FBXL19

Summary

FBXL19 (F-box and leucine rich repeat protein 19, HGNC:25300) is a protein-coding gene on chromosome 16p11.2, encoding F-box/LRR-repeat protein 19 (Q6PCT2). Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that plays a role in different processes including cell migration, cell proliferation or cytoskeletal reorganization.

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 54620 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 91 total
• Druggable target: yes
• MANE Select transcript: NM_001382779

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25300
Approved symbol	FBXL19
Name	F-box and leucine rich repeat protein 19
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434K0410, Fbl19, JHDM1C, CXXC11
Ensembl gene	ENSG00000099364
Ensembl biotype	protein_coding
OMIM	609085
Entrez	54620

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000338343, ENST00000427128, ENST00000471231, ENST00000562319, ENST00000562798, ENST00000565690, ENST00000565939, ENST00000566320

RefSeq mRNA: 5 — MANE Select: NM_001382779 NM_001099784, NM_001282351, NM_001382779, NM_001382780, NM_001382781

CCDS: CCDS45465, CCDS73873, CCDS92142

Canonical transcript exons

ENST00000338343 — 11 exons

Exon	Start	End
ENSE00000869439	30946730	30946948
ENSE00001240694	30942116	30942279
ENSE00001240731	30942375	30942536
ENSE00001484534	30928467	30928628
ENSE00001534786	30947052	30948783
ENSE00001534814	30923572	30924459
ENSE00003532923	30927573	30927659
ENSE00003590302	30927308	30927451
ENSE00003616955	30930073	30930584
ENSE00003627840	30927745	30927963
ENSE00003798339	30925731	30925931

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.1493 / max 51.8424, expressed in 1554 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153742	3.5579	1520
153743	1.5914	376

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	93.47	gold quality
superior frontal gyrus	UBERON:0002661	90.77	gold quality
prefrontal cortex	UBERON:0000451	90.69	gold quality
frontal cortex	UBERON:0001870	90.43	gold quality
primary visual cortex	UBERON:0002436	90.23	gold quality
anterior cingulate cortex	UBERON:0009835	90.23	gold quality
right frontal lobe	UBERON:0002810	90.15	gold quality
cerebral cortex	UBERON:0000956	89.57	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.19	gold quality
right testis	UBERON:0004534	88.85	gold quality
lower esophagus mucosa	UBERON:0035834	88.59	gold quality
left testis	UBERON:0004533	88.43	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.89	gold quality
temporal lobe	UBERON:0001871	87.87	gold quality
testis	UBERON:0000473	87.82	gold quality
Ammon’s horn	UBERON:0001954	87.82	gold quality
ganglionic eminence	UBERON:0004023	87.78	gold quality
amygdala	UBERON:0001876	87.76	gold quality
brain	UBERON:0000955	86.42	gold quality
putamen	UBERON:0001874	86.29	gold quality
nucleus accumbens	UBERON:0001882	86.24	gold quality
caudate nucleus	UBERON:0001873	85.77	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.31	gold quality
hypothalamus	UBERON:0001898	83.88	gold quality
cerebellum	UBERON:0002037	83.75	gold quality
cerebellar cortex	UBERON:0002129	83.64	gold quality
cerebellar hemisphere	UBERON:0002245	83.64	gold quality
esophagus mucosa	UBERON:0002469	83.30	gold quality
mucosa of transverse colon	UBERON:0004991	83.28	gold quality
ventricular zone	UBERON:0003053	82.58	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.88

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• Collectively these data unveil that FBXL19 functions as an antagonist of Rac3 by regulating its stability and regulates the TGFbeta1-induced E-cadherin down-regulation. (PMID:24684802)
• Long noncoding RNA FBXL19-AS1 induces tumor growth and metastasis by sponging miR-203a-3p in lung adenocarcinoma. (PMID:31566718)
• FBXL19AS1 promotes the progression of nasopharyngeal carcinoma by acting as a competing endogenous RNA to sponge miR431 and upregulate PBOV1. (PMID:34278444)

Cross-species orthologs

37 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbxl6	ENSDARG00000077227
danio_rerio	si:ch73-173p19.1	ENSDARG00000089075
danio_rerio	si:ch211-214j8.12	ENSDARG00000092556
danio_rerio	zgc:158376	ENSDARG00000103362
mus_musculus	Fbxl19	ENSMUSG00000030811
rattus_norvegicus	Fbxl19	ENSRNOG00000018986
drosophila_melanogaster	CG15056	FBGN0030918
drosophila_melanogaster	jet	FBGN0031652
drosophila_melanogaster	CG9316	FBGN0032878
drosophila_melanogaster	CG8272	FBGN0033337
drosophila_melanogaster	CG9003	FBGN0033639
drosophila_melanogaster	Skp2	FBGN0037236
drosophila_melanogaster	Fbxl7	FBGN0038385
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		WBGENE00011331
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), FBXL15 (ENSG00000107872), 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 19 — Q6PCT2 (reviewed: Q6PCT2)

Alternative names: F-box and leucine-rich repeat protein 19

All UniProt accessions (8): Q6PCT2, H3BME1, H3BPI8, H3BPZ0, H3BQP6, H3BTJ3, H3BVB1, H7C112

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that plays a role in different processes including cell migration, cell proliferation or cytoskeletal reorganization. Mediates RHOA ubiquitination and degradation in a ERK2-dependent manner. Induces RAC1 and RAC3 degradation by the proteasome system and thereby regulates TGFB1-induced E-cadherin down-regulation and cell migration. Also mediates ubiquitination and degradation of IL-33-induced receptor IL1RL1 and subsequently blocks IL-33-mediated apoptosis. Within the nucleus, binds to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. Recruits CDK-mediator to chromatin and targets CDK8 to promoters of silent developmental genes leading to induction of these genes during cell differentiation. In addition, plays a critical role in the recruitment of RNF20 to histone H2B leading to H2B mono-ubiquitination.

Subunit / interactions. Directly interacts with SKP1 and CUL1. Interacts with RNF20.

Subcellular location. Cytoplasm. Nucleus.

Post-translational modifications. Acetylated by CREBBP; leading to ubiquitination and subsequent proteasomal degradation. Ubiquitinated; leading to proteasomal degradation.

Domain organisation. The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6PCT2-1	1	yes
Q6PCT2-2	2
Q6PCT2-3	3

RefSeq proteins (5): NP_001093254, NP_001269280, NP_001369708, NP_001369709, NP_001369710 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001810	F-box_dom	Domain
IPR001965	Znf_PHD	Domain
IPR002857	Znf_CXXC	Domain
IPR006553	Leu-rich_rpt_Cys-con_subtyp	Repeat
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050690	JHDM1_Histone_Demethylase	Family

Pfam: PF02008, PF12937, PF16866

UniProt features (47 total): binding site 16, helix 7, repeat 6, compositionally biased region 5, strand 3, region of interest 2, splice variant 2, turn 2, zinc finger region 2, chain 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6ASB	X-RAY DIFFRACTION	2.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PCT2-F1	67.59	0.29

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (16): 39; 42; 45; 50; 53; 56; 72; 77; 88; 91; 114; 117 …

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: 161 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GSE45365_NK_CELL_VS_BCELL_DN, PAX4_01, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, ATACCTC_MIR202, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, SP1_Q2_01, CATRRAGC_UNKNOWN, TGCTGAY_UNKNOWN, chr16p11, HP1SITEFACTOR_Q6, LYF1_01

GO Biological Process (4): chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), cell migration (GO:0016477)

GO Molecular Function (8): transcription coregulator activity (GO:0003712), zinc ion binding (GO:0008270), histone demethylase activity (GO:0032452), unmethylated CpG binding (GO:0045322), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), 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
chromatin organization	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
cell motility	1
transcription regulator activity	1
transition metal ion binding	1
protein demethylase activity	1
histone modifying activity	1
sequence-specific DNA binding	1
enzyme-substrate adaptor activity	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

1956 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXL19	SKP1	P34991	900
FBXL19	CUL1	Q13616	857
FBXL19	FBXW7	Q969H0	651
FBXL19	TRAF3IP2	O43734	581
FBXL19	LCE3B	Q5TA77	571
FBXL19	PRSS53	Q2L4Q9	526
FBXL19	TNIP1	Q15025	480
FBXL19	RNF114	Q9Y508	479
FBXL19	LCE3C	Q5T5A8	479
FBXL19	IL33	O95760	453
FBXL19	PRR14	Q9BWN1	441
FBXL19	ERAP1	Q9NZ08	423
FBXL19	IL23R	Q5VWK5	417
FBXL19	ZNF816	Q0VGE8	406
FBXL19	TNFAIP3	P21580	400

IntAct

40 interactions, top by confidence:

A	B	Type	Score
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
MED10	MED14	psi-mi:“MI:0914”(association)	0.830
MED20	MED14	psi-mi:“MI:0914”(association)	0.640
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
MED29	POLR2D	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
FBXL19	MED19	psi-mi:“MI:0914”(association)	0.530
PSME3	HTRA2	psi-mi:“MI:0914”(association)	0.530
Il1rl1	FBXL19	psi-mi:“MI:0915”(physical association)	0.520
FBXL19	Il1rl1	psi-mi:“MI:0915”(physical association)	0.520
CUL1	Il1rl1	psi-mi:“MI:0220”(ubiquitination reaction)	0.440
FBXL19	DHRS2	psi-mi:“MI:0915”(physical association)	0.400
FBXL19	GGH	psi-mi:“MI:0915”(physical association)	0.400
	FBXL19	psi-mi:“MI:0915”(physical association)	0.400
TRIM29	FBXL19	psi-mi:“MI:0915”(physical association)	0.370
TRIM27	FBXL19	psi-mi:“MI:0915”(physical association)	0.370
CBFA2T2	FBXL19	psi-mi:“MI:0915”(physical association)	0.370
FBXL19	S100A9	psi-mi:“MI:0914”(association)	0.350
MED19	CLIC1	psi-mi:“MI:0914”(association)	0.350
PSME3	C11orf98	psi-mi:“MI:0914”(association)	0.350
RPS11	SCAMP1	psi-mi:“MI:0914”(association)	0.350
MED17	PPIAL4C	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
PSME3	ZNF891	psi-mi:“MI:0914”(association)	0.350
KCNE3	PIK3R2	psi-mi:“MI:0914”(association)	0.350
SKP1	BHLHE40	psi-mi:“MI:0914”(association)	0.350
FBXL19	CASK	psi-mi:“MI:0914”(association)	0.350

BioGRID (131): FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), HELZ (Affinity Capture-MS), SKP1 (Affinity Capture-Western)

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A2R8YCJ5, A2A699, A2AEV7, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NL88, A8MVW0, A9JSM3, B2RU40, B8ZZ34, C9JH25, D4A9R4, J3QNX5, P0CG09, P98077, Q0VD38, Q14761, Q17QH7, Q29RK8, Q2KJ18, Q2M3V2, Q3SX20, Q5BJT1, Q5HZJ5, Q5RKR3, Q5T442, Q64697, Q69YZ2, Q6PB97, Q6PCT2, Q6UXK2, Q6ZMQ8, Q6ZVH7, Q6ZW31, Q80XF7, Q8BLS7

Diamond homologs: A1A5X2, Q13309, Q5BJ29, Q6PB97, Q6PCT2, Q9EPX5, Q9NXK8, Q9QZN1, Q9UJT9, Q9Z0Z3, E6ZGB4, O75151, O94603, P0CF52, P0CH95, P0CO40, P0CO41, P40034, P59997, Q08D35, Q27746, Q3UWM4, Q4P5U1, Q4WHB7, Q5A847, Q5AW75, Q5RHD1, Q5U263, Q60V67, Q640I9, Q6BXJ4, Q6C423, Q6CIC9, Q6FPL6, Q6P1G2, Q6P949, Q6ZMT4, Q75AL5, Q80TJ7, Q8NHM5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 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
Respiratory Syncytial Virus Infection Pathway	7	40.5×	6e-08
RSV-host interactions	7	32.2×	1e-07
Adipogenesis	7	32.2×	1e-07
Regulation of lipid metabolism by PPARalpha	7	29.0×	2e-07
Transcriptional regulation of white adipocyte differentiation	7	26.7×	3e-07
PPARA activates gene expression	7	19.4×	2e-06
Viral Infection Pathways	12	10.9×	6e-08
Infectious disease	12	8.8×	2e-07

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	7	51.4×	1e-08
RNA polymerase II preinitiation complex assembly	7	46.4×	1e-08
positive regulation of transcription initiation by RNA polymerase II	7	46.4×	1e-08
establishment of localization in cell	5	19.6×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1817 predictions. Top by Δscore:

Variant	Effect	Δscore
16:30925927:CTGCC:C	donor_gain	1.0000
16:30925928:TGCC:T	donor_gain	1.0000
16:30925929:GCC:G	donor_gain	1.0000
16:30925929:GCCG:G	donor_gain	1.0000
16:30925930:CC:C	donor_gain	1.0000
16:30925931:CGTGA:C	donor_loss	1.0000
16:30925932:G:GG	donor_gain	1.0000
16:30925932:G:T	donor_loss	1.0000
16:30925933:TGAGT:T	donor_loss	1.0000
16:30927307:GCCC:G	acceptor_gain	1.0000
16:30927571:AGATG:A	acceptor_gain	1.0000
16:30927572:GATGG:G	acceptor_gain	1.0000
16:30927642:G:GT	donor_gain	1.0000
16:30927657:AAGG:A	donor_loss	1.0000
16:30927658:AGGT:A	donor_loss	1.0000
16:30927660:GTAGG:G	donor_loss	1.0000
16:30927661:T:G	donor_loss	1.0000
16:30927923:A:T	donor_gain	1.0000
16:30942105:A:AG	acceptor_gain	1.0000
16:30942105:AT:A	acceptor_gain	1.0000
16:30942105:ATG:A	acceptor_gain	1.0000
16:30942106:T:A	acceptor_gain	1.0000
16:30942106:T:G	acceptor_gain	1.0000
16:30942107:G:A	acceptor_gain	1.0000
16:30942110:C:A	acceptor_gain	1.0000
16:30942115:GGT:G	acceptor_gain	1.0000
16:30942280:GTA:G	donor_loss	1.0000
16:30942373:A:AG	acceptor_gain	1.0000
16:30942374:G:A	acceptor_loss	1.0000
16:30942374:G:GA	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000044858 (16:30928291 G>A), RS1000077830 (16:30935999 C>A,G), RS1000380719 (16:30943169 C>G), RS1000474124 (16:30931061 CT>C), RS1000489874 (16:30939111 A>G,T), RS1000543537 (16:30938858 C>A), RS1000545881 (16:30931262 C>T), RS1000603447 (16:30921682 A>G), RS1000703506 (16:30946571 G>A), RS1000940382 (16:30933036 T>C), RS1000948912 (16:30944644 C>T), RS1001061341 (16:30937248 C>G,T), RS1001101368 (16:30925116 A>C,G), RS1001257433 (16:30936494 C>T), RS1001274930 (16:30943141 A>C)

Disease associations

OMIM: gene MIM:609085 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000834_4	Psoriasis	9.000000e-10
GCST002738_4	Psoriasis	3.000000e-07
GCST002874_54	Psoriasis	2.000000e-08
GCST002874_60	Psoriasis	8.000000e-07
GCST003268_13	Psoriasis vulgaris	5.000000e-11
GCST003270_11	Psoriatic arthritis	9.000000e-06
GCST004280_34	Diastolic blood pressure	6.000000e-09
GCST004602_306	Mean corpuscular volume	2.000000e-11
GCST005527_17	Psoriasis	1.000000e-16
GCST006291_45	Spherical equivalent or myopia (age of diagnosis)	7.000000e-12
GCST007094_209	Diastolic blood pressure	4.000000e-09
GCST007096_5	Pulse pressure	9.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:1001494	psoriasis vulgaris
EFO:0006336	diastolic blood pressure
EFO:0004847	age at onset
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169165 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10782001	Toxicity	3	Tumor necrosis factor alpha (TNF-alpha) inhibitors	Psoriasis

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10782001	FBXL19	3	2.50	1	Tumor necrosis factor alpha (TNF-alpha) inhibitors

ChEMBL bioactivities

5 potent at pChembl≥5 of 9 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.75	IC50	1800	nM	CHEMBL5194845
5.62	IC50	2400	nM	CHEMBL5189434
5.58	IC50	2600	nM	CHEMBL5181110
5.51	IC50	3100	nM	CHEMBL5177921
5.05	IC50	8900	nM	CHEMBL5178563

PubChem BioAssay actives

5 with measured affinity, of 9 total; 5 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-phenyl-1-prop-2-enoylpiperidine-4-carboxylic acid	1871103: Inhibition of GST-tagged human FBXL19 (31 to 86 residues) expressed in Escherichia coli BL21 cells incubated for 30 mins by fluorescence polarization assay	ic50	1.8000	uM
4-(4-ethoxyphenyl)-1-prop-2-enoylpiperidine-4-carboxylic acid	1871103: Inhibition of GST-tagged human FBXL19 (31 to 86 residues) expressed in Escherichia coli BL21 cells incubated for 30 mins by fluorescence polarization assay	ic50	2.4000	uM
1-[4-(3-ethoxyphenyl)-4-(2H-tetrazol-5-yl)piperidin-1-yl]prop-2-en-1-one	1871103: Inhibition of GST-tagged human FBXL19 (31 to 86 residues) expressed in Escherichia coli BL21 cells incubated for 30 mins by fluorescence polarization assay	ic50	2.6000	uM
1-[4-phenyl-4-(2H-tetrazol-5-yl)piperidin-1-yl]prop-2-en-1-one	1871103: Inhibition of GST-tagged human FBXL19 (31 to 86 residues) expressed in Escherichia coli BL21 cells incubated for 30 mins by fluorescence polarization assay	ic50	3.1000	uM
1-[4-(4-methoxyphenyl)-4-(2H-tetrazol-5-yl)piperidin-1-yl]prop-2-en-1-one	1871103: Inhibition of GST-tagged human FBXL19 (31 to 86 residues) expressed in Escherichia coli BL21 cells incubated for 30 mins by fluorescence polarization assay	ic50	8.9000	uM

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases oxidation, affects expression, affects cotreatment	2
Ozone	affects cotreatment, increases oxidation, increases abundance, affects expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
cupric oxide	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
di-n-butylphosphoric acid	affects expression	1
excavatolide B	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5126414	Binding	Inhibition of GST-tagged human FBXL19 (31 to 86 residues) expressed in Escherichia coli BL21 cells incubated for 30 mins by fluorescence polarization assay	Small-Molecule Inhibitors of the MLL1 CXXC Domain, an Epigenetic Reader of DNA Methylation. — ACS Med Chem Lett

Clinical trials (associated diseases)

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