ACOX3

Summary

ACOX3 (acyl-CoA oxidase 3, pristanoyl, HGNC:121) is a protein-coding gene on chromosome 4p16.1, encoding Peroxisomal acyl-coenzyme A oxidase 3 (O15254). Oxidizes the CoA-esters of 2-methyl-branched fatty acids.

Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined.

Source: NCBI Gene 8310 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 208 total — 1 pathogenic
• Druggable target: yes — 3 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_003501

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:121
Approved symbol	ACOX3
Name	acyl-CoA oxidase 3, pristanoyl
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000087008
Ensembl biotype	protein_coding
OMIM	603402
Entrez	8310

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 35 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000356406, ENST00000413009, ENST00000503233, ENST00000508302, ENST00000510365, ENST00000512411, ENST00000514423, ENST00000515797, ENST00000895405, ENST00000895406, ENST00000895407, ENST00000895408, ENST00000895409, ENST00000895410, ENST00000895411, ENST00000895412, ENST00000895413, ENST00000895414, ENST00000895415, ENST00000895416, ENST00000895417, ENST00000895418, ENST00000923762, ENST00000923763, ENST00000923764, ENST00000923765, ENST00000923766, ENST00000952626, ENST00000952627, ENST00000952628, ENST00000952629, ENST00000952630, ENST00000952631, ENST00000952632, ENST00000952633, ENST00000952634, ENST00000952635, ENST00000952636, ENST00000952637

RefSeq mRNA: 10 — MANE Select: NM_003501 NM_001101667, NM_001375783, NM_001375784, NM_001375785, NM_001375786, NM_001375787, NM_001375788, NM_001375789, NM_001375790, NM_003501

CCDS: CCDS3401, CCDS47017

Canonical transcript exons

ENST00000356406 — 18 exons

Exon	Start	End
ENSE00000852401	8416378	8416535
ENSE00001020000	8374978	8375152
ENSE00001376827	8440648	8440723
ENSE00001693940	8366282	8367080
ENSE00003473438	8394620	8394742
ENSE00003475942	8399556	8399652
ENSE00003483876	8415766	8415999
ENSE00003519221	8414854	8414928
ENSE00003531069	8389173	8389286
ENSE00003570741	8410212	8410355
ENSE00003588305	8405955	8406043
ENSE00003591585	8389612	8389734
ENSE00003603428	8396937	8397119
ENSE00003611567	8381492	8381607
ENSE00003641968	8414292	8414381
ENSE00003672075	8373561	8373628
ENSE00003683861	8392333	8392453
ENSE00003694455	8370908	8370994

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 97.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.2607 / max 83.9531, expressed in 1796 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51329	7.2239	1773
51331	3.1573	1505
51328	0.8795	511

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	97.16	gold quality
esophagus mucosa	UBERON:0002469	91.47	gold quality
esophagus squamous epithelium	UBERON:0006920	89.36	gold quality
esophagus	UBERON:0001043	89.02	gold quality
squamous epithelium	UBERON:0006914	88.87	gold quality
pancreatic ductal cell	CL:0002079	88.63	gold quality
cervix squamous epithelium	UBERON:0006922	88.30	silver quality
gingival epithelium	UBERON:0001949	88.21	gold quality
right atrium auricular region	UBERON:0006631	87.63	gold quality
apex of heart	UBERON:0002098	87.28	gold quality
right lobe of liver	UBERON:0001114	87.17	gold quality
epithelium of esophagus	UBERON:0001976	87.11	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.05	gold quality
skin of leg	UBERON:0001511	86.76	gold quality
lower esophagus	UBERON:0013473	86.55	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.48	gold quality
skin of abdomen	UBERON:0001416	86.22	gold quality
minor salivary gland	UBERON:0001830	86.17	gold quality
sural nerve	UBERON:0015488	86.06	gold quality
vagina	UBERON:0000996	85.98	gold quality
gingiva	UBERON:0001828	85.68	gold quality
mouth mucosa	UBERON:0003729	85.63	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.59	gold quality
body of pancreas	UBERON:0001150	85.53	gold quality
cardiac atrium	UBERON:0002081	85.53	gold quality
mucosa of transverse colon	UBERON:0004991	84.92	gold quality
body of stomach	UBERON:0001161	84.58	gold quality
stromal cell of endometrium	CL:0002255	84.53	gold quality
saliva-secreting gland	UBERON:0001044	84.49	gold quality
ascending aorta	UBERON:0001496	84.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting ACOX3, 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-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-4326	98.97	67.63	962
HSA-MIR-4464	98.95	67.73	820
HSA-MIR-4748	98.95	67.53	810
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-3074-5P	98.82	66.56	1414
HSA-MIR-4501	98.72	67.19	921
HSA-MIR-5087	98.01	69.09	965
HSA-MIR-12127	97.93	66.67	793
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-4675	97.69	64.82	774
HSA-MIR-4741	97.69	64.14	883
HSA-MIR-379-5P	97.52	67.81	485
HSA-MIR-4732-3P	97.15	65.45	881
HSA-MIR-3529-5P	97.12	67.06	440
HSA-MIR-617	96.79	65.96	738
HSA-MIR-4701-5P	96.45	68.41	1121

Literature-anchored findings (GeneRIF, showing 2)

• ACOX3, which is expressed at extremely low level in other human organs studied including the liver, might contribute significantly to peroxisomal branched chain fatty acid beta-oxidation in human prostate tissue and some prostate cancer cell lines (PMID:15599942)
• ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery. (PMID:31975215)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	acox3	ENSDARG00000038865
mus_musculus	Acox3	ENSMUSG00000029098
rattus_norvegicus	Acox3	ENSRNOG00000008474
drosophila_melanogaster	Acox3	FBGN0031813
caenorhabditis_elegans		WBGENE00019060

Paralogs (14): ACADVL (ENSG00000072778), GCDH (ENSG00000105607), ACAD10 (ENSG00000111271), ACADL (ENSG00000115361), ACADM (ENSG00000117054), ACADS (ENSG00000122971), IVD (ENSG00000128928), ACAD8 (ENSG00000151498), ACOXL (ENSG00000153093), ACOX1 (ENSG00000161533), ACOX2 (ENSG00000168306), ACAD9 (ENSG00000177646), ACADSB (ENSG00000196177), ACAD11 (ENSG00000240303)

Protein

Protein identifiers

Peroxisomal acyl-coenzyme A oxidase 3 — O15254 (reviewed: O15254)

Alternative names: Branched-chain acyl-CoA oxidase, Pristanoyl-CoA oxidase

All UniProt accessions (2): O15254, D6RJ89

UniProt curated annotations — full annotation on UniProt →

Function. Oxidizes the CoA-esters of 2-methyl-branched fatty acids.

Subcellular location. Peroxisome.

Pathway. Lipid metabolism; peroxisomal fatty acid beta-oxidation.

Similarity. Belongs to the acyl-CoA oxidase family.

Isoforms (2)

UniProt ID	Names	Canonical?
O15254-1	1	yes
O15254-2	2

RefSeq proteins (10): NP_001095137, NP_001362712, NP_001362713, NP_001362714, NP_001362715, NP_001362716, NP_001362717, NP_001362718, NP_001362719, NP_003492* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002655	Acyl-CoA_oxidase_C	Domain
IPR006091	AcylCoA_DH/ox_M	Domain
IPR009100	AcylCoA_DH/oxidase_NM_dom_sf	Homologous_superfamily
IPR012258	Acyl-CoA_oxidase	Family
IPR034171	ACO	Family
IPR036250	AcylCo_DH-like_C	Homologous_superfamily
IPR046373	Acyl-CoA_Oxase/DH_mid-dom_sf	Homologous_superfamily
IPR055060	ACOX_C_alpha1	Domain

Pfam: PF01756, PF02770, PF22924

Catalyzed reactions (Rhea), 5 shown:

• a 2,3-saturated acyl-CoA + O2 = a (2E)-enoyl-CoA + H2O2 (RHEA:38959)
• hexadecanoyl-CoA + O2 = (2E)-hexadecenoyl-CoA + H2O2 (RHEA:40167)
• hexadecanedioyl-CoA + O2 = (2E)-hexadecenedioyl-CoA + H2O2 (RHEA:40275)
• tetracosanoyl-CoA + O2 = (2E)-tetracosenoyl-CoA + H2O2 (RHEA:40319)
• (2S)-pristanoyl-CoA + O2 = (2E)-pristenoyl-CoA + H2O2 (RHEA:40459)

UniProt features (14 total): sequence conflict 5, modified residue 2, splice variant 2, sequence variant 2, initiator methionine 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15254-F1	94.43	0.87

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): 2, 281

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-389887	Beta-oxidation of pristanoyl-CoA
R-HSA-9033241	Peroxisomal protein import
R-HSA-1430728	Metabolism
R-HSA-390918	Peroxisomal lipid metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8978868	Fatty acid metabolism
R-HSA-9609507	Protein localization

MSigDB gene sets: 162 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_OXIDASE, BLALOCK_ALZHEIMERS_DISEASE_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, KEGG_PPAR_SIGNALING_PATHWAY, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, chr4p16, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS

GO Biological Process (4): fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), fatty acid beta-oxidation (GO:0006635)

GO Molecular Function (7): fatty acid binding (GO:0005504), pristanoyl-CoA oxidase activity (GO:0016402), flavin adenine dinucleotide binding (GO:0050660), FAD binding (GO:0071949), acyl-CoA oxidase activity (GO:0003997), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)

GO Cellular Component (4): peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Peroxisomal lipid metabolism	1
Protein localization	1
Fatty acid metabolism	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
fatty acid beta-oxidation	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
lipid binding	1
monocarboxylic acid binding	1
acyl-CoA oxidase activity	1
nucleotide binding	1
anion binding	1
flavin adenine dinucleotide binding	1
oxidoreductase activity, acting on the CH-CH group of donors, oxygen as acceptor	1
catalytic activity	1
oxidoreductase activity	1
microbody	1
peroxisome	1
microbody lumen	1
cytoplasm	1

Protein interactions and networks

STRING

2510 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACOX3	ACAA1	P09110	918
ACOX3	EHHADH	Q08426	885
ACOX3	PEX5	P50542	874
ACOX3	ECHS1	P30084	839
ACOX3	HADHB	P55084	837
ACOX3	HSD17B4	P51659	830
ACOX3	PPARA	Q07869	821
ACOX3	AASDH	Q4L235	773
ACOX3	ACAA2	P42765	772
ACOX3	ABCD3	P28288	741
ACOX3	ACADM	P11310	724
ACOX3	PPARD	Q03181	713
ACOX3	SCD	O00767	713
ACOX3	PEX19	P40855	713
ACOX3	CPT1A	P50416	703

IntAct

24 interactions, top by confidence:

A	B	Type	Score
FKBP6	EEF2K	psi-mi:“MI:0914”(association)	0.530
ACOX3	DNAJA4	psi-mi:“MI:0915”(physical association)	0.400
ACOX3	SMURF2	psi-mi:“MI:0915”(physical association)	0.370
	TBKBP1	psi-mi:“MI:0914”(association)	0.350
	AHRR	psi-mi:“MI:0914”(association)	0.350
	AURKA	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
C1QA	MANBA	psi-mi:“MI:0914”(association)	0.350
BACH2	ENC1	psi-mi:“MI:0914”(association)	0.350
MTSS2	CHEK1	psi-mi:“MI:0914”(association)	0.350
RALY	CASC3	psi-mi:“MI:0914”(association)	0.350
TMEM150A	ACOX3	psi-mi:“MI:0914”(association)	0.350
MICU2	ACOX3	psi-mi:“MI:0914”(association)	0.350
ACOX3	PEX19	psi-mi:“MI:0914”(association)	0.350
SURF6	GTPBP10	psi-mi:“MI:0914”(association)	0.350
PAAT	HIP1	psi-mi:“MI:0914”(association)	0.350
FAM133A	DNM1L	psi-mi:“MI:0914”(association)	0.350
EPB41L5	LIN7A	psi-mi:“MI:0914”(association)	0.350
TMEM69	ACOX3	psi-mi:“MI:0914”(association)	0.350
ARHGEF7	ACOX3	psi-mi:“MI:0914”(association)	0.350
RALY	ACOX3	psi-mi:“MI:0914”(association)	0.350
CAT	VWA8	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (50): ACOX3 (Affinity Capture-MS), ACOX3 (Affinity Capture-MS), ACOX3 (Affinity Capture-MS), ACOX3 (Affinity Capture-MS), ACOX3 (Affinity Capture-MS), ACOX3 (Affinity Capture-MS), YTHDF1 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), CENPH (Affinity Capture-MS), HAUS7 (Affinity Capture-MS), ACOX3 (Proximity Label-MS), ACOX3 (Affinity Capture-RNA), ACOX3 (Affinity Capture-RNA), ACOX3 (Affinity Capture-MS), ACOX3 (Affinity Capture-MS)

ESM2 similar proteins: A6QNM8, D3ZX08, H9TB17, H9TB18, H9TB19, O02767, O15254, O62137, O62138, O62139, O62140, O64894, O65201, O65202, O74934, O74935, O74936, P06598, P07872, P08790, P0CZ23, P11356, P34355, P97562, Q00468, Q14CH7, Q15067, Q20992, Q3SZP5, Q5QE78, Q5RAU0, Q5RC19, Q5SGK3, Q63448, Q6BRD5, Q6JQN1, Q756A9, Q7KML2, Q8HYL8, Q8K370

Diamond homologs: O02767, O15254, O62137, O62138, O62139, O62140, O64894, O65201, O65202, O74934, O74935, O74936, P07872, P34355, P97562, Q15067, Q3SZP5, Q54GQ6, Q5RAU0, Q5RC19, Q63448, Q6FY63, Q7KML2, Q8HYL8, Q99424, Q9EPL9, Q9NUZ1, Q9QXD1, Q9R0H0, Q9Z1N0, Q9ZQP2, P0CZ23, Q20992, Q756A9, Q9DBS4, Q9LMI7, P06598, P08790, Q6BRD5, Q8HXX8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	154
Likely benign	22
Benign	12

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	Pathogenic

SpliceAI

4170 predictions. Top by Δscore:

Variant	Effect	Δscore
4:8381608:C:CC	acceptor_gain	1.0000
4:8381611:C:CT	acceptor_gain	1.0000
4:8381612:G:T	acceptor_gain	1.0000
4:8381623:C:CT	acceptor_gain	1.0000
4:8381624:A:T	acceptor_gain	1.0000
4:8389610:A:C	donor_loss	1.0000
4:8389611:C:CA	donor_loss	1.0000
4:8389730:GTTCA:G	acceptor_gain	1.0000
4:8389731:TTCA:T	acceptor_gain	1.0000
4:8389732:TCA:T	acceptor_gain	1.0000
4:8389732:TCACT:T	acceptor_loss	1.0000
4:8389733:CA:C	acceptor_gain	1.0000
4:8389733:CAC:C	acceptor_gain	1.0000
4:8389734:ACTG:A	acceptor_loss	1.0000
4:8389735:C:CC	acceptor_gain	1.0000
4:8389736:T:A	acceptor_loss	1.0000
4:8392331:A:AC	donor_gain	1.0000
4:8392332:C:CC	donor_gain	1.0000
4:8392332:CTGG:C	donor_gain	1.0000
4:8392472:A:T	acceptor_gain	1.0000
4:8394738:CATTG:C	acceptor_gain	1.0000
4:8394740:TTG:T	acceptor_gain	1.0000
4:8396923:TGAAA:T	donor_gain	1.0000
4:8396933:ATAC:A	donor_loss	1.0000
4:8396936:C:CG	donor_loss	1.0000
4:8396936:CCTG:C	donor_gain	1.0000
4:8396950:TCAAG:T	donor_gain	1.0000
4:8396951:CAAGC:C	donor_gain	1.0000
4:8396952:AAG:A	donor_gain	1.0000
4:8396952:AAGCA:A	donor_gain	1.0000

AlphaMissense

4531 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:8392365:C:G	R423P	0.992
4:8414370:A:C	C155W	0.991
4:8396985:A:C	F336L	0.989
4:8396985:A:T	F336L	0.989
4:8396987:A:G	F336L	0.989
4:8406039:C:G	R231P	0.989
4:8397006:G:C	F329L	0.988
4:8397006:G:T	F329L	0.988
4:8397008:A:G	F329L	0.988
4:8399649:G:C	F260L	0.988
4:8399649:G:T	F260L	0.988
4:8399651:A:G	F260L	0.988
4:8410280:C:G	A207P	0.987
4:8392360:C:G	A425P	0.986
4:8414374:C:T	G154E	0.986
4:8414356:T:A	E160V	0.984
4:8392344:C:T	G430D	0.982
4:8392369:A:G	C422R	0.982
4:8392409:C:A	K408N	0.982
4:8392409:C:G	K408N	0.982
4:8410288:G:T	A204D	0.980
4:8399641:A:G	F263S	0.979
4:8414314:G:T	A174D	0.979
4:8410267:G:T	A211D	0.978
4:8410345:A:T	I185K	0.978
4:8410351:A:G	F183S	0.978
4:8392367:G:C	C422W	0.976
4:8414315:C:G	A174P	0.976
4:8410302:G:C	N199K	0.975
4:8410302:G:T	N199K	0.975

dbSNP variants (sampled 300 via entrez): RS1000027635 (4:8384550 T>C), RS1000049077 (4:8377116 C>T), RS1000159529 (4:8411868 C>G), RS1000164101 (4:8429063 C>T), RS1000183891 (4:8436323 G>T), RS1000199904 (4:8373209 G>A), RS1000216088 (4:8428718 C>G,T), RS10002212 (4:8360050 G>A,T), RS1000228528 (4:8402174 C>A,G,T), RS10002453 (4:8389975 T>A), RS1000283624 (4:8397431 C>G,T), RS10003554 (4:8380932 A>T), RS1000356628 (4:8397630 C>G,T), RS1000362086 (4:8355043 T>C), RS1000391877 (4:8431403 C>T)

Disease associations

OMIM: gene MIM:603402 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001095_5	Response to antineoplastic agents	8.000000e-07
GCST008361_3	Response to cognitive-behavioural therapy in major depressive disorder	2.000000e-06
GCST90014033_28	Haemorrhoidal disease	4.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105817 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

3 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 8,545 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1738797	ALECTINIB	4	6,731
CHEMBL1738757	REBASTINIB	2	1,478
CHEMBL482767	SNS-314	1	336

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

ChEMBL bioactivities

6 potent at pChembl≥5 of 7 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.45	Kd	3.538	nM	CHEMBL3752910
8.27	ED50	5.329	nM	CHEMBL3752910
7.58	Kd	26	nM	SNS-314
5.58	Kd	2602	nM	ALECTINIB
5.33	Kd	4733	nM	CHEMBL5653589
5.15	ED50	7129	nM	CHEMBL5653589

PubChem BioAssay actives

4 with measured affinity, of 245 total; 4 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-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147787: Binding affinity to human ACOX3 incubated for 45 mins by Kinobead based pull down assay	kd	0.0035	uM
1-(3-chlorophenyl)-3-[5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)ethyl]-1,3-thiazol-2-yl]urea	1424896: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.0260	uM
Alectinib	1424896: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	2.6020	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147787: Binding affinity to human ACOX3 incubated for 45 mins by Kinobead based pull down assay	kd	4.7333	uM

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression, affects methylation	3
bisphenol A	increases expression	2
Acetaminophen	decreases expression, affects response to substance	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Aflatoxin B1	increases methylation, decreases methylation	2
bisphenol F	increases expression	1
methylmercuric chloride	decreases expression	1
lasiocarpine	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	increases reaction, affects binding	1
obeticholic acid	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Dimethyl Sulfoxide	increases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methapyrilene	decreases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Valproic Acid	decreases expression, decreases methylation	1
Cyclosporine	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3991609	Binding	Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by ma	The target landscape of clinical kinase drugs. — Science

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1IU	Abcam HeLa ACOX3 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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