FBXL14
gene geneOn this page
Also known as MGC40195Fbl14
Summary
FBXL14 (F-box and leucine rich repeat protein 14, HGNC:28624) is a protein-coding gene on chromosome 12p13.33, encoding F-box/LRR-repeat protein 14 (Q8N1E6). Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin-protein ligase complexes.
Members of the F-box protein family, such as FBXL14, 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 144699 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_152441
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28624 |
| Approved symbol | FBXL14 |
| Name | F-box and leucine rich repeat protein 14 |
| Location | 12p13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC40195, Fbl14 |
| Ensembl gene | ENSG00000171823 |
| Ensembl biotype | protein_coding |
| OMIM | 609081 |
| Entrez | 144699 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000339235, ENST00000543278, ENST00000923181
RefSeq mRNA: 3 — MANE Select: NM_152441
NM_001405291, NM_001405292, NM_152441
CCDS: CCDS8509
Canonical transcript exons
ENST00000339235 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001250508 | 1565993 | 1566810 |
| ENSE00001374491 | 1592873 | 1594581 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 92.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6259 / max 399.7117, expressed in 1658 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128926 | 2.4842 | 845 |
| 128929 | 0.8632 | 446 |
| 128927 | 0.8563 | 470 |
| 128928 | 0.8200 | 413 |
| 128931 | 0.8010 | 465 |
| 128930 | 0.7844 | 425 |
| 128925 | 0.5468 | 336 |
| 128923 | 0.2609 | 96 |
| 128932 | 0.1383 | 34 |
| 128924 | 0.0708 | 28 |
Top tissues by expression
236 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 92.12 | gold quality |
| right testis | UBERON:0004534 | 91.88 | gold quality |
| testis | UBERON:0000473 | 87.83 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.09 | gold quality |
| granulocyte | CL:0000094 | 81.75 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.56 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.33 | gold quality |
| ventricular zone | UBERON:0003053 | 80.92 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.89 | gold quality |
| cortical plate | UBERON:0005343 | 80.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 80.52 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 80.20 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 79.74 | gold quality |
| leukocyte | CL:0000738 | 79.53 | gold quality |
| transverse colon | UBERON:0001157 | 79.38 | gold quality |
| monocyte | CL:0000576 | 79.09 | gold quality |
| gall bladder | UBERON:0002110 | 78.78 | gold quality |
| body of stomach | UBERON:0001161 | 78.49 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.48 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.13 | gold quality |
| adenohypophysis | UBERON:0002196 | 78.12 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 78.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 77.90 | gold quality |
| right uterine tube | UBERON:0001302 | 77.53 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.18 | gold quality |
| spinal cord | UBERON:0002240 | 77.13 | gold quality |
| caudate nucleus | UBERON:0001873 | 77.04 | gold quality |
| nucleus accumbens | UBERON:0001882 | 76.95 | gold quality |
| neocortex | UBERON:0001950 | 76.75 | gold quality |
| body of pancreas | UBERON:0001150 | 76.70 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.50 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting FBXL14, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
Literature-anchored findings (GeneRIF, showing 5)
- Data show that Twist1 small interfering RNA prevents hypoxia-induced Fbxl14 down-regulation and SNAIL1 stabilization. (PMID:19955572)
- USP13 and FBXL14 play opposing roles in the regulation of glioma stem cells (GSCs) through reversible ubiquitination of c-Myc. (PMID:27923907)
- induced FBXL13 expression downregulates centrosomal gamma-tubulin and disrupts centrosomal microtubule arrays. In addition, depletion of FBXL13 induces high levels of CEP192 and gamma-tubulin at the centrosomes with the consequence of defects in cell motility. (PMID:29348145)
- FBXL14 acts as an novel interaction partner of CDCP1, and facilitates its ubiquitination and proteasomal degradation with an enhanced capacity to suppress CDCP1 protein stability that eventually prevents CDCP1 target genes involved in breast cancer metastasis. (PMID:29973690)
- Loss of FBXL14 promotes mesenchymal shift and radioresistance of non-small cell lung cancer by TWIST1 stabilization. (PMID:34285182)
Cross-species orthologs
20 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbxl14a | ENSDARG00000034497 |
| danio_rerio | fbxl14b | ENSDARG00000045801 |
| mus_musculus | Fbxl14 | ENSMUSG00000030019 |
| rattus_norvegicus | Fbxl14 | ENSRNOG00000070828 |
| drosophila_melanogaster | Ppa | FBGN0020257 |
| 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), FBXL16 (ENSG00000127585), SKP2 (ENSG00000145604), FBXL17 (ENSG00000145743), FBXL2 (ENSG00000153558), FBXL18 (ENSG00000155034), FBXL13 (ENSG00000161040), FBXL6 (ENSG00000182325), FBXL7 (ENSG00000183580), FBXL22 (ENSG00000197361)
Protein
Protein identifiers
F-box/LRR-repeat protein 14 — Q8N1E6 (reviewed: Q8N1E6)
Alternative names: F-box and leucine-rich repeat protein 14
All UniProt accessions (1): Q8N1E6
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin-protein ligase complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1.
Subunit / interactions. Part of a SCF (SKP1-cullin-F-box) ubiquitin-protein ligase complex. Interacts with SKP1 and CUL1. Interacts with SNAI1; the interaction requires the phosphorylation of the two serine residues in the substrate destruction motif D-S-G-X(2,3,4)-S.
Subcellular location. Cytoplasm.
Induction. Down-regulated by hypoxia.
RefSeq proteins (3): NP_001392220, NP_001392221, NP_689654* (*=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 |
| IPR047932 | FBXL14_F-box | Domain |
| IPR057207 | FBXL15_LRR | Domain |
Pfam: PF12937, PF25372
UniProt features (9 total): repeat 5, chain 1, domain 1, region of interest 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N1E6-F1 | 91.59 | 0.84 |
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: 132 (showing top):
BENPORATH_ES_WITH_H3K27ME3, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, AP2_Q3, CEBPB_01, WTGAAAT_UNKNOWN, GOBP_SCF_DEPENDENT_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, RYTTCCTG_ETS2_B, HAND1E47_01, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, TGGAAA_NFAT_Q4_01, GOCC_SCF_UBIQUITIN_LIGASE_COMPLEX
GO Biological Process (2): ubiquitin-dependent protein catabolic process (GO:0006511), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)
GO Molecular Function (2): ubiquitin-protein transferase activity (GO:0004842), 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 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| ubiquitin-like protein transferase activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
1127 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXL14 | FBXO11 | Q86XK2 | 773 |
| FBXL14 | SKP1 | P34991 | 753 |
| FBXL14 | CUL1 | Q13616 | 749 |
| FBXL14 | FBXL5 | Q9UKA1 | 727 |
| FBXL14 | SNAI1 | O95863 | 711 |
| FBXL14 | BTRC | Q9Y297 | 637 |
| FBXL14 | FBXO45 | P0C2W1 | 627 |
| FBXL14 | USP17L2 | Q6R6M4 | 546 |
| FBXL14 | LRTM2 | Q8N967 | 511 |
| FBXL14 | FBXL12 | Q9NXK8 | 505 |
| FBXL14 | DUSP6 | Q16828 | 495 |
| FBXL14 | FBXO25 | Q8TCJ0 | 492 |
| FBXL14 | SPSB3 | Q6PJ21 | 490 |
| FBXL14 | FBXO28 | Q9NVF7 | 477 |
| FBXL14 | FBXO33 | Q7Z6M2 | 470 |
IntAct
32 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SKP1 | FBXL14 | psi-mi:“MI:0915”(physical association) | 0.840 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| CUL1 | FBXO21 | psi-mi:“MI:0914”(association) | 0.600 |
| MTA3 | KDM1A | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL14 | CRYZL1 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL14 | SEC11A | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL14 | DAPK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SNAI1 | FBXL14 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSP90AB1 | FBXL14 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBP5 | FBXL14 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL14 | Hacd3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL14 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL14 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| FBXL14 | AARSD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL14 | SNAI1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS6 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| STYX | PAK4 | psi-mi:“MI:0914”(association) | 0.350 |
| FEM1A | RNF113A | psi-mi:“MI:0914”(association) | 0.350 |
| TLE1 | TBX1 | psi-mi:“MI:0914”(association) | 0.350 |
| TLE1 | PCBP3 | psi-mi:“MI:0914”(association) | 0.350 |
| FEM1A | DHRS3 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL14 | MYH7B | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| TLE1 | CKB | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | NDC80 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | FBXL14 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (83): FBXL14 (Affinity Capture-MS), PPP1R21 (Affinity Capture-MS), TTC9C (Affinity Capture-MS), CRYZL1 (Affinity Capture-MS), CUL1 (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), AAGAB (Affinity Capture-MS), ITPR1 (Affinity Capture-MS), COPS2 (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), COPS6 (Affinity Capture-MS), GPS1 (Affinity Capture-MS), DAAM1 (Affinity Capture-MS), FSTL1 (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: Q17R01, Q8BID8, Q8N1E6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FBXL14 | “down-regulates quantity by destabilization” | MYC | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 31 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 | 12.4× | 2e-03 |
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 | 34 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1117 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:1574842:G:GG | donor_gain | 1.0000 |
| 12:1574837:GTCAT:G | donor_gain | 0.9900 |
| 12:1574840:ATG:A | donor_loss | 0.9900 |
| 12:1574841:TGT:T | donor_loss | 0.9900 |
| 12:1574842:G:GC | donor_loss | 0.9900 |
| 12:1574843:TG:T | donor_loss | 0.9900 |
| 12:1574844:GA:G | donor_loss | 0.9900 |
| 12:1574845:AGT:A | donor_loss | 0.9900 |
| 12:1574846:G:C | donor_loss | 0.9800 |
| 12:1587440:CTTT:C | donor_gain | 0.9800 |
| 12:1587443:T:A | donor_gain | 0.9800 |
| 12:1566807:CCTC:C | acceptor_gain | 0.9700 |
| 12:1566808:CTCC:C | acceptor_gain | 0.9700 |
| 12:1566808:CTCCT:C | acceptor_loss | 0.9700 |
| 12:1566809:TCCT:T | acceptor_gain | 0.9700 |
| 12:1566809:TCCTG:T | acceptor_loss | 0.9700 |
| 12:1566810:CCTG:C | acceptor_loss | 0.9700 |
| 12:1566812:T:A | acceptor_loss | 0.9700 |
| 12:1574838:TCAT:T | donor_gain | 0.9700 |
| 12:1579164:T:TG | donor_gain | 0.9700 |
| 12:1587439:A:AC | donor_gain | 0.9700 |
| 12:1587440:C:CC | donor_gain | 0.9700 |
| 12:1590294:A:AG | donor_gain | 0.9700 |
| 12:1590393:A:T | donor_gain | 0.9700 |
| 12:1592895:CAGAG:C | acceptor_gain | 0.9700 |
| 12:1574692:G:GT | donor_gain | 0.9600 |
| 12:1566811:C:CC | acceptor_gain | 0.9500 |
| 12:1566815:A:T | acceptor_gain | 0.9500 |
| 12:1579164:T:G | donor_gain | 0.9500 |
| 12:1587446:TTTGC:T | donor_gain | 0.9500 |
AlphaMissense
2710 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:1592950:C:G | G373R | 1.000 |
| 12:1592969:G:C | C366W | 1.000 |
| 12:1592971:A:G | C366R | 1.000 |
| 12:1592979:A:G | L363P | 1.000 |
| 12:1592979:A:T | L363Q | 1.000 |
| 12:1592985:A:T | I361K | 1.000 |
| 12:1593028:C:G | G347R | 1.000 |
| 12:1593033:T:A | D345V | 1.000 |
| 12:1593047:A:C | C340W | 1.000 |
| 12:1593049:A:G | C340R | 1.000 |
| 12:1593054:C:A | G338V | 1.000 |
| 12:1593054:C:T | G338E | 1.000 |
| 12:1593063:A:G | L335P | 1.000 |
| 12:1593063:A:T | L335H | 1.000 |
| 12:1593106:C:G | G321R | 1.000 |
| 12:1593112:C:G | D319H | 1.000 |
| 12:1593136:A:G | S311P | 1.000 |
| 12:1593179:A:C | S296R | 1.000 |
| 12:1593179:A:T | S296R | 1.000 |
| 12:1593181:T:G | S296R | 1.000 |
| 12:1593200:A:C | C289W | 1.000 |
| 12:1593201:C:T | C289Y | 1.000 |
| 12:1593202:A:G | C289R | 1.000 |
| 12:1593203:G:C | F288L | 1.000 |
| 12:1593203:G:T | F288L | 1.000 |
| 12:1593205:A:G | F288L | 1.000 |
| 12:1593205:A:T | F288I | 1.000 |
| 12:1593258:C:T | G270D | 1.000 |
| 12:1593259:C:G | G270R | 1.000 |
| 12:1593279:C:T | C263Y | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000089218 (12:1573825 A>T), RS1000112145 (12:1579413 C>G), RS1000150728 (12:1595150 C>T), RS1000163375 (12:1590958 T>C), RS1000276173 (12:1568686 AC>A,ACC), RS1000281556 (12:1591380 A>G), RS1000564663 (12:1577589 C>CA), RS1000581305 (12:1583473 C>G,T), RS1000658273 (12:1589823 C>T), RS1000881397 (12:1567487 T>C), RS1000918317 (12:1569285 C>A,G), RS1000951258 (12:1572523 G>T), RS1001096153 (12:1589738 G>A), RS1001227890 (12:1584510 T>C), RS1001245331 (12:1567277 A>G)
Disease associations
OMIM: gene MIM:609081 | 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 |
|---|---|---|
| GCST006106_4 | Forehead morphology | 3.000000e-06 |
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 |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation, increases expression, affects cotreatment | 6 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Rotenone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Zinc | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1X1 | HAP1 FBXL14 (-) 1 | Cancer cell line | Male |
| CVCL_E1X2 | HAP1 FBXL14 (-) 2 | 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.