 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.43 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 87.90 | gold quality |
| neocortex | UBERON:0001950 | 87.86 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.82 | gold quality |
| granulocyte | CL:0000094 | 87.81 | gold quality |
| apex of heart | UBERON:0002098 | 87.81 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.71 | gold quality |
| right adrenal gland | UBERON:0001233 | 87.63 | gold quality |
| caudate nucleus | UBERON:0001873 | 87.60 | gold quality |
| frontal cortex | UBERON:0001870 | 87.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.56 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.40 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.26 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.26 | gold quality |
| body of stomach | UBERON:0001161 | 87.17 | gold quality |
| transverse colon | UBERON:0001157 | 87.13 | gold quality |
| putamen | UBERON:0001874 | 87.10 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.07 | gold quality |
| cerebral cortex | UBERON:0000956 | 86.74 | gold quality |
| cerebellum | UBERON:0002037 | 86.34 | 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)
9 targeting FBXL15, 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-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-455-3P | 98.94 | 67.68 | 878 |
| HSA-MIR-6796-3P | 98.68 | 65.49 | 689 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-6883-3P | 97.97 | 67.35 | 643 |
| HSA-MIR-127-5P | 97.78 | 67.64 | 869 |
Literature-anchored findings (GeneRIF, showing 1)
- We identified the known APC/C regulator Cdh1 and the F-box protein Fbxl15 as specific modulators of N-cyclin B1-luciferase steady-state levels and turnover. Collectively, our studies suggest that analyzing the steady-state levels of luciferase fusion proteins in parallel facilitates identification of specific regulators of protein turnover. (PMID:28296622)
Cross-species orthologs
30 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbxl15 | ENSDARG00000005284 |
| mus_musculus | Fbxl15 | ENSMUSG00000025226 |
| rattus_norvegicus | Fbxl15 | ENSRNOG00000019509 |
| drosophila_melanogaster | CG15056 | FBGN0030918 |
| drosophila_melanogaster | CG8272 | FBGN0033337 |
| drosophila_melanogaster | CG9003 | FBGN0033639 |
| drosophila_melanogaster | Skp2 | FBGN0037236 |
| drosophila_melanogaster | CG14891 | FBGN0038445 |
| drosophila_melanogaster | CG5003 | FBGN0039554 |
| drosophila_melanogaster | FipoQ | FBGN0039667 |
| caenorhabditis_elegans | WBGENE00007206 | |
| caenorhabditis_elegans | WBGENE00007208 | |
| caenorhabditis_elegans | WBGENE00007887 | |
| caenorhabditis_elegans | WBGENE00008177 | |
| caenorhabditis_elegans | WBGENE00009689 | |
| caenorhabditis_elegans | gadr-6 | WBGENE00009823 |
| caenorhabditis_elegans | WBGENE00010365 | |
| caenorhabditis_elegans | K05C4.9 | WBGENE00010585 |
| caenorhabditis_elegans | WBGENE00012655 | |
| caenorhabditis_elegans | WBGENE00015350 | |
| caenorhabditis_elegans | WBGENE00018561 | |
| caenorhabditis_elegans | WBGENE00018613 | |
| caenorhabditis_elegans | WBGENE00018766 | |
| caenorhabditis_elegans | WBGENE00019239 | |
| caenorhabditis_elegans | WBGENE00020884 | |
| 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), FBXL20 (ENSG00000108306), FBXL4 (ENSG00000112234), FBXL5 (ENSG00000118564), FBXL16 (ENSG00000127585), 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 15 — Q9H469 (reviewed: Q9H469)
Alternative names: F-box only protein 37
All UniProt accessions (6): Q9H469, A0A0C4DFV0, X6RCZ8, X6RGT4, X6RHD7, X6RJB2
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 SMURF1, thereby acting as a positive regulator of the BMP signaling pathway. Required for dorsal/ventral pattern formation and bone mass maintenance. Also mediates ubiquitination of SMURF2 and WWP2.
Subunit / interactions. Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXL15) composed of CUL1, SKP1, RBX1 and FBXL15.
Subcellular location. Cytoplasm.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the FBXL15 family.
RefSeq proteins (2): NP_001374223, NP_077302* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001810 | F-box_dom | Domain |
| IPR006553 | Leu-rich_rpt_Cys-con_subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036047 | F-box-like_dom_sf | Homologous_superfamily |
| IPR057207 | FBXL15_LRR | Domain |
Pfam: PF00646, PF25372
UniProt features (10 total): repeat 5, chain 1, domain 1, region of interest 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H469-F1 | 90.12 | 0.84 |
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): 1
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: 96 (showing top):
GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_DORSAL_VENTRAL_PATTERN_FORMATION, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, GOBP_POSITIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, GOBP_BONE_MINERALIZATION, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_MITOTIC_CELL_CYCLE, GOBP_CELL_CYCLE_G2_M_PHASE_TRANSITION
GO Biological Process (6): G2/M transition of mitotic cell cycle (GO:0000086), dorsal/ventral pattern formation (GO:0009953), protein ubiquitination (GO:0016567), bone mineralization (GO:0030282), positive regulation of BMP signaling pathway (GO:0030513), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)
GO Molecular Function (1): protein binding (GO:0005515)
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 |
| mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cell cycle G2/M phase transition | 1 |
| regionalization | 1 |
| protein modification by small protein conjugation | 1 |
| ossification | 1 |
| biomineral tissue development | 1 |
| BMP signaling pathway | 1 |
| regulation of BMP signaling pathway | 1 |
| positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
904 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXL15 | TIPIN | Q9BVW5 | 810 |
| FBXL15 | TIMELESS | Q9UNS1 | 755 |
| FBXL15 | FBXO3 | Q9UK99 | 596 |
| FBXL15 | CUEDC2 | Q9H467 | 550 |
| FBXL15 | SKP1 | P34991 | 543 |
| FBXL15 | CLOCK | O15516 | 528 |
| FBXL15 | CUL1 | Q13616 | 528 |
| FBXL15 | PER3 | P56645 | 522 |
| FBXL15 | FBXO33 | Q7Z6M2 | 507 |
| FBXL15 | FBXO45 | P0C2W1 | 504 |
| FBXL15 | BMAL1 | O00327 | 497 |
| FBXL15 | TMEM150A | Q86TG1 | 497 |
| FBXL15 | SLC68A1 | Q14CX5 | 490 |
| FBXL15 | CEP97 | Q8IW35 | 489 |
| FBXL15 | FBXW2 | Q9UKT8 | 488 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXL15 | SKP1 | psi-mi:“MI:0914”(association) | 0.840 |
| FBXL15 | CUL1 | psi-mi:“MI:0914”(association) | 0.840 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| SKP1 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.640 |
| SMURF1 | FBXL15 | psi-mi:“MI:0915”(physical association) | 0.640 |
| FBXL15 | SMURF1 | psi-mi:“MI:0407”(direct interaction) | 0.640 |
| FBXL15 | SMURF1 | psi-mi:“MI:0915”(physical association) | 0.640 |
| FBXL15 | SMURF1 | psi-mi:“MI:0403”(colocalization) | 0.640 |
| CUL1 | FBXO21 | psi-mi:“MI:0914”(association) | 0.600 |
| FBXL15 | SMURF2 | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| FBXL15 | SMURF2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| FBXL15 | RBX1 | psi-mi:“MI:0914”(association) | 0.530 |
| HSP90AB1 | FBXL15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL15 | NEDD4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NEDD4L | FBXL15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HECW1 | FBXL15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL15 | HECW2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL15 | ITCH | psi-mi:“MI:0915”(physical association) | 0.400 |
| WWP1 | FBXL15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WWP2 | FBXL15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Skp1 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS6 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | BHLHE40 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (55): FBXL15 (Two-hybrid), FBXL15 (Two-hybrid), RORC (Two-hybrid), SKP1 (Affinity Capture-MS), CUL1 (Affinity Capture-MS), ARIH1 (Affinity Capture-MS), SKP1 (Affinity Capture-Western), FBXL15 (Affinity Capture-MS), CUL1 (Affinity Capture-MS), SKP1 (Affinity Capture-MS), ARIH1 (Affinity Capture-MS), FBXL15 (Reconstituted Complex), FBXL15 (Affinity Capture-MS), FBXL15 (Affinity Capture-MS), FBXL15 (Affinity Capture-MS)
ESM2 similar proteins: A6NED2, D2HEW7, D3ZZC3, D4A2K4, E1BNS0, E2RKN7, O35709, O60294, O94819, Q08BL9, Q08DS0, Q0D2K2, Q2TBA0, Q2WGJ6, Q3B7M1, Q3U410, Q4R828, Q53GT1, Q53HC5, Q5BK60, Q5U575, Q5ZJ37, Q66HD2, Q6DEL7, Q6E804, Q6INL2, Q6NYM1, Q6PF15, Q6TDP4, Q8BFQ9, Q8BGY4, Q8BNW9, Q8BSF5, Q8BYR1, Q8C3F7, Q8N239, Q8N4N3, Q8NEP7, Q8R2P1, Q8TD43
Diamond homologs: B5X441, D4ABB4, E1BNS0, E2RKN7, E6ZHJ8, Q5XGC0, Q6NW95, Q7SZ73, Q91W61, Q9H469
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FBXL15 | “down-regulates quantity by destabilization” | SMURF1 | binding |
| FBXL15 | “up-regulates activity” | “Cullin 1-RBX1-Skp1” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 32 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 |
|---|---|---|---|
| Downregulation of TGF-beta receptor signaling | 5 | 72.8× | 7e-07 |
| Degradation of GLI1 by the proteasome | 5 | 40.0× | 7e-06 |
| Regulation of RUNX2 expression and activity | 6 | 38.8× | 7e-07 |
| Hedgehog ‘on’ state | 5 | 28.3× | 4e-05 |
| Antigen processing: Ubiquitination & Proteasome degradation | 12 | 15.9× | 9e-10 |
| Class I MHC mediated antigen processing & presentation | 6 | 15.0× | 8e-05 |
| Neddylation | 7 | 11.8× | 5e-05 |
| Adaptive Immune System | 6 | 6.4× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein monoubiquitination | 6 | 68.8× | 3e-08 |
| protein K48-linked ubiquitination | 6 | 33.7× | 1e-06 |
| ubiquitin-dependent protein catabolic process | 9 | 22.3× | 3e-08 |
| protein ubiquitination | 13 | 17.9× | 2e-11 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 9 | 15.7× | 3e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
717 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:102419877:A:C | donor_gain | 1.0000 |
| 10:102421210:G:T | donor_gain | 1.0000 |
| 10:102421349:CGCAG:C | acceptor_loss | 1.0000 |
| 10:102421351:CAGGT:C | acceptor_loss | 1.0000 |
| 10:102421352:A:AC | acceptor_loss | 1.0000 |
| 10:102421352:A:AG | acceptor_gain | 1.0000 |
| 10:102421353:G:GG | acceptor_gain | 1.0000 |
| 10:102421353:G:GT | acceptor_loss | 1.0000 |
| 10:102421508:GTGAG:G | donor_loss | 1.0000 |
| 10:102422274:TCGG:T | donor_gain | 1.0000 |
| 10:102422277:G:GT | donor_gain | 1.0000 |
| 10:102419873:CCTAA:C | donor_gain | 0.9900 |
| 10:102419880:TG:T | donor_gain | 0.9900 |
| 10:102421179:TCAGG:T | donor_loss | 0.9900 |
| 10:102421180:CAGG:C | donor_loss | 0.9900 |
| 10:102421181:AGGTA:A | donor_loss | 0.9900 |
| 10:102421183:G:GC | donor_loss | 0.9900 |
| 10:102421184:T:G | donor_loss | 0.9900 |
| 10:102421210:G:GT | donor_gain | 0.9900 |
| 10:102421225:G:GT | donor_gain | 0.9900 |
| 10:102421226:G:T | donor_gain | 0.9900 |
| 10:102421346:A:AG | acceptor_gain | 0.9900 |
| 10:102421352:AG:A | acceptor_gain | 0.9900 |
| 10:102421353:GG:G | acceptor_gain | 0.9900 |
| 10:102421353:GGTT:G | acceptor_gain | 0.9900 |
| 10:102421353:GGTTC:G | acceptor_gain | 0.9900 |
| 10:102421504:GCAG:G | donor_gain | 0.9900 |
| 10:102421508:G:GG | donor_gain | 0.9900 |
| 10:102422288:GTCAG:G | donor_loss | 0.9900 |
| 10:102422289:TCAGG:T | donor_loss | 0.9900 |
AlphaMissense
1859 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:102422256:T:A | L226H | 0.998 |
| 10:102422211:T:A | V211D | 0.997 |
| 10:102422250:T:A | L224H | 0.997 |
| 10:102422250:T:C | L224P | 0.997 |
| 10:102422097:T:A | L173H | 0.996 |
| 10:102422188:C:A | N203K | 0.996 |
| 10:102422188:C:G | N203K | 0.996 |
| 10:102422256:T:C | L226P | 0.996 |
| 10:102422241:T:A | L221H | 0.995 |
| 10:102422264:T:C | C229R | 0.995 |
| 10:102422266:C:G | C229W | 0.995 |
| 10:102422854:G:A | C255Y | 0.995 |
| 10:102422019:T:A | L147H | 0.994 |
| 10:102422223:C:A | A215D | 0.994 |
| 10:102422855:C:G | C255W | 0.994 |
| 10:102422265:G:A | C229Y | 0.993 |
| 10:102422274:T:A | V232D | 0.993 |
| 10:102422839:T:C | L250P | 0.993 |
| 10:102422097:T:C | L173P | 0.992 |
| 10:102422172:T:A | L198H | 0.992 |
| 10:102422289:T:A | V237D | 0.992 |
| 10:102422174:T:C | S199P | 0.991 |
| 10:102421442:A:C | S48R | 0.990 |
| 10:102421444:C:A | S48R | 0.990 |
| 10:102421444:C:G | S48R | 0.990 |
| 10:102422035:G:C | W152C | 0.990 |
| 10:102422035:G:T | W152C | 0.990 |
| 10:102422100:C:T | T174I | 0.990 |
| 10:102422130:T:A | I184N | 0.990 |
| 10:102422256:T:G | L226R | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000872443 (10:102422498 T>C,G), RS1001330523 (10:102423001 G>A), RS1002159288 (10:102421576 G>A,T), RS1002206188 (10:102421920 C>T), RS1002877708 (10:102419565 C>A), RS1005086808 (10:102418937 C>G,T), RS1005117859 (10:102419155 C>T), RS1005175856 (10:102420657 T>C,G), RS1005682557 (10:102421244 G>A,C,T), RS1005785325 (10:102421907 C>T), RS1006029737 (10:102418907 C>A,G,T), RS1006175809 (10:102419346 G>A), RS1007008490 (10:102422474 C>CT), RS1007311214 (10:102420716 T>C), RS1007342241 (10:102420996 T>G)
Disease associations
OMIM: gene MIM:610287 | 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 |
|---|---|---|
| GCST001942_1 | Prostate cancer | 5.000000e-10 |
| GCST005956_50 | Waist-to-hip ratio adjusted for BMI | 8.000000e-06 |
| GCST005958_15 | Waist-to-hip ratio adjusted for BMI (age >50) | 4.000000e-06 |
| GCST005962_36 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 6.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Hydrogen Peroxide | affects expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ketoconazole | decreases expression | 1 |
| Lead | affects expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Vitamin K 3 | affects 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.