FBXL20

Summary

FBXL20 (F-box and leucine rich repeat protein 20, HGNC:24679) is a protein-coding gene on chromosome 17q12, encoding F-box/LRR-repeat protein 20 (Q96IG2). 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 FBXL20, 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 84961 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_032875

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24679
Approved symbol	FBXL20
Name	F-box and leucine rich repeat protein 20
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	MGC15482, Fbl2, Fbl20
Ensembl gene	ENSG00000108306
Ensembl biotype	protein_coding
OMIM	609086
Entrez	84961

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000264658, ENST00000394294, ENST00000577399, ENST00000581781, ENST00000583610, ENST00000647139, ENST00000906187, ENST00000906188, ENST00000906189, ENST00000906190

RefSeq mRNA: 4 — MANE Select: NM_032875 NM_001184906, NM_001370208, NM_001370209, NM_032875

CCDS: CCDS32640, CCDS54116

Canonical transcript exons

ENST00000264658 — 15 exons

Exon	Start	End
ENSE00000718733	39301001	39301075
ENSE00000857738	39303585	39303639
ENSE00000857739	39298990	39299084
ENSE00000857740	39297127	39297195
ENSE00000857741	39285478	39285573
ENSE00000857742	39282729	39282855
ENSE00000857743	39281389	39281463
ENSE00000857744	39274970	39275100
ENSE00001111409	39265397	39265453
ENSE00001111410	39270796	39270856
ENSE00001111412	39264175	39264387
ENSE00001111413	39268827	39268871
ENSE00001632153	39343180	39343241
ENSE00002726418	39252663	39261567
ENSE00002727680	39401361	39401626

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 96.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3201 / max 362.0980, expressed in 1790 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165598	11.0656	1754
165599	2.2546	1230

Top tissues by expression

255 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.29	gold quality
ileal mucosa	UBERON:0000331	93.75	gold quality
oocyte	CL:0000023	93.55	gold quality
pancreatic ductal cell	CL:0002079	92.02	gold quality
tibialis anterior	UBERON:0001385	91.19	gold quality
oviduct epithelium	UBERON:0004804	90.60	gold quality
upper leg skin	UBERON:0004262	90.10	gold quality
endothelial cell	CL:0000115	89.01	gold quality
kidney epithelium	UBERON:0004819	88.88	gold quality
upper arm skin	UBERON:0004263	88.31	silver quality
middle temporal gyrus	UBERON:0002771	86.89	gold quality
thymus	UBERON:0002370	86.61	gold quality
deltoid	UBERON:0001476	86.53	silver quality
sperm	CL:0000019	86.41	gold quality
buccal mucosa cell	CL:0002336	86.20	gold quality
saphenous vein	UBERON:0007318	85.87	gold quality
cerebellar vermis	UBERON:0004720	85.41	gold quality
skin of hip	UBERON:0001554	85.26	gold quality
nipple	UBERON:0002030	84.64	gold quality
blood	UBERON:0000178	83.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.58	gold quality
layer of synovial tissue	UBERON:0007616	83.51	gold quality
adult organism	UBERON:0007023	83.40	gold quality
pons	UBERON:0000988	82.67	gold quality
trabecular bone tissue	UBERON:0002483	82.61	gold quality
lateral nuclear group of thalamus	UBERON:0002736	82.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.17	gold quality
cortical plate	UBERON:0005343	82.16	gold quality
colonic epithelium	UBERON:0000397	82.10	gold quality
adrenal tissue	UBERON:0018303	82.09	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.86
E-MTAB-6379	no	144.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

297 targeting FBXL20, 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-190A-3P	100.00	80.35	5520
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
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-4768-5P	100.00	69.49	2861
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-196A-1-3P	99.99	72.15	2772

Literature-anchored findings (GeneRIF, showing 6)

• study concludes FBXL20 plays an essential role in the carcinogenesis of colorectal adenocarcinoma and promotes carcinogenesis through the regulation of the Wnt signaling pathway and caspase activation (PMID:23023584)
• which provides a signal to promote its ubiquitination and proteasomal degradation mediated by FBXL20 and the associated Skp1-Cullin1 complex, leading to inhibition of autophagy and receptor endocytosis (PMID:25593308)
• F-Box and Leucine-Rich Repeat Protein 20 (FBXL20), Negatively Regulated by microRNA (miR)-195-5p, Accelerates the Malignant Progression of Ovarian Cancer. (PMID:34338995)
• FBXL20 promotes breast cancer malignancy by inhibiting apoptosis through degradation of PUMA and BAX. (PMID:34587475)
• FBXL20-mediated ubiquitination triggers the proteasomal degradation of 4-1BB. (PMID:35112462)
• SP1-induced PROX1-AS1 contributes to tumor progression by regulating miR-326/FBXL20 axis in colorectal cancer. (PMID:36374774)

Cross-species orthologs

30 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbxl20	ENSDARG00000075567
mus_musculus	Fbxl20	ENSMUSG00000020883
rattus_norvegicus	Fbxl20	ENSRNOG00000083773
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), 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 20 — Q96IG2 (reviewed: Q96IG2)

Alternative names: F-box and leucine-rich repeat protein 20, F-box/LRR-repeat protein 2-like

All UniProt accessions (4): Q96IG2, A0A2R8Y677, J3KTA1, J3QKL3

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role in neural transmission.

Subunit / interactions. Interacts with SKP1 and CUL1.

Subcellular location. Cytoplasm.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96IG2-1	1	yes
Q96IG2-2	2

RefSeq proteins (4): NP_001171835, NP_001357137, NP_001357138, NP_116264* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR001810	F-box_dom	Domain
IPR006553	Leu-rich_rpt_Cys-con_subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR057207	FBXL15_LRR	Domain

Pfam: PF12937, PF13516, PF25372

UniProt features (20 total): repeat 13, modified residue 2, sequence conflict 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96IG2-F1	90.72	0.76

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): 417, 421

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: 247 (showing top): AHRARNT_01, GGGACCA_MIR133A_MIR133B, MYAATNNNNNNNGGC_UNKNOWN, E2F_Q4_01, MYOGENIN_Q6, GOBP_BEHAVIOR, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_NEUROTRANSMITTER_TRANSPORT

GO Biological Process (4): behavioral fear response (GO:0001662), SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146), regulation of protein catabolic process at presynapse, modulating synaptic transmission (GO:0099575), regulation of synaptic vesicle exocytosis (GO:2000300)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005), Schaffer collateral - CA1 synapse (GO:0098685), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), synapse (GO:0045202)

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	3
synapse	3
behavioral defense response	1
fear response	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
chemical synaptic transmission	1
regulation of protein catabolic process	1
presynapse	1
presynaptic modulation of chemical synaptic transmission	1
synaptic vesicle exocytosis	1
regulation of neurotransmitter secretion	1
regulation of regulated secretory pathway	1
binding	1
cytoplasm	1
cullin-RING ubiquitin ligase complex	1
intracellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

1072 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXL20	SKP1	P34991	674
FBXL20	CUL1	Q13616	631
FBXL20	CDK12	Q9NYV4	554
FBXL20	CREB3L4	Q8TEY5	543
FBXL20	FBXL8	Q96CD0	503
FBXL20	EIF2S3	P41091	497
FBXL20	GAB1	Q13480	493
FBXL20	CLEC4M	Q9H2X3	493
FBXL20	CREB3	O43889	492
FBXL20	EIF2B3	Q9NR50	492
FBXL20	UBR2	Q8IWV8	474
FBXL20	FBXW7	Q969H0	473
FBXL20	FBXO11	Q86XK2	458
FBXL20	CLDN1	O95832	454
FBXL20	CD81	P18582	450

IntAct

20 interactions, top by confidence:

A	B	Type	Score
SKP1	FBXL20	psi-mi:“MI:0915”(physical association)	0.800
RABGGTB	YKT6	psi-mi:“MI:0914”(association)	0.740
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
YPEL1	STRN3	psi-mi:“MI:0914”(association)	0.530
SLC15A4	PGRMC1	psi-mi:“MI:0914”(association)	0.530
PPP2R2A	FBXL20	psi-mi:“MI:0915”(physical association)	0.460
PPP2R2A	FBXL20	psi-mi:“MI:0403”(colocalization)	0.460
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
SKP1	BHLHE40	psi-mi:“MI:0914”(association)	0.350
PDE6D	SUN1	psi-mi:“MI:0914”(association)	0.350
YPEL3	FBXL20	psi-mi:“MI:0914”(association)	0.350
SKP1	RNASET2	psi-mi:“MI:0914”(association)	0.350
YPEL3	APAF1	psi-mi:“MI:0914”(association)	0.350
SKP1	NDUFAB1	psi-mi:“MI:0914”(association)	0.350
SKP1	NDC80	psi-mi:“MI:0914”(association)	0.350
SKP1	FBXL20	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (40): FBXL20 (Synthetic Lethality), FBXL20 (Affinity Capture-MS), FBXL20 (Affinity Capture-MS), FBXL20 (Affinity Capture-MS), FBXL20 (Affinity Capture-MS), FBXL20 (Affinity Capture-Western), PIK3C3 (Affinity Capture-Western), CUL1 (Affinity Capture-Western), PIK3C3 (Biochemical Activity), FBXL20 (Affinity Capture-MS), FBXL20 (Affinity Capture-MS), SKP1 (Two-hybrid), FBXL20 (Proximity Label-MS), FBXL20 (Proximity Label-MS), FBXL20 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, A6H779, B5DFK7, O35345, O60684, Q01730, Q15303, Q15404, Q17QS6, Q28D01, Q2HJ19, Q3ULA2, Q502M6, Q503E9, Q58DG6, Q5E9C0, Q5R3Z8, Q5R4Q7, Q5RBV0, Q5SP67, Q5SRY7, Q5XIJ5, Q5ZIN0, Q5ZJX1, Q61527, Q62956, Q67FW5, Q6DD70, Q6GL10, Q862Z2, Q8BH16, Q8C6G8, Q8N653, Q8N6D5, Q8VBX0, Q8VCV1, Q8VEG6, Q8WXK3, Q91854

Diamond homologs: A2VE78, C0HAC0, Q2YDQ5, Q3T0J1, Q58DG6, Q5R6E1, Q5XGI3, Q6INS1, Q7TPD1, Q7TSL3, Q86XK2, Q8C2S5, Q8IX29, Q96IG2, Q9CZV8, Q9QZH7, Q9QZM9, Q9UKA1, A6H779, B8M7Q5, P34284, Q13309, Q5R3Z8, Q8BH16, Q8N3Y1, Q9FLX3, Q9UKC9, A1C7E4, A1CBP8, A1DDL6, A1DHW6, A2QCU8, A2R3Z3, A4RJV3, B0XM00, B0XTS1, B6GZA1, B6Q4Z5, B6QC06, B8NGT5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

55 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3540 predictions. Top by Δscore:

Variant	Effect	Δscore
17:39261432:A:AC	donor_gain	1.0000
17:39261433:G:C	donor_gain	1.0000
17:39264173:AC:A	donor_gain	1.0000
17:39264174:CC:C	donor_gain	1.0000
17:39268823:TTA:T	donor_loss	1.0000
17:39268824:TACCT:T	donor_loss	1.0000
17:39268826:C:A	donor_loss	1.0000
17:39268869:ATT:A	acceptor_gain	1.0000
17:39268869:ATTC:A	acceptor_loss	1.0000
17:39268870:TT:T	acceptor_gain	1.0000
17:39268870:TTC:T	acceptor_loss	1.0000
17:39268872:C:A	acceptor_loss	1.0000
17:39268872:C:CC	acceptor_gain	1.0000
17:39268873:T:A	acceptor_loss	1.0000
17:39268875:CAAAG:C	acceptor_gain	1.0000
17:39268879:G:C	acceptor_gain	1.0000
17:39268879:G:GC	acceptor_gain	1.0000
17:39268883:A:T	acceptor_gain	1.0000
17:39270790:ACTT:A	donor_loss	1.0000
17:39270791:CTTA:C	donor_loss	1.0000
17:39270792:TTA:T	donor_loss	1.0000
17:39270793:TACC:T	donor_loss	1.0000
17:39270794:A:AC	donor_gain	1.0000
17:39270794:AC:A	donor_gain	1.0000
17:39270794:ACC:A	donor_gain	1.0000
17:39270794:ACCC:A	donor_loss	1.0000
17:39270795:C:CA	donor_loss	1.0000
17:39270795:C:CC	donor_gain	1.0000
17:39270795:CC:C	donor_gain	1.0000
17:39270795:CCC:C	donor_gain	1.0000

AlphaMissense

2854 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:39261532:G:C	F413L	1.000
17:39261532:G:T	F413L	1.000
17:39261533:A:C	F413C	1.000
17:39261533:A:G	F413S	1.000
17:39261534:A:G	F413L	1.000
17:39261537:A:C	Y412D	1.000
17:39261537:A:G	Y412H	1.000
17:39264211:G:C	C389W	1.000
17:39264212:C:T	C389Y	1.000
17:39264213:A:G	C389R	1.000
17:39264214:G:C	D388E	1.000
17:39264214:G:T	D388E	1.000
17:39264215:T:A	D388V	1.000
17:39264215:T:G	D388A	1.000
17:39264216:C:G	D388H	1.000
17:39264221:A:G	L386P	1.000
17:39264221:A:T	L386H	1.000
17:39264286:G:C	C364W	1.000
17:39264287:C:T	C364Y	1.000
17:39264288:A:G	C364R	1.000
17:39264289:G:C	N363K	1.000
17:39264289:G:T	N363K	1.000
17:39264290:T:A	N363I	1.000
17:39264293:T:A	D362V	1.000
17:39264293:T:G	D362A	1.000
17:39264294:C:G	D362H	1.000
17:39264296:A:G	L361P	1.000
17:39264353:C:T	G342E	1.000
17:39264354:C:G	G342R	1.000
17:39264354:C:T	G342R	1.000

dbSNP variants (sampled 300 via entrez): RS1000002468 (17:39326608 C>A,G), RS1000062449 (17:39277906 C>T), RS1000069776 (17:39397325 C>G), RS1000079000 (17:39284868 A>C,G), RS1000086825 (17:39402467 C>G,T), RS1000100471 (17:39280551 A>G), RS1000119706 (17:39312944 A>G), RS1000121380 (17:39341467 G>A,T), RS1000137931 (17:39326911 TCA>T), RS1000181639 (17:39263915 C>T), RS1000185593 (17:39270225 C>A), RS1000201855 (17:39388423 T>A), RS1000220963 (17:39260981 G>A), RS1000240781 (17:39305158 GA>G,GAA), RS1000253522 (17:39260673 T>G)

Disease associations

OMIM: gene MIM:609086 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000624_15	Ulcerative colitis	3.000000e-08
GCST003372_58	Glomerular filtration rate (creatinine)	5.000000e-15
GCST005194_83	Coronary artery disease	4.000000e-06
GCST006586_38	Urinary albumin excretion	3.000000e-08
GCST007429_158	Lung function (FVC)	7.000000e-14
GCST007432_190	FEV1	2.000000e-12
GCST007473_7	Rapid automatized naming of pictures	6.000000e-07
GCST007877_19	Creatinine levels	1.000000e-17
GCST008745_19	Estimated glomerular filtration rate in non-diabetics	4.000000e-15
GCST008790_54	Urinary albumin-to-creatinine ratio	5.000000e-10
GCST008791_7	Microalbuminuria	4.000000e-08
GCST008794_5	Urinary albumin-to-creatinine ratio	7.000000e-10
GCST008916_10	Asthma	5.000000e-09
GCST008916_45	Asthma	3.000000e-10
GCST008916_86	Asthma	2.000000e-14
GCST009640_51	Urinary albumin-to-creatinine ratio	1.000000e-08
GCST010002_123	Refractive error	1.000000e-24
GCST010083_309	Hemoglobin levels	1.000000e-11
GCST012020_474	Serum metabolite levels	3.000000e-12
GCST012020_528	Serum metabolite levels	2.000000e-17
GCST90002386_186	High light scatter reticulocyte percentage of red cells	9.000000e-13
GCST90002387_29	Immature fraction of reticulocytes	2.000000e-17
GCST90002395_255	Mean platelet volume	5.000000e-11
GCST90002396_618	Mean reticulocyte volume	2.000000e-56
GCST90002397_567	Mean spheric corpuscular volume	1.000000e-34
GCST90002402_453	Platelet count	1.000000e-09
GCST90002404_163	Red cell distribution width	4.000000e-14

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004285	albuminuria
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0005301	reading and spelling ability
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004509	hemoglobin measurement
EFO:0010701	mean reticulocyte volume
EFO:0004309	platelet count
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	6
Benzo(a)pyrene	affects methylation, decreases expression	3
bisphenol A	decreases expression, increases expression	2
sodium arsenite	affects expression, decreases expression, increases abundance	2
Cadmium	decreases expression, increases abundance	2
Cisplatin	affects expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
GSK-J4	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
testosterone undecanoate	decreases expression	1
trichostatin A	decreases expression	1
arsenite	decreases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	decreases methylation	1
resorcinol	decreases expression	1
avobenzone	increases expression	1
cylindrospermopsin	increases expression	1
CGP 52608	increases reaction, affects binding	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
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Vorinostat	decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.