ACOT2

Summary

ACOT2 (acyl-CoA thioesterase 2, HGNC:18431) is a protein-coding gene on chromosome 14q24.3, encoding Acyl-coenzyme A thioesterase 2, mitochondrial (P49753). Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels.

This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10965 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 113 total
• Druggable target: yes
• MANE Select transcript: NM_006821

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18431
Approved symbol	ACOT2
Name	acyl-CoA thioesterase 2
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	Mte1, ZAP128
Ensembl gene	ENSG00000119673
Ensembl biotype	protein_coding
OMIM	609972
Entrez	10965

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000238651, ENST00000538782, ENST00000557857, ENST00000613168, ENST00000864002, ENST00000913953

RefSeq mRNA: 2 — MANE Select: NM_006821 NM_001364177, NM_006821

CCDS: CCDS9816

Canonical transcript exons

ENST00000238651 — 3 exons

Exon	Start	End
ENSE00000911929	73569213	73569883
ENSE00003735800	73573388	73573590
ENSE00003912581	73574908	73575655

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.8700 / max 795.9144, expressed in 1707 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140545	14.2946	1701
140544	0.7927	284
140546	0.4655	156
140543	0.2899	80
207287	0.0273	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	96.27	gold quality
liver	UBERON:0002107	96.15	gold quality
heart left ventricle	UBERON:0002084	95.82	gold quality
right lobe of liver	UBERON:0001114	95.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.63	gold quality
skeletal muscle tissue	UBERON:0001134	95.47	gold quality
gastrocnemius	UBERON:0001388	95.19	gold quality
muscle tissue	UBERON:0002385	95.02	gold quality
right atrium auricular region	UBERON:0006631	94.91	gold quality
heart	UBERON:0000948	94.84	gold quality
muscle of leg	UBERON:0001383	94.74	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.63	gold quality
lower esophagus	UBERON:0013473	94.59	gold quality
right adrenal gland	UBERON:0001233	93.98	gold quality
right adrenal gland cortex	UBERON:0035827	93.95	gold quality
subcutaneous adipose tissue	UBERON:0002190	93.91	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.86	gold quality
smooth muscle tissue	UBERON:0001135	93.85	gold quality
adult mammalian kidney	UBERON:0000082	93.66	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.58	gold quality
left adrenal gland	UBERON:0001234	93.43	gold quality
adipose tissue	UBERON:0001013	93.40	gold quality
left adrenal gland cortex	UBERON:0035825	93.08	gold quality
mucosa of stomach	UBERON:0001199	93.05	gold quality
omental fat pad	UBERON:0010414	92.69	gold quality
adrenal gland	UBERON:0002369	92.25	gold quality
left coronary artery	UBERON:0001626	91.90	gold quality
duodenum	UBERON:0002114	91.84	gold quality
thoracic mammary gland	UBERON:0005200	91.82	gold quality
colon	UBERON:0001155	91.55	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.94
E-ENAD-17	no	271.69
E-MTAB-7303	no	75.58

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PPARA

miRNA regulators (miRDB)

28 targeting ACOT2, 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-8485	100.00	77.57	4731
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-603	98.58	68.28	1603
HSA-MIR-4490	98.51	68.47	943
HSA-MIR-4717-5P	98.19	67.97	894
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-6734-5P	95.70	65.56	950

Literature-anchored findings (GeneRIF, showing 3)

• the crystal structure at 2.1A resolution of human mitochondrial ACOT2, a type I enzyme is reported. (PMID:19497300)
• Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication. (PMID:35215835)
• High Expression of ACOT2 Predicts Worse Overall Survival and Abnormal Lipid Metabolism: A Potential Target for Acute Myeloid Leukemia. (PMID:36193167)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	acot20	ENSDARG00000042510
danio_rerio	acot21	ENSDARG00000042513
danio_rerio	acot22	ENSDARG00000058945
mus_musculus	Acot2	ENSMUSG00000021226
mus_musculus	Acot3	ENSMUSG00000021228
mus_musculus	Acot5	ENSMUSG00000042540
mus_musculus	Acot1	ENSMUSG00000072949
rattus_norvegicus	Acot2	ENSRNOG00000010134
rattus_norvegicus	Acot3	ENSRNOG00000027960
rattus_norvegicus	Acot5	ENSRNOG00000032508
rattus_norvegicus	Acot5	ENSRNOG00000053460
rattus_norvegicus	Acot1	ENSRNOG00000055221
caenorhabditis_elegans	C31H5.6	WBGENE00007857
caenorhabditis_elegans		WBGENE00019404
caenorhabditis_elegans	T05E7.1	WBGENE00020258
caenorhabditis_elegans	W03D8.8	WBGENE00020989

Paralogs (4): BAAT (ENSG00000136881), ACOT4 (ENSG00000177465), ACOT1 (ENSG00000184227), ACOT6 (ENSG00000205669)

Protein

Protein identifiers

Acyl-coenzyme A thioesterase 2, mitochondrial — P49753 (reviewed: P49753)

Alternative names: Acyl-coenzyme A thioester hydrolase 2a, CTE-Ia, Long-chain acyl-CoA thioesterase 2, ZAP128

All UniProt accessions (3): P49753, A0A087WT95, F6VI00

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels. Displays higher activity toward long chain acyl CoAs (C14-C20). The enzyme is involved in enhancing the hepatic fatty acid oxidation in mitochondria.

Subunit / interactions. Monomer.

Subcellular location. Mitochondrion.

Tissue specificity. Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas.

Pathway. Lipid metabolism; fatty acid metabolism.

Similarity. Belongs to the C/M/P thioester hydrolase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P49753-1	1	yes
P49753-2	2

RefSeq proteins (2): NP_001351106, NP_006812* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006862	Thio_Ohase/aa_AcTrfase	Domain
IPR014940	BAAT_C	Domain
IPR016662	Acyl-CoA_thioEstase_long-chain	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR042490	Thio_Ohase/BAAT_N	Homologous_superfamily

Pfam: PF04775, PF08840

Enzyme classification (BRENDA):

• EC 3.1.2.2 — palmitoyl-CoA hydrolase (BRENDA: 40 organisms, 184 substrates, 159 inhibitors, 142 Km, 46 kcat entries)

Substrate kinetics (BRENDA)

34 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
HEXADECANOYL-COA	—	26
DODECANOYL-COA	0.0018–0.325	12
LAUROYL-COA	0.0385–0.185	10
OLEOYL-COA	0.0014–0.0088	8
TETRADECANOYL-COA	0.0016–0.024	8
ARACHIDONOYL-COA	0.0004–0.0092	6
DECANOYL-COA	0.0027–0.067	6
P-NITROPHENYL BUTYRATE	0.61–1.88	6
PALMITOLEOYL-COA	0.0014–0.058	6
N-CARBOBENZOXY-L-TYROSINE P-NITROPHENYL ESTER	0.043–0.174	5
OCTADECANOYL-COA	0.0004–0.034	5
OCTANOYL-COA	0.007–0.118	5
EICOSANOYL-COA	0.0004–0.0048	3
HEXANOYL-COA	0.0055–0.077	3
PALMITOYL-COA	0.0033–0.023	3

Catalyzed reactions (Rhea), 10 shown:

• hexadecanoyl-CoA + H2O = hexadecanoate + CoA + H(+) (RHEA:16645)
• dodecanoyl-CoA + H2O = dodecanoate + CoA + H(+) (RHEA:30135)
• octadecanoyl-CoA + H2O = octadecanoate + CoA + H(+) (RHEA:30139)
• decanoyl-CoA + H2O = decanoate + CoA + H(+) (RHEA:40059)
• tetradecanoyl-CoA + H2O = tetradecanoate + CoA + H(+) (RHEA:40119)
• (9Z)-hexadecenoyl-CoA + H2O = (9Z)-hexadecenoate + CoA + H(+) (RHEA:40131)
• (9Z)-octadecenoyl-CoA + H2O = (9Z)-octadecenoate + CoA + H(+) (RHEA:40139)
• (9Z,12Z)-octadecadienoyl-CoA + H2O = (9Z,12Z)-octadecadienoate + CoA + H(+) (RHEA:40143)
• eicosanoyl-CoA + H2O = eicosanoate + CoA + H(+) (RHEA:40147)
• (9E)-octadecenoyl-CoA + H2O = (9E)-octadecenoate + CoA + H(+) (RHEA:40723)

UniProt features (48 total): strand 22, helix 9, sequence conflict 3, active site 3, sequence variant 2, turn 2, modified residue 2, splice variant 2, transit peptide 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3HLK	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P49753-F1	89.22	0.83

Functional residue map

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

Catalytic / active sites (3): 294 (charge relay system); 388 (charge relay system); 422 (charge relay system)

Post-translational modifications (2): 104, 470

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-77289	Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-9033241	Peroxisomal protein import
R-HSA-9837999	Mitochondrial protein degradation
R-HSA-9918432	Maturation of DENV proteins
R-HSA-1430728	Metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-556833	Metabolism of lipids
R-HSA-8978868	Fatty acid metabolism
R-HSA-9609507	Protein localization

MSigDB gene sets: 132 (showing top): YANG_BREAST_CANCER_ESR1_BULK_UP, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, UEDA_PERIFERAL_CLOCK, chr14q24, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, GOBP_AMIDE_METABOLIC_PROCESS, FUJIWARA_PARK2_HEPATOCYTE_PROLIFERATION_DN

GO Biological Process (6): very long-chain fatty acid metabolic process (GO:0000038), long-chain fatty acid metabolic process (GO:0001676), fatty acid metabolic process (GO:0006631), acyl-CoA metabolic process (GO:0006637), lipid metabolic process (GO:0006629), monocarboxylic acid metabolic process (GO:0032787)

GO Molecular Function (5): fatty acyl-CoA hydrolase activity (GO:0047617), carboxylic ester hydrolase activity (GO:0052689), protein binding (GO:0005515), hydrolase activity (GO:0016787), thiolester hydrolase activity (GO:0016790)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), peroxisomal matrix (GO:0005782), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Fatty acid metabolism	1
Protein localization	1
Metabolism of proteins	1
Dengue Virus Genome Translation and Replication	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid metabolic process	2
hydrolase activity, acting on ester bonds	2
cytoplasm	2
lipid metabolic process	1
monocarboxylic acid metabolic process	1
nucleoside phosphate metabolic process	1
sulfur compound metabolic process	1
purine-containing compound metabolic process	1
primary metabolic process	1
carboxylic acid metabolic process	1
acyl-CoA hydrolase activity	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
peroxisome	1
microbody lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

957 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACOT2	ACOT8	O14734	957
ACOT2	PPARA	Q07869	751
ACOT2	ACOT13	Q9NPJ3	630
ACOT2	ACOT9	Q9Y305	614
ACOT2	EHHADH	Q08426	563
ACOT2	HEATR4	Q86WZ0	552
ACOT2	ACOX1	Q15067	511
ACOT2	ACOT11	Q8WXI4	490
ACOT2	PDK4	Q16654	484
ACOT2	CPT2	P23786	480
ACOT2	HADHA	P40939	480
ACOT2	ACADL	P28330	463
ACOT2	ACOT7	O00154	461
ACOT2	SLC27A1	Q6PCB7	437
ACOT2	ECH1	Q13011	435

IntAct

52 interactions, top by confidence:

A	B	Type	Score
AKR7A3	AKR7A2	psi-mi:“MI:0914”(association)	0.890
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
ACOT2	ACOT1	psi-mi:“MI:0914”(association)	0.530
HTRA2	HAX1	psi-mi:“MI:2364”(proximity)	0.420
NLGN3	ACOT2	psi-mi:“MI:0915”(physical association)	0.400
ACOT2	NLGN3	psi-mi:“MI:0915”(physical association)	0.400
ACOT2	TFAM	psi-mi:“MI:0915”(physical association)	0.400
ZNF3	ACOT2	psi-mi:“MI:0915”(physical association)	0.400
IMMP2L	ANKHD1-EIF4EBP3	psi-mi:“MI:0914”(association)	0.350
RBM23	AHCYL1	psi-mi:“MI:0914”(association)	0.350
LDHD	ACOT2	psi-mi:“MI:0914”(association)	0.350
CNP	UBB	psi-mi:“MI:0914”(association)	0.350
FECH	GTPBP10	psi-mi:“MI:0914”(association)	0.350
AZU1	UBA6	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350
DNAJC30	UBA6	psi-mi:“MI:0914”(association)	0.350
GAB2	UBA6	psi-mi:“MI:0914”(association)	0.350
ITM2C	UBA6	psi-mi:“MI:0914”(association)	0.350
KIAA1191	UBA6	psi-mi:“MI:0914”(association)	0.350
LGALS9	CYB5A	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
NPPB	ACOT7	psi-mi:“MI:0914”(association)	0.350
PCDHGA9	UBA6	psi-mi:“MI:0914”(association)	0.350
PEX7	UBA6	psi-mi:“MI:0914”(association)	0.350
SNRNP27	BPNT1	psi-mi:“MI:0914”(association)	0.350
TGFBRAP1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
TTC9C		psi-mi:“MI:0914”(association)	0.350
USP46	UBA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (140): ACOT2 (Affinity Capture-MS), ACOT2 (Affinity Capture-MS), ACOT2 (Affinity Capture-MS), ACOT2 (Proximity Label-MS), ACOT2 (Two-hybrid), ACOT2 (Affinity Capture-Western), ACOT1 (Affinity Capture-MS), SPATA33 (Affinity Capture-MS), ACOT2 (Affinity Capture-MS), ACOT2 (Proximity Label-MS), ACOT2 (Proximity Label-MS), ACOT2 (Proximity Label-MS), ACOT2 (Proximity Label-MS), ACOT2 (Proximity Label-MS), ACOT2 (Proximity Label-MS)

ESM2 similar proteins: A0PJW6, A5PJW2, B3DI94, B5DFG1, O00411, O95382, P49753, Q059A4, Q0V9C9, Q3SX05, Q4KLZ1, Q4KM93, Q4R5Q4, Q4VAE3, Q53S58, Q5EA71, Q5T1A1, Q5XIC2, Q643R3, Q66LN0, Q6DC58, Q6NVG1, Q76MJ5, Q7YS91, Q80YU0, Q863F8, Q8BPE4, Q8BWM0, Q8N159, Q8NFF5, Q8VCA6, Q8VD26, Q921N7, Q96AN5, Q96KR6, Q99MQ3, Q9BQ95, Q9BUB7, Q9BYK8, Q9CQE2

Diamond homologs: A2AKK5, O55137, O55171, O88267, P49753, Q14032, Q32Q92, Q3I5F7, Q5FVR5, Q63276, Q6Q2Z6, Q86TX2, Q8BGG9, Q8BWN8, Q8N9L9, Q91X34, Q9QYR7, Q9QYR9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFEB	“up-regulates quantity by expression”	ACOT2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 69 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
EPH-ephrin mediated repulsion of cells	5	23.9×	6e-04
EPH-Ephrin signaling	5	18.0×	9e-04
Mitochondrial protein degradation	6	14.9×	6e-04
Biological oxidations	5	14.1×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
ephrin receptor signaling pathway	5	28.2×	3e-04
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	7	9.0×	2e-03
axon guidance	6	8.9×	7e-03

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	96
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

430 predictions. Top by Δscore:

Variant	Effect	Δscore
14:73573133:T:A	acceptor_gain	1.0000
14:73573374:T:TA	acceptor_gain	1.0000
14:73573383:CCAAG:C	acceptor_loss	1.0000
14:73573384:CAAGA:C	acceptor_loss	1.0000
14:73573385:A:AG	acceptor_gain	1.0000
14:73573386:A:C	acceptor_loss	1.0000
14:73573386:A:G	acceptor_gain	1.0000
14:73573387:G:A	acceptor_loss	1.0000
14:73573387:G:GA	acceptor_gain	1.0000
14:73573387:GA:G	acceptor_gain	1.0000
14:73573387:GAA:G	acceptor_gain	1.0000
14:73573387:GAAC:G	acceptor_gain	1.0000
14:73573387:GAACC:G	acceptor_gain	1.0000
14:73573588:GAG:G	donor_gain	1.0000
14:73573591:G:GG	donor_gain	1.0000
14:73573591:GTTA:G	donor_loss	1.0000
14:73573592:T:G	donor_gain	1.0000
14:73574903:CTCA:C	acceptor_loss	1.0000
14:73574904:TCA:T	acceptor_loss	1.0000
14:73574905:CA:C	acceptor_loss	1.0000
14:73574907:GGTA:G	acceptor_gain	1.0000
14:73569864:C:T	donor_gain	0.9900
14:73569880:CCAG:C	donor_loss	0.9900
14:73569881:CAG:C	donor_loss	0.9900
14:73569882:AGG:A	donor_loss	0.9900
14:73569883:GG:G	donor_loss	0.9900
14:73569884:G:T	donor_loss	0.9900
14:73569885:T:A	donor_loss	0.9900
14:73571643:G:GT	donor_gain	0.9900
14:73573389:A:AG	acceptor_gain	0.9900

AlphaMissense

3101 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:73569562:T:C	F108L	0.987
14:73569564:C:A	F108L	0.987
14:73569564:C:G	F108L	0.987
14:73569640:T:C	F134L	0.983
14:73569642:C:A	F134L	0.983
14:73569642:C:G	F134L	0.983
14:73569580:T:G	Y114D	0.982
14:73569521:T:A	V94D	0.979
14:73573456:A:C	S238R	0.978
14:73573458:T:A	S238R	0.978
14:73573458:T:G	S238R	0.978
14:73569563:T:C	F108S	0.977
14:73575238:A:C	S393R	0.974
14:73575240:T:A	S393R	0.974
14:73575240:T:G	S393R	0.974
14:73575327:C:A	H422Q	0.972
14:73575327:C:G	H422Q	0.972
14:73575442:T:A	W461R	0.972
14:73575442:T:C	W461R	0.972
14:73575223:G:C	D388H	0.969
14:73575224:A:C	D388A	0.968
14:73575225:C:A	D388E	0.967
14:73575225:C:G	D388E	0.967
14:73575325:C:G	H422D	0.967
14:73575397:T:A	W446R	0.967
14:73575397:T:C	W446R	0.967
14:73569871:T:C	F211L	0.966
14:73569873:C:A	F211L	0.966
14:73569873:C:G	F211L	0.966
14:73573477:T:C	F245L	0.966

dbSNP variants (sampled 300 via entrez): RS1000463619 (14:73567460 A>G), RS1000800252 (14:73566451 G>A,C), RS1000895422 (14:73566286 A>G), RS1001015638 (14:73571313 T>C), RS1001132847 (14:73571681 C>T), RS1001368315 (14:73571637 C>A,T), RS1002413287 (14:73571833 T>C), RS1002712940 (14:73566598 G>A,C), RS1003084035 (14:73574522 C>A), RS1003381769 (14:73569586 G>A,T), RS1003468790 (14:73573255 T>C,G), RS1004815145 (14:73568315 G>A), RS1004881171 (14:73569813 C>T), RS1004963452 (14:73574021 C>G,T), RS1005206007 (14:73568689 G>A)

Disease associations

OMIM: gene MIM:609972 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009733_205	Urinary metabolite levels in chronic kidney disease	3.000000e-145

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2189135 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	5
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
(+)-JQ1 compound	decreases expression	2
Acetaminophen	decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
aristolochic acid I	increases expression	1
fluorotelomer sulfonic acids	increases expression	1
triphenyl phosphate	affects expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	increases expression	1
perfluorodecanoic acid	increases expression	1
2,3-dimethoxy-1,4-naphthoquinone	decreases expression	1
sulfluramid	increases expression	1
perfluorooctanesulfonamide	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-heptanoic acid	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	increases expression	1
perfluorohexanoic acid	increases expression	1
abrine	increases expression	1
perfluorododecanoic acid	increases expression	1
perfluorobutanesulfonic acid	increases expression	1
perfluoroundecanoic acid	increases expression	1
Rosiglitazone	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benztropine	increases expression	1
Cadmium	increases abundance, increases expression	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
CHEMBL2209103	Binding	Inhibition of ACOT2 binding to FP-biotin in [12C][14N]-lysine, arginine and [13C6][15N2]-lysine, arginine labeled HEK293T cells at 20 uM after 1 hr by isotopic activity-based protein profiling-MudPIT assay	Discovery and optimization of sulfonyl acrylonitriles as selective, covalent inhibitors of protein phosphatase methylesterase-1. — J Med Chem

Clinical trials (associated diseases)

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