FBXO28

Summary

FBXO28 (F-box protein 28, HGNC:29046) is a protein-coding gene on chromosome 1q42.11, encoding F-box only protein 28 (Q9NVF7). Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, promoting ubiquitination and proteasomal degradation of specific target proteins including TOP2A, RAB27A or itself.

Members of the F-box protein family, such as FBXO28, 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 23219 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental and epileptic encephalopathy 100 (Definitive, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 81 total — 7 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 104
• MANE Select transcript: NM_015176

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29046
Approved symbol	FBXO28
Name	F-box protein 28
Location	1q42.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10766, KIAA0483, Fbx28, CENP-30
Ensembl gene	ENSG00000143756
Ensembl biotype	protein_coding
OMIM	609100
Entrez	23219

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000366862, ENST00000424254, ENST00000483773, ENST00000519894, ENST00000523990

RefSeq mRNA: 2 — MANE Select: NM_015176 NM_001136115, NM_015176

CCDS: CCDS1539, CCDS44320

Canonical transcript exons

ENST00000366862 — 5 exons

Exon	Start	End
ENSE00000961822	224134074	224134212
ENSE00001634534	224157352	224162047
ENSE00001957764	224114111	224114396
ENSE00003506775	224130472	224130581
ENSE00003622685	224153142	224153337

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 95.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.8602 / max 130.3708, expressed in 1819 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8777	28.8602	1819

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hair follicle	UBERON:0002073	95.12	gold quality
upper leg skin	UBERON:0004262	94.43	gold quality
choroid plexus epithelium	UBERON:0003911	94.06	gold quality
skin of hip	UBERON:0001554	93.52	gold quality
endothelial cell	CL:0000115	92.90	gold quality
nephron tubule	UBERON:0001231	91.23	gold quality
calcaneal tendon	UBERON:0003701	90.82	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.74	gold quality
tibia	UBERON:0000979	90.61	gold quality
germinal epithelium of ovary	UBERON:0001304	90.24	gold quality
esophagus squamous epithelium	UBERON:0006920	90.20	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.05	gold quality
upper arm skin	UBERON:0004263	89.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.96	gold quality
biceps brachii	UBERON:0001507	89.83	gold quality
middle temporal gyrus	UBERON:0002771	89.79	gold quality
mammalian vulva	UBERON:0000997	89.75	gold quality
visceral pleura	UBERON:0002401	89.70	gold quality
secondary oocyte	CL:0000655	89.66	gold quality
pigmented layer of retina	UBERON:0001782	89.61	gold quality
palpebral conjunctiva	UBERON:0001812	89.59	gold quality
penis	UBERON:0000989	89.47	gold quality
gingival epithelium	UBERON:0001949	89.42	gold quality
squamous epithelium	UBERON:0006914	89.15	gold quality
epithelium of esophagus	UBERON:0001976	89.09	gold quality
gingiva	UBERON:0001828	88.94	gold quality
parietal pleura	UBERON:0002400	88.89	gold quality
pleura	UBERON:0000977	88.83	gold quality
kidney epithelium	UBERON:0004819	88.68	gold quality
postcentral gyrus	UBERON:0002581	88.58	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

232 targeting FBXO28, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488

Literature-anchored findings (GeneRIF, showing 11)

• Study identified F-box protein, FBXO28 that controls MYC-dependent transcription by non-proteolytic ubiquitylation. Depletion of FBXO28 or overexpression of an F-box mutant unable to support MYC ubiquitylation results in an impairment of MYC-driven transcription, transformation and tumourigenesis. (PMID:23776131)
• Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. (PMID:24357076)
• Fbxo28 regulates topoisomerase IIalpha decatenation activity and plays an important role in maintaining genomic stability. (PMID:27754753)
• Expression levels of TP53BP2, FBXO28, and FAM53A genes were associated with patient survival specifically in ER-positive, TP53-mutated tumors. (PMID:28179588)
• It was shown on human primary islets that FBXO28 improves pancreatic beta-cell survival under diabetogenic conditions without affecting insulin secretion. (PMID:29587369)
• FBXO28 is a monogenic disease gene and contributes to the complex neurodevelopmental phenotype of the 1q41-q42 gene deletion syndrome. (PMID:30160831)
• SCF(FBXO28)-mediated self-ubiquitination of FBXO28 promotes its degradation. (PMID:31678254)
• FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. (PMID:33280099)
• FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination. (PMID:37348029)
• FBXO28 suppresses liver cancer invasion and metastasis by promoting PKA-dependent SNAI2 degradation. (PMID:37596321)
• FBXO28 promotes cell proliferation, migration and invasion via upregulation of the TGF-beta1/SMAD2/3 signaling pathway in ovarian cancer. (PMID:38267923)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbxo28	ENSDARG00000027159
mus_musculus	Fbxo28	ENSMUSG00000047539
rattus_norvegicus	Fbxo28	ENSRNOG00000000066
drosophila_melanogaster	dmpd	FBGN0033486
drosophila_melanogaster	pall	FBGN0036005

Protein

Protein identifiers

F-box only protein 28 — Q9NVF7 (reviewed: Q9NVF7)

All UniProt accessions (2): Q9NVF7, B4E0H5

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, promoting ubiquitination and proteasomal degradation of specific target proteins including TOP2A, RAB27A or itself. Regulates topoisomerase IIalpha/TOP2A decatenation activity and plays an important role in maintaining genomic stability. Plays a role in lipid metabolism and inflammation through the ubiquitinated degradation of RAB27A. Strongly regulates beta-cell survival without having any significant independent effect on insulin secretion. Plays an essential role in spindle morphology and actin-based spindle migration probably through the ARPC2/ARP3 signaling pathway.

Subunit / interactions. Part of a SCF (SKP1-cullin-F-box) protein ligase complex.

Subcellular location. Chromosome. Centromere. Kinetochore. Nucleus.

Post-translational modifications. Degraded through self-ubiquitination.

Disease relevance. Developmental and epileptic encephalopathy 100 (DEE100) [MIM:619777] A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE100 is an autosomal dominant, severe form characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NVF7-1	1	yes
Q9NVF7-2	2

RefSeq proteins (2): NP_001129587, NP_055991* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001810	F-box_dom	Domain
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR039719	FBXO28	Family

Pfam: PF00646

UniProt features (22 total): sequence variant 6, compositionally biased region 6, modified residue 4, splice variant 2, region of interest 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVF7-F1	77.39	0.54

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 (4): 235, 242, 270, 344

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 406 (showing top): RNGTGGGC_UNKNOWN, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, WANG_LMO4_TARGETS_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GARY_CD5_TARGETS_DN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_SCF_DEPENDENT_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, ACEVEDO_LIVER_CANCER_UP, AACTGGA_MIR145, CETS1P54_01

GO Biological Process (1): protein polyubiquitination (GO:0000209)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): kinetochore (GO:0000776), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
protein ubiquitination	1
protein binding	1
binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
chromosomal region	1

Protein interactions and networks

STRING

1088 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBXO28	SKP1	P34991	730
FBXO28	CUL1	Q13616	714
FBXO28	KLHL28	Q9NXS3	677
FBXO28	RNF166	Q96A37	584
FBXO28	PRKN	O60260	500
FBXO28	IMPACT	Q9P2X3	489
FBXO28	ZNHIT3	Q15649	488
FBXO28	FBXO4	Q9UKT5	487
FBXO28	WDR26	Q9H7D7	479
FBXO28	FBXL14	Q8N1E6	477
FBXO28	TRPC4AP	Q8TEL6	474
FBXO28	FBXO9	Q9UK97	468
FBXO28	EMC3	Q9P0I2	454
FBXO28	FBXO45	P0C2W1	449
FBXO28	FBXO11	Q86XK2	441

IntAct

212 interactions, top by confidence:

A	B	Type	Score
SKP1	FBXO28	psi-mi:“MI:0915”(physical association)	0.940
FBXO28	SKP1	psi-mi:“MI:0915”(physical association)	0.940
PSMC3	PSMD9	psi-mi:“MI:0914”(association)	0.940
PAK2	NCK2	psi-mi:“MI:0914”(association)	0.840
NUP50	KPNA4	psi-mi:“MI:0914”(association)	0.830
CAVIN1	FBXO28	psi-mi:“MI:0915”(physical association)	0.800
GOLGA2	FBXO28	psi-mi:“MI:0915”(physical association)	0.780
FBXO28	GOLGA2	psi-mi:“MI:0915”(physical association)	0.780
TRAF2	HTRA2	psi-mi:“MI:0914”(association)	0.750
HOMER1	TRAF5	psi-mi:“MI:0914”(association)	0.740
FBXO28	TRAF5	psi-mi:“MI:0914”(association)	0.740
TRAF2	FBXO28	psi-mi:“MI:0915”(physical association)	0.740
TRAF5	FBXO28	psi-mi:“MI:0915”(physical association)	0.740
PSMC3	FBXO28	psi-mi:“MI:0915”(physical association)	0.740
PFDN4	PFDN6	psi-mi:“MI:0914”(association)	0.730
CKAP4	FBXO28	psi-mi:“MI:0914”(association)	0.730
TMED9	TMED10	psi-mi:“MI:0914”(association)	0.730
FBXO28	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.720
FBXO28	SDCBP2	psi-mi:“MI:0915”(physical association)	0.720
PLEKHF2	FBXO28	psi-mi:“MI:0915”(physical association)	0.720
SDCBP2	FBXO28	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (222): FBXO28 (Two-hybrid), FBXO28 (Two-hybrid), FBXO28 (Two-hybrid), SDCBP2 (Two-hybrid), PLEKHF2 (Two-hybrid), FBXO28 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), FBXO28 (Two-hybrid), GOLGA2 (Two-hybrid)

ESM2 similar proteins: A1L1K1, A2ARM1, A2AVJ5, A4IFC9, A7E305, G5EGQ2, O08653, O36006, O43435, O46080, O95343, P13481, P28702, P28704, P56423, P56424, P56645, P61260, P97499, Q02556, Q07820, Q2NL16, Q32N92, Q5E9R0, Q5REG4, Q5SQI0, Q5TJF7, Q5U2W6, Q5U2Y1, Q61010, Q62233, Q6MZQ0, Q80V91, Q86Y01, Q86YD1, Q8AW93, Q8BIG4, Q8HYS5, Q8N9I9, Q91VU8

Diamond homologs: Q2NL16, Q8BIG4, Q9NVF7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
“Cullin 1-RBX1-Skp1”	“down-regulates quantity by destabilization”	FBXO28	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 138 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
RHOU GTPase cycle	5	16.6×	3e-03
COPI-mediated anterograde transport	7	9.2×	3e-03
Regulation of PLK1 Activity at G2/M Transition	6	9.1×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	2
Uncertain significance	47
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1343396	NM_015176.4(FBXO28):c.972_973delinsG (p.Arg325fs)	Pathogenic
1343397	NM_015176.4(FBXO28):c.191T>G (p.Leu64Arg)	Pathogenic
1343398	NM_015176.4(FBXO28):c.1042C>G (p.Arg348Gly)	Pathogenic
1343400	NM_015176.4(FBXO28):c.1066_1067del (p.Asp356fs)	Pathogenic
1343401	NM_015176.4(FBXO28):c.1078A>T (p.Lys360Ter)	Pathogenic
2570696	NM_015176.4(FBXO28):c.1016_1017delinsT (p.Gly339fs)	Pathogenic
3377006	NM_015176.4(FBXO28):c.1027G>T (p.Glu343Ter)	Pathogenic
1335014	NM_015176.4(FBXO28):c.1073_1074del (p.Leu358fs)	Likely pathogenic
521663	NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu)	Likely pathogenic

SpliceAI

1241 predictions. Top by Δscore:

Variant	Effect	Δscore
1:224130467:T:TA	acceptor_gain	1.0000
1:224130470:AGG:A	acceptor_loss	1.0000
1:224153136:TTTTA:T	acceptor_loss	1.0000
1:224153137:TTTAG:T	acceptor_loss	1.0000
1:224153138:TTA:T	acceptor_loss	1.0000
1:224153139:TA:T	acceptor_loss	1.0000
1:224153314:G:GT	donor_gain	1.0000
1:224157350:A:AG	acceptor_gain	1.0000
1:224157351:G:GG	acceptor_gain	1.0000
1:224157625:A:T	donor_gain	1.0000
1:224157696:G:GT	donor_gain	1.0000
1:224157743:G:GG	donor_gain	1.0000
1:224114392:GCCTG:G	donor_gain	0.9900
1:224130471:GGTTT:G	acceptor_gain	0.9900
1:224130579:AAGGT:A	donor_loss	0.9900
1:224130580:AGGTA:A	donor_loss	0.9900
1:224130582:G:GA	donor_loss	0.9900
1:224153135:ATTTT:A	acceptor_loss	0.9900
1:224153141:GGT:G	acceptor_gain	0.9900
1:224153168:G:GT	acceptor_gain	0.9900
1:224153333:TCCAG:T	donor_loss	0.9900
1:224153334:CCAG:C	donor_loss	0.9900
1:224153335:CAGG:C	donor_loss	0.9900
1:224153336:AGGTA:A	donor_loss	0.9900
1:224153337:GG:G	donor_loss	0.9900
1:224153338:G:GC	donor_loss	0.9900
1:224153339:T:A	donor_loss	0.9900
1:224155788:GCACT:G	acceptor_gain	0.9900
1:224157347:CACA:C	acceptor_loss	0.9900
1:224157348:ACAGT:A	acceptor_loss	0.9900

AlphaMissense

2381 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:224114391:C:A	R88S	1.000
1:224130496:T:C	C98R	1.000
1:224130498:C:G	C98W	1.000
1:224130509:T:C	L102S	1.000
1:224130509:T:G	L102W	1.000
1:224130513:T:A	N103K	1.000
1:224130513:T:G	N103K	1.000
1:224130517:G:A	G105R	1.000
1:224130517:G:C	G105R	1.000
1:224130518:G:A	G105E	1.000
1:224130520:T:C	F106L	1.000
1:224130521:T:C	F106S	1.000
1:224130521:T:G	F106C	1.000
1:224130522:T:A	F106L	1.000
1:224130522:T:G	F106L	1.000
1:224130541:C:G	H113D	1.000
1:224130563:T:A	V120D	1.000
1:224130565:A:G	K121E	1.000
1:224130566:A:T	K121I	1.000
1:224130567:A:C	K121N	1.000
1:224130567:A:T	K121N	1.000
1:224130568:G:C	A122P	1.000
1:224130575:T:A	L124H	1.000
1:224130575:T:C	L124P	1.000
1:224130575:T:G	L124R	1.000
1:224130577:C:A	P125T	1.000
1:224130577:C:G	P125A	1.000
1:224130577:C:T	P125S	1.000
1:224130578:C:A	P125Q	1.000
1:224130578:C:G	P125R	1.000

dbSNP variants (sampled 300 via entrez): RS1000075759 (1:224137754 G>C), RS1000080002 (1:224156525 C>T), RS1000200331 (1:224113526 C>A), RS1000215925 (1:224148187 T>C), RS1000216723 (1:224120016 C>T), RS1000295131 (1:224116372 A>G), RS1000325672 (1:224116577 A>G,T), RS1000368610 (1:224126082 A>G), RS1000418515 (1:224152947 AAAAAAAG>A), RS1000485592 (1:224157740 A>G), RS1000575249 (1:224112592 C>T), RS1000579081 (1:224122274 T>C), RS1000685915 (1:224124417 A>C), RS1000718179 (1:224124738 G>A), RS1000805809 (1:224139309 T>G)

Disease associations

OMIM: gene MIM:609100 | disease phenotypes: MIM:619777

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy 100	Definitive	Autosomal dominant

Mondo (1): developmental and epileptic encephalopathy 100 (MONDO:0030695)

Orphanet (0):

HPO phenotypes

104 total (30 of 104 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000212	Gingival overgrowth
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000455	Broad nasal tip
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000549	Abnormal conjugate eye movement
HP:0000565	Esotropia
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000664	Synophrys
HP:0000668	Hypodontia
HP:0000691	Microdontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000733	Motor stereotypy
HP:0000750	Delayed speech and language development
HP:0000954	Single transverse palmar crease
HP:0001028	Hemangioma
HP:0001156	Brachydactyly
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST012292_5	Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction	2.000000e-06
GCST012298_12	Schizophrenia, bipolar disorder or major depressive disorder x sex interaction	7.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004952	disease recurrence
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
sodium arsenite	increases expression, increases abundance	2
Cadmium Chloride	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
deoxynivalenol	increases expression	1
trichostatin A	decreases expression	1
cylindrospermopsin	increases expression	1
torcetrapib	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation, decreases methylation	1
Acetaminophen	decreases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Selenium	increases expression, decreases expression, affects cotreatment	1
Smoke	decreases expression	1
Dihydrotestosterone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Vitamin E	affects cotreatment, increases expression	1
Zinc	increases expression, affects cotreatment	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0VM	Ubigene Huh-7 FBXO28 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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