FBXL18
gene geneOn this page
Also known as FLJ11467Fbl18
Summary
FBXL18 (F-box and leucine rich repeat protein 18, HGNC:21874) is a protein-coding gene on chromosome 7p22.1, encoding F-box/LRR-repeat protein 18 (Q96ME1). Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains.
Source: NCBI Gene 80028 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 113 total
- MANE Select transcript:
NM_024963
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21874 |
| Approved symbol | FBXL18 |
| Name | F-box and leucine rich repeat protein 18 |
| Location | 7p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11467, Fbl18 |
| Ensembl gene | ENSG00000155034 |
| Ensembl biotype | protein_coding |
| OMIM | 609084 |
| Entrez | 80028 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay
ENST00000382368, ENST00000415009, ENST00000458142, ENST00000948868
RefSeq mRNA: 6 — MANE Select: NM_024963
NM_001321213, NM_001363441, NM_001363442, NM_001367780, NM_001367781, NM_024963
CCDS: CCDS43546
Canonical transcript exons
ENST00000382368 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001018855 | 5505412 | 5505630 |
| ENSE00001126796 | 5513657 | 5513809 |
| ENSE00001491867 | 5475797 | 5481931 |
| ENSE00001713688 | 5491231 | 5491449 |
| ENSE00002150451 | 5500488 | 5502031 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 90.14.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.5221 / max 116.5308, expressed in 1795 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82581 | 15.5221 | 1795 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vena cava | UBERON:0004087 | 90.14 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 89.68 | silver quality |
| buccal mucosa cell | CL:0002336 | 88.96 | silver quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 87.45 | silver quality |
| entorhinal cortex | UBERON:0002728 | 86.19 | gold quality |
| cardia of stomach | UBERON:0001162 | 85.79 | silver quality |
| postcentral gyrus | UBERON:0002581 | 85.67 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 85.66 | silver quality |
| parietal lobe | UBERON:0001872 | 85.35 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 84.94 | gold quality |
| ventral tegmental area | UBERON:0002691 | 84.58 | silver quality |
| pons | UBERON:0000988 | 84.41 | silver quality |
| oocyte | CL:0000023 | 84.08 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 83.76 | silver quality |
| tendon of biceps brachii | UBERON:0008188 | 83.06 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 82.65 | silver quality |
| globus pallidus | UBERON:0001875 | 82.61 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 82.23 | silver quality |
| pharyngeal mucosa | UBERON:0000355 | 82.04 | gold quality |
| superior surface of tongue | UBERON:0007371 | 81.85 | gold quality |
| saphenous vein | UBERON:0007318 | 81.82 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 81.71 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 81.54 | gold quality |
| medial globus pallidus | UBERON:0002477 | 81.42 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 81.31 | silver quality |
| nipple | UBERON:0002030 | 81.19 | silver quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 80.99 | gold quality |
| renal medulla | UBERON:0000362 | 80.49 | silver quality |
| cerebellar vermis | UBERON:0004720 | 80.29 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 80.05 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 6.68 |
| E-ANND-3 | no | 4.65 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
183 targeting FBXL18, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-23A-5P | 99.94 | 65.39 | 468 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
Literature-anchored findings (GeneRIF, showing 3)
- Fbxl18 regulates apoptosis by mediating ubiquitin-dependent proteasomal degradation of the pro-apoptotic protein Fbxl7 that may impact cellular processes involved in cell cycle progression. (PMID:25654763)
- Study showed that LRRK2 phosphorylation is required for LRRK2 to bind to Fbxl18, and that this interaction is important for regulating the amount of LRRK2 via ubiquitination of LRRK2 by the SCFFbxl18 ubiquitin ligase and subsequent proteasomal degradation of LRRK2. We also show that LRRK2 can induce caspase 8 mediated cell death and that the degradation of LRRK2 mediated by Fbxl18 can prevent LRRK2-mediated toxicity. (PMID:27890708)
- FBXL18 plays an oncogenic role through promoting lysine 63-linked ubiquitination of Akt in glioma. (PMID:27926990)
Cross-species orthologs
31 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbxl18 | ENSDARG00000007443 |
| mus_musculus | Fbxl18 | ENSMUSG00000066640 |
| rattus_norvegicus | Fbxl18 | ENSRNOG00000001117 |
| rattus_norvegicus | Fbxl18l1 | ENSRNOG00000062659 |
| 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), FBXL15 (ENSG00000107872), FBXL20 (ENSG00000108306), FBXL4 (ENSG00000112234), FBXL5 (ENSG00000118564), FBXL16 (ENSG00000127585), SKP2 (ENSG00000145604), FBXL17 (ENSG00000145743), FBXL2 (ENSG00000153558), FBXL13 (ENSG00000161040), FBXL14 (ENSG00000171823), FBXL6 (ENSG00000182325), FBXL7 (ENSG00000183580), FBXL22 (ENSG00000197361)
Protein
Protein identifiers
F-box/LRR-repeat protein 18 — Q96ME1 (reviewed: Q96ME1)
Alternative names: F-box and leucine-rich repeat protein 18
All UniProt accessions (2): Q96ME1, A0A994ENR3
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. Directly interacts with SKP1 and CUL1.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96ME1-4 | 4 | yes |
| Q96ME1-1 | 1 | |
| Q96ME1-2 | 2 | |
| Q96ME1-3 | 3 | |
| Q96ME1-5 | 5 |
RefSeq proteins (6): NP_001308142, NP_001350370, NP_001350371, NP_001354709, NP_001354710, NP_079239* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001810 | F-box_dom | Domain |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036047 | F-box-like_dom_sf | Homologous_superfamily |
| IPR045627 | FBXL18_LRR | Domain |
| IPR047948 | FBXL18_F-box | Domain |
Pfam: PF12937, PF19729
UniProt features (27 total): repeat 12, splice variant 6, sequence conflict 4, sequence variant 3, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96ME1-F1 | 87.44 | 0.72 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-8854050 | FBXL7 down-regulates AURKA during mitotic entry and in early mitosis |
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 111 (showing top):
RNGTGGGC_UNKNOWN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, chr7p22, GATA1_04, GATA1_03, MAF_Q6, GOBP_SCF_DEPENDENT_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, GOBP_PROTEIN_CATABOLIC_PROCESS, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN
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 (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 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 |
|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
578 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXL18 | SKP1 | P34991 | 834 |
| FBXL18 | CUL1 | Q13616 | 729 |
| FBXL18 | RBX1 | P62877 | 614 |
| FBXL18 | FBXL7 | Q9UJT9 | 495 |
| FBXL18 | FBXL14 | Q8N1E6 | 456 |
| FBXL18 | RNF216 | Q9NWF9 | 420 |
| FBXL18 | FBXO21 | O94952 | 385 |
| FBXL18 | FBXL2 | Q9UKC9 | 383 |
| FBXL18 | FBXL6 | Q8N531 | 374 |
| FBXL18 | FBXL22 | Q6P050 | 374 |
| FBXL18 | FBXO9 | Q9UK97 | 345 |
| FBXL18 | FBXL20 | Q96IG2 | 337 |
| FBXL18 | FBXO45 | P0C2W1 | 326 |
| FBXL18 | FBXL12 | Q9NXK8 | 313 |
| FBXL18 | FBXO7 | Q9Y3I1 | 310 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SKP1 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL1 | FBXO21 | psi-mi:“MI:0914”(association) | 0.600 |
| FBXL18 | WWP2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| SKP2 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEA1 | MAGEB3 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL16 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| IRGC | RAP1GDS1 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL18 | DHRS2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL18 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FBXL18 | E7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBXL18 | WWP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| 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 |
| DUSP16 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | BHLHE40 | psi-mi:“MI:0914”(association) | 0.350 |
| TTC9C | PLD2 | psi-mi:“MI:0914”(association) | 0.350 |
| TBL1Y | HDAC3 | psi-mi:“MI:0914”(association) | 0.350 |
| RBX1 | OBSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MOCS3 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG7 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | RNASET2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA1 | ANKRD17 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP2 | ZNF195 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (86): FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid), FBXL18 (Two-hybrid)
ESM2 similar proteins: A1A5X2, A2RT62, A3KMV1, A4IIK1, B3FL73, F4HX15, P0C192, P0C5J9, P0CC10, Q09299, Q17R01, Q2T9W8, Q32KX5, Q32PG9, Q38SD2, Q3TX51, Q3UHC2, Q3V1N1, Q3ZBA7, Q4G017, Q570C0, Q5BJ29, Q5MJ12, Q65XV2, Q6GLE8, Q6P7W2, Q80TM9, Q86V97, Q86X40, Q8BFZ4, Q8BID8, Q8C4V4, Q8N1E6, Q8N461, Q8TBC3, Q8W104, Q8WVZ9, Q96ME1, Q9EPX5, Q9LW29
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FBXL18 | “down-regulates quantity by destabilization” | ERCC3 | binding |
| FBXL18 | “down-regulates quantity by destabilization” | FBXL7 | binding |
| FBXL18 | “up-regulates activity” | “Cullin 1-RBX1-Skp1” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 42 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 |
|---|---|---|---|
| NOTCH1 Intracellular Domain Regulates Transcription | 5 | 42.5× | 9e-06 |
| GSK3B-mediated proteasomal degradation of PD-L1(CD274) | 5 | 42.5× | 9e-06 |
| Constitutive Signaling by NOTCH1 PEST Domain Mutants | 5 | 35.2× | 1e-05 |
| Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | 5 | 35.2× | 1e-05 |
| Regulation of RUNX2 expression and activity | 5 | 32.4× | 2e-05 |
| Orc1 removal from chromatin | 5 | 31.9× | 2e-05 |
| Neddylation | 10 | 16.9× | 3e-08 |
| Antigen processing: Ubiquitination & Proteasome degradation | 8 | 10.6× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 5 | 48.0× | 2e-05 |
| protein K48-linked ubiquitination | 5 | 21.6× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 92 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1528 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:5481930:AG:A | acceptor_gain | 1.0000 |
| 7:5481932:C:CC | acceptor_gain | 1.0000 |
| 7:5481938:C:CT | acceptor_gain | 1.0000 |
| 7:5491226:CTCA:C | donor_loss | 1.0000 |
| 7:5491227:TCAC:T | donor_loss | 1.0000 |
| 7:5491228:CACCT:C | donor_loss | 1.0000 |
| 7:5491229:A:AC | donor_gain | 1.0000 |
| 7:5491230:C:CC | donor_gain | 1.0000 |
| 7:5491230:C:CT | donor_loss | 1.0000 |
| 7:5491230:CCTG:C | donor_gain | 1.0000 |
| 7:5491445:CCAGC:C | acceptor_gain | 1.0000 |
| 7:5491446:CAGC:C | acceptor_gain | 1.0000 |
| 7:5491446:CAGCC:C | acceptor_gain | 1.0000 |
| 7:5491447:AGC:A | acceptor_gain | 1.0000 |
| 7:5491447:AGCC:A | acceptor_loss | 1.0000 |
| 7:5491448:GC:G | acceptor_gain | 1.0000 |
| 7:5491448:GCCT:G | acceptor_loss | 1.0000 |
| 7:5491449:CC:C | acceptor_gain | 1.0000 |
| 7:5491450:C:CC | acceptor_gain | 1.0000 |
| 7:5491451:T:G | acceptor_loss | 1.0000 |
| 7:5502027:CTCGC:C | acceptor_gain | 1.0000 |
| 7:5502028:TCGC:T | acceptor_gain | 1.0000 |
| 7:5502029:CGCC:C | acceptor_gain | 1.0000 |
| 7:5502032:CTGC:C | acceptor_loss | 1.0000 |
| 7:5502046:CAGGG:C | acceptor_gain | 1.0000 |
| 7:5505407:CTCA:C | donor_loss | 1.0000 |
| 7:5505408:TCACC:T | donor_loss | 1.0000 |
| 7:5505409:CACCT:C | donor_loss | 1.0000 |
| 7:5505410:A:AC | donor_gain | 1.0000 |
| 7:5505410:A:T | donor_loss | 1.0000 |
AlphaMissense
4668 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000003585 (7:5493205 C>T), RS1000004388 (7:5464128 G>A), RS1000013631 (7:5472624 G>A), RS1000060219 (7:5483994 G>A), RS1000098776 (7:5463972 C>T), RS1000168022 (7:5468174 G>A), RS1000178261 (7:5497452 T>C), RS1000209760 (7:5455713 T>A), RS1000348757 (7:5471974 C>T), RS1000374751 (7:5507690 G>A), RS1000414862 (7:5476811 C>G,T), RS1000428663 (7:5507883 C>T), RS1000442709 (7:5513765 C>A), RS1000458279 (7:5493421 G>A,C,T), RS1000473064 (7:5502958 C>T)
Disease associations
OMIM: gene MIM:609084 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002183_6 | Relative hand skill in reading disability | 4.000000e-06 |
| GCST003139_17 | Glomerular filtration rate in chronic kidney disease | 4.000000e-06 |
| GCST006284_14 | Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease | 2.000000e-06 |
| GCST006284_5 | Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease | 7.000000e-09 |
| GCST90002380_41 | Basophil percentage of white cells | 1.000000e-11 |
| GCST90002385_177 | High light scatter reticulocyte count | 8.000000e-12 |
| GCST90002394_183 | Monocyte percentage of white cells | 4.000000e-13 |
| GCST90002395_680 | Mean platelet volume | 1.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009902 | handedness |
| EFO:0006899 | PCSK9 protein measurement |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0007986 | reticulocyte count |
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression, increases methylation | 3 |
| sodium arsenite | increases expression | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| titanium dioxide | decreases methylation | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| afimoxifene | decreases expression, decreases reaction | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Estrogens | decreases expression, decreases reaction | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Rotenone | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | 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.