ELOVL6

Summary

ELOVL6 (ELOVL fatty acid elongase 6, HGNC:15829) is a protein-coding gene on chromosome 4q25, encoding Very long chain fatty acid elongase 6 (Q9H5J4). Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle.

Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).

Source: NCBI Gene 79071 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 17 total
• Druggable target: yes
• MANE Select transcript: NM_024090

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15829
Approved symbol	ELOVL6
Name	ELOVL fatty acid elongase 6
Location	4q25
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23378, MGC5487, LCE
Ensembl gene	ENSG00000170522
Ensembl biotype	protein_coding
OMIM	611546
Entrez	79071

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000302274, ENST00000394607, ENST00000503885, ENST00000506461, ENST00000506625, ENST00000507451, ENST00000513003, ENST00000514184, ENST00000907637, ENST00000907638, ENST00000939766, ENST00000939767

RefSeq mRNA: 2 — MANE Select: NM_024090 NM_001130721, NM_024090

CCDS: CCDS3690

Canonical transcript exons

ENST00000302274 — 4 exons

Exon	Start	End
ENSE00001205341	110198247	110198615
ENSE00001888409	110045846	110051762
ENSE00003569348	110105497	110105628
ENSE00003668712	110059603	110059754

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 94.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.1193 / max 1482.7995, expressed in 1623 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53619	10.7061	1409
53618	7.2825	1496
53623	0.4454	251
53621	0.3007	115
53622	0.2047	97
53620	0.1799	65

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	94.02	gold quality
endothelial cell	CL:0000115	93.97	gold quality
esophagus squamous epithelium	UBERON:0006920	92.48	gold quality
mucosa of transverse colon	UBERON:0004991	92.38	gold quality
colonic mucosa	UBERON:0000317	90.78	gold quality
liver	UBERON:0002107	90.74	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.53	gold quality
buccal mucosa cell	CL:0002336	90.22	gold quality
epithelium of esophagus	UBERON:0001976	89.67	gold quality
adrenal tissue	UBERON:0018303	89.57	gold quality
gingival epithelium	UBERON:0001949	89.56	gold quality
squamous epithelium	UBERON:0006914	89.18	gold quality
secondary oocyte	CL:0000655	89.01	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.25	gold quality
lower esophagus mucosa	UBERON:0035834	88.20	gold quality
esophagus mucosa	UBERON:0002469	88.02	gold quality
gingiva	UBERON:0001828	87.47	gold quality
spinal cord	UBERON:0002240	86.72	gold quality
duodenum	UBERON:0002114	86.51	gold quality
cortical plate	UBERON:0005343	86.47	gold quality
skin of abdomen	UBERON:0001416	85.73	gold quality
adenohypophysis	UBERON:0002196	85.63	gold quality
skin of leg	UBERON:0001511	85.48	gold quality
rectum	UBERON:0001052	85.36	gold quality
left adrenal gland cortex	UBERON:0035825	85.28	gold quality
ganglionic eminence	UBERON:0004023	85.26	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.18	gold quality
embryo	UBERON:0000922	85.01	gold quality
right adrenal gland	UBERON:0001233	85.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.16

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO1, MLXIPL, NR1H3, PPARA, SREBF1

miRNA regulators (miRDB)

149 targeting ELOVL6, 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-6867-5P	100.00	82.21	3464
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163

Literature-anchored findings (GeneRIF, showing 15)

• Studies suggest that inhibition of ELOVL6 could be a new therapeutic approach for the treatment of insulin resistance, diabetes, cardiovascular disease, and other metabolic diseases. (PMID:19259639)
• study showed cystic fibrosis cells exhibit increased metabolism along metabolic pathways leading to n-7 and n-9 fatty acids compared with wild-type cells; changes are accompanied by increased expression of Delta5, Delta6 and Delta9 desaturases and elongases 5 and 6 (PMID:21544602)
• Genetic variations in the ELOVL6 gene were associated with insulin sensitivity in this population-based study. (PMID:21701577)
• Elovl6 expression is positively correlated with severity of hepatosteatosis and liver injury in NASH patients. (PMID:22753171)
• The study indicated that the ELOVL6 gene polymorphism rs12504538 is associated with an increased risk of T2DM, because it causes an increase in insulin resistance. (PMID:23903678)
• Elovl6 expression is significantly downregulated in human lung with idiopathic pulmonary fibrosis. (PMID:24113622)
• human liver samples from patients with Non-alcoholic steatohepatitis or Non-alcoholic steatohepatitis-related hepatocellular carcinoma showed an elevated expression of the elongase ELOVL6, which is responsible for the elongation of C16 fatty acids. (PMID:24714086)
• KAR regulates ELOVL6 via two modes; KAR may induce conformational changes in ELOVL6; conversion of 3-ketoacyl-CoA to 3-hydroxyacyl-CoA by KAR may facilitate release of the product from the ELOVL6-KAR complex. (PMID:25003994)
• ). In conclusion, we found an interaction between the HLA-Cw6 and LCE genotypes on disease improvement among psoriatic patients treated with anti-TNFs. (PMID:25794162)
• Functional screening…revealed ELOVL6 as the main elongation enzyme responsible for acyl chain elongation in lung cancer squamous cell carcinoma cancer cells (PMID:26862848)
• Ultra-high-throughput fluorescence screening followed by a RapidFire mass spectrometry assay was a suitable strategy for lead discovery against Elovl6. (PMID:27793673)
• our results indicate that Elovl6 enhances oncogenic activity in liver cancer and is associated with poor prognosis in patients with HCC. Elovl6 may be a therapeutic target for HCC (PMID:29700319)
• 33 ELOVL6 mutations were found with a new variant in the promoter region, though no mutation in the coding region was found. However no mutations were found that largely deviated in allele frequency as compared with healthy Japanese individuals. (PMID:31956234)
• ELOVL6 is associated with immunosuppression in lung adenocarcinoma through bioinformatics analysis. (PMID:37682172)
• ELOVL6 promotes the progression of head and neck squamous cell carcinoma via activating WNT/beta-catenin pathway. (PMID:38426809)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	elovl6	ENSDARG00000004402
mus_musculus	Elovl6	ENSMUSG00000041220
rattus_norvegicus	Elovl6	ENSRNOG00000048949
drosophila_melanogaster	Baldspot	FBGN0260960
caenorhabditis_elegans		WBGENE00001241
caenorhabditis_elegans		WBGENE00001242
caenorhabditis_elegans		WBGENE00001247

Paralogs (6): ELOVL5 (ENSG00000012660), ELOVL1 (ENSG00000066322), ELOVL4 (ENSG00000118402), ELOVL3 (ENSG00000119915), ELOVL7 (ENSG00000164181), ELOVL2 (ENSG00000197977)

Protein

Protein identifiers

Very long chain fatty acid elongase 6 — Q9H5J4 (reviewed: Q9H5J4)

Alternative names: 3-keto acyl-CoA synthase ELOVL6, ELOVL fatty acid elongase 6, Elongation of very long chain fatty acids protein 6, Fatty acid elongase 2, Fatty acyl-CoA elongase, Long-chain fatty-acyl elongase, Very long chain 3-ketoacyl-CoA synthase 6, Very long chain 3-oxoacyl-CoA synthase 6

All UniProt accessions (4): Q9H5J4, D6RBP4, D6RCU0, D6RHI2

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitous.

Post-translational modifications. N-Glycosylated.

Activity regulation. The reaction is stimulated by the presence of HSD17B12, the enzyme catalyzing the second step of the elongation cycle.

Pathway. Lipid metabolism; fatty acid biosynthesis.

Similarity. Belongs to the ELO family. ELOVL6 subfamily.

RefSeq proteins (2): NP_001124193, NP_076995* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002076	ELO_fam	Family
IPR030457	ELO_CS	Conserved_site
IPR033675	ELOVL6	Family

Pfam: PF01151

Enzyme classification (BRENDA):

• EC 2.3.1.16 — acetyl-CoA C-acyltransferase (BRENDA: 29 organisms, 107 substrates, 47 inhibitors, 51 Km, 19 kcat entries)
• EC 2.3.1.199 — very-long-chain 3-oxoacyl-CoA synthase (BRENDA: 21 organisms, 54 substrates, 11 inhibitors, 6 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
ACETOACETYL-COA	0.0092–0.394	16
ACETYL-COA	0.011–2.28	7
GLUTARYL-COA	2.2–2.33	4
MALONYL-COA	2.57–3.32	4
SUCCINYL-COA	0.59–2.1	4
COA	0.018–0.093	3
3-OXODECANOYL-COA	0.0018–0.0021	2
3-OXOHEXANOYL-COA	0.0083–0.028	2
3-OXOOCTANOYL-COA	0.0024–0.0088	2
PALMITOYL-COA	0.0012–0.13	2
3-OXODODECANOYL-COA	0.0093	1
3-OXOPENTANOYL-COA	0.059	1
COA-SH	0.0087	1
DECANOYL-COA	0.83	1
LAUROYL-COA	0.05	1

Catalyzed reactions (Rhea), 8 shown:

• a very-long-chain acyl-CoA + malonyl-CoA + H(+) = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA (RHEA:32727)
• hexadecanoyl-CoA + malonyl-CoA + H(+) = 3-oxooctadecanoyl-CoA + CO2 + CoA (RHEA:35315)
• (9Z,12Z)-octadecadienoyl-CoA + malonyl-CoA + H(+) = (11Z,14Z)-3-oxoicosa-11,14-dienoyl-CoA + CO2 + CoA (RHEA:36503)
• (9Z)-octadecenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(11Z)-eicosenoyl-CoA + CO2 + CoA (RHEA:36511)
• (9Z,12Z,15Z)-octadecatrienoyl-CoA + malonyl-CoA + H(+) = (11Z,14Z,17Z)-3-oxoeicosatrienoyl-CoA + CO2 + CoA (RHEA:36523)
• tetradecanoyl-CoA + malonyl-CoA + H(+) = 3-oxohexadecanoyl-CoA + CO2 + CoA (RHEA:39167)
• (9Z)-hexadecenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(11Z)-octadecenoyl-CoA + CO2 + CoA (RHEA:39675)
• dodecanoyl-CoA + malonyl-CoA + H(+) = 3-oxotetradecanoyl-CoA + CO2 + CoA (RHEA:60140)

UniProt features (10 total): transmembrane region 7, chain 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H5J4-F1	92.40	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.

Glycosylation sites (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)
R-HSA-75876	Synthesis of very long-chain fatty acyl-CoAs

MSigDB gene sets: 402 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, chr4q25, REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, FOXO1_01, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS

GO Biological Process (13): unsaturated fatty acid biosynthetic process (GO:0006636), fatty acid elongation, saturated fatty acid (GO:0019367), sphingolipid biosynthetic process (GO:0030148), fatty acid elongation, monounsaturated fatty acid (GO:0034625), fatty acid elongation, polyunsaturated fatty acid (GO:0034626), long-chain fatty-acyl-CoA biosynthetic process (GO:0035338), long-chain fatty acid biosynthetic process (GO:0042759), very long-chain fatty acid biosynthetic process (GO:0042761), positive regulation of cold-induced thermogenesis (GO:0120162), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), fatty acid biosynthetic process (GO:0006633), fatty acid elongation (GO:0030497)

GO Molecular Function (4): fatty acid elongase activity (GO:0009922), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), fatty acid elongase complex (GO:0009923), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Regulation of cholesterol biosynthesis by SREBP (SREBF)	1
Fatty acyl-CoA biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid biosynthetic process	4
lipid biosynthetic process	2
fatty acid elongation, unsaturated fatty acid	2
unsaturated fatty acid metabolic process	1
fatty acid elongation	1
sphingolipid metabolic process	1
long-chain fatty-acyl-CoA metabolic process	1
fatty-acyl-CoA biosynthetic process	1
long-chain fatty acid metabolic process	1
very long-chain fatty acid metabolic process	1
positive regulation of multicellular organismal process	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
fatty acid metabolic process	1
monocarboxylic acid biosynthetic process	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
binding	1
catalytic activity	1
acyltransferase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum membrane	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
transferase complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1204 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELOVL6	FASN	P49327	881
ELOVL6	SCD	O00767	820
ELOVL6	ACACA	Q13085	813
ELOVL6	THRSP	Q92748	744
ELOVL6	PPARA	Q07869	741
ELOVL6	TECR	Q9NZ01	736
ELOVL6	SREBF1	P36956	720
ELOVL6	SREBF2	Q12772	697
ELOVL6	ACLY	P53396	696
ELOVL6	FADS2	O95864	687
ELOVL6	FADS1	O60427	686
ELOVL6	CDH17	Q12864	676
ELOVL6	SCD5	Q86SK9	661
ELOVL6	MLXIPL	Q9NP71	657
ELOVL6	GPAM	Q9HCL2	633

IntAct

15 interactions, top by confidence:

A	B	Type	Score
TECR	HACD1	psi-mi:“MI:0914”(association)	0.700
HMOX1	ELOVL6	psi-mi:“MI:0915”(physical association)	0.560
LCP2	ELOVL6	psi-mi:“MI:0915”(physical association)	0.560
RTP2	ELOVL6	psi-mi:“MI:0915”(physical association)	0.560
ELOVL6	SNRNP48	psi-mi:“MI:0915”(physical association)	0.400
	TMEM223	psi-mi:“MI:0914”(association)	0.350
TECR	HSD17B12	psi-mi:“MI:0914”(association)	0.350
LCP2	ELOVL6	psi-mi:“MI:0915”(physical association)	0.000
RTP2	ELOVL6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): ELOVL6 (Affinity Capture-RNA), ELOVL6 (Two-hybrid), ELOVL6 (Two-hybrid), RTP2 (Two-hybrid), ELOVL6 (Affinity Capture-MS), ELOVL6 (Affinity Capture-MS), SNRNP48 (Affinity Capture-MS), ELOVL6 (Cross-Linking-MS (XL-MS)), ELOVL6 (Affinity Capture-RNA), ELOVL6 (Affinity Capture-Western)

ESM2 similar proteins: A0A0C5PHQ7, A0JNC4, A1L3X0, A7YY55, A8WGS4, D4A612, D4ADY9, P49191, Q03574, Q1HRV8, Q2KJD9, Q32NI8, Q3S8M4, Q4R516, Q5M8U1, Q5ND56, Q5NVQ2, Q5RFL5, Q5XIY2, Q5ZJR8, Q5ZM57, Q6GLX2, Q6P4N1, Q6PC64, Q6PGS5, Q6YWS8, Q7SY06, Q84QC0, Q8BHI7, Q8CGF5, Q8K2C9, Q920L5, Q920L6, Q920L7, Q95K73, Q96MV1, Q9BW60, Q9D2Y9, Q9D6K9, Q9EQC4

Diamond homologs: A0A0C5PHQ7, A0JNC4, A1L3X0, B4QVX4, D4A612, D4ADY9, G5EEE5, P40319, P49191, Q03574, Q1HRV8, Q2KJD9, Q32NI8, Q3S8M4, Q4D5J7, Q4DUK4, Q4Q5G6, Q4QJ85, Q4R516, Q54CJ4, Q54TC9, Q5M8U1, Q5RFL5, Q5ZJR8, Q86JM5, Q8BHI7, Q920L5, Q920L6, Q920L7, Q95K73, Q9BW60, Q9D2Y9, Q9EQC4, Q9GZR5, Q9H5J4, Q9JLJ4, Q9JLJ5, Q9NXB9, Q9NYP7, Q9UTF7

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
ELOVL6	“down-regulates quantity”	palmitoyl-CoA	“chemical modification”
ELOVL6	“up-regulates quantity”	3-hydroxyoctadecanoyl-CoA	“chemical modification”
SREBF1	“up-regulates quantity by expression”	ELOVL6	“transcriptional regulation”
MLXIPL	“up-regulates quantity by expression”	ELOVL6	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1561 predictions. Top by Δscore:

Variant	Effect	Δscore
4:110059750:ATATA:A	acceptor_gain	1.0000
4:110059753:TA:T	acceptor_gain	1.0000
4:110059755:C:CC	acceptor_gain	1.0000
4:110059758:C:CT	acceptor_gain	1.0000
4:110059759:A:AC	acceptor_gain	1.0000
4:110059759:A:C	acceptor_gain	1.0000
4:110059762:A:AC	acceptor_gain	1.0000
4:110059762:A:C	acceptor_gain	1.0000
4:110105492:CCTA:C	donor_loss	1.0000
4:110105493:CTACC:C	donor_loss	1.0000
4:110105495:A:AC	donor_gain	1.0000
4:110105496:C:CC	donor_gain	1.0000
4:110105625:CTTC:C	acceptor_gain	1.0000
4:110105626:TTC:T	acceptor_gain	1.0000
4:110105629:C:A	acceptor_loss	1.0000
4:110105629:C:CC	acceptor_gain	1.0000
4:110105630:T:G	acceptor_loss	1.0000
4:110198243:GTAC:G	donor_loss	1.0000
4:110198244:TACCA:T	donor_loss	1.0000
4:110198245:A:AC	donor_gain	1.0000
4:110198246:C:CC	donor_gain	1.0000
4:110198246:C:CG	donor_loss	1.0000
4:110198449:T:TA	donor_gain	1.0000
4:110051559:T:TA	donor_gain	0.9900
4:110051760:CTC:C	acceptor_gain	0.9900
4:110051760:CTCCT:C	acceptor_loss	0.9900
4:110051762:CCT:C	acceptor_loss	0.9900
4:110051763:C:A	acceptor_loss	0.9900
4:110051763:C:CC	acceptor_gain	0.9900
4:110051764:T:A	acceptor_loss	0.9900

AlphaMissense

1766 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:110051398:G:C	F246L	1.000
4:110051398:G:T	F246L	1.000
4:110051400:A:G	F246L	1.000
4:110051413:G:C	S241R	1.000
4:110051413:G:T	S241R	1.000
4:110051415:T:G	S241R	1.000
4:110051626:G:C	N170K	1.000
4:110051626:G:T	N170K	1.000
4:110051706:G:C	H144D	1.000
4:110051759:T:A	D126V	1.000
4:110059616:T:A	K120N	1.000
4:110059616:T:G	K120N	1.000
4:110059617:T:A	K120I	1.000
4:110051511:C:G	G209R	0.999
4:110051519:A:G	M206T	0.999
4:110051604:A:G	Y178H	0.999
4:110051605:C:A	M177I	0.999
4:110051605:C:G	M177I	0.999
4:110051605:C:T	M177I	0.999
4:110051614:G:C	H174Q	0.999
4:110051614:G:T	H174Q	0.999
4:110051616:G:C	H174D	0.999
4:110051616:G:T	H174N	0.999
4:110051643:A:G	W165R	0.999
4:110051643:A:T	W165R	0.999
4:110051701:G:C	H145Q	0.999
4:110051701:G:T	H145Q	0.999
4:110051703:G:C	H145D	0.999
4:110051703:G:T	H145N	0.999
4:110051704:G:C	H144Q	0.999

dbSNP variants (sampled 300 via entrez): RS1000023289 (4:110176238 C>T), RS1000049036 (4:110144294 T>C), RS1000053861 (4:110144003 G>A), RS10001138 (4:110056974 C>A), RS1000121601 (4:110053280 G>A), RS10001299 (4:110121965 G>C), RS1000130473 (4:110115678 G>A), RS1000138565 (4:110093568 T>A,G), RS1000153695 (4:110194117 T>C), RS1000177970 (4:110068354 A>G), RS1000185199 (4:110156423 G>A), RS1000195097 (4:110066180 T>C), RS1000218881 (4:110106637 T>C), RS1000252158 (4:110099836 T>C), RS1000267086 (4:110188428 C>T)

Disease associations

OMIM: gene MIM:611546 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000684_10	Attention deficit hyperactivity disorder	8.000000e-06
GCST001762_235	Obesity-related traits	3.000000e-06
GCST008169_4	Benign prostatic hyperplasia	1.000000e-06
GCST012020_289	Serum metabolite levels	5.000000e-13
GCST012020_290	Serum metabolite levels	8.000000e-11
GCST90011900_89	Serum alkaline phosphatase levels	3.000000e-11
GCST90013406_160	Liver enzyme levels (alkaline phosphatase)	4.000000e-23

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004502	adiponectin measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5704 (SINGLE PROTEIN)

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

Binding affinities (BindingDB)

36 measured of 49 human assays (49 total across all organisms); most potent 36 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
N-(4-Isopropylphenyl)-3-endo-(phenylsulfonyl)-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	32 nM
(1R*,4S*,6R*)-(+/-)-N-[4-(Propan-2-yloxy)phenyl]-2-(thiophen-3-ylsulfonyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	67 nM
(1R*,4S*,6R*)-(+/-)-2-(Phenylsulfonyl)-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	70 nM
CHEMBL1163008	IC50	78 nM
(1R*,4S*,6R*)-(+/-)-N-[4-(Propan-2-yloxy)phenyl]-2-(pyridin-3-ylsulfonyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	80 nM
(1R*,4S*,6R*)-(+/-)-2-[(3-Fluorophenyl)sulfonyl]-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	110 nM
(1R*,4S*,6R*)-(+/-)-N-[4-(Propan-2-yloxy)phenyl]-2-(pyridin-2-ylsulfonyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	120 nM
(1R*,4S*,6R*)-(+/-)-2-(Butylsulfonyl)-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	120 nM
(1R*,4S*,6R*)-(+/-)-2-[(2-Fluorophenyl)sulfonyl]-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	130 nM
(1R*,4S*,6R*)-(+/-)-2-[(4-Fluorophenyl)sulfonyl]-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	190 nM
(1R*,4S*,6R*)-(+/-)-N-[4-(Propan-2-yloxy)phenyl]-2-(propylsulfonyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	210 nM
(1R*,4S*,6R*)-(+/-)-2-[(1-Methyl-1H-imidazol-4-yl)sulfonyl]-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	230 nM
(1R*,4S*,6R*)-(+/-)-N-[4-(Propan-2-yloxy)phenyl]-2-(thiophen-2-ylsulfonyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	320 nM
3-endo-(Pyridin-4-ylsulfonyl)-N-[4-(trifluoromethyl)phenyl]-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	510 nM
(1R*,4S*,6R*)-(+/-)-2-(Butylsulfonyl)-N-[4-(trifluoromethoxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	510 nM
3-endo-(Pyridin-3-ylsulfonyl)-N-[4-(trifluoromethyl)phenyl]-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	560 nM
3-endo-[(3-Chlorophenyl)sulfonyl]-N-[4-(trifluoromethyl)phenyl]-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	600 nM
(1R*,4S*,6R*)-(+/-)-2-[(3-Methoxyphenyl)sulfonyl]-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	600 nM
(1R*,4S*,6R*)-(+/-)-2-[(4-Methoxyphenyl)sulfonyl]-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	610 nM
(1R*,4S*,6R*)-(+/-)-N-[4-(Propan-2-yloxy)phenyl]-2-(propan-2-ylsulfonyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	620 nM
(1R*,4S*,6R*)-(+/-)-2-(Butylsulfonyl)-N-(4-phenoxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	710 nM
(1R*,4S*,6R*)-(+/-)-N-(4-Benzylphenyl)-2-(butylsulfonyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	830 nM
N-(4-Chlorophenyl)-3-endo-(phenylsulfonyl)-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	970 nM
(1R*,4S*,6R*)-(+/-)-2-(Butylsulfonyl)-N-[4-(trifluoromethyl)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	1300 nM
3-endo-(Phenylsulfonyl)-N-[3-(trifluoromethyl)phenyl]-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	1400 nM
(1R*,4S*,6R*)-(+/-)-2-(Butylsulfonyl)-N-(4-methoxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	1710 nM
N-(4-Methylphenyl)-3-endo-(phenylsulfonyl)-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	1750 nM
[3-endo-(Phenylsulfonyl)-8-azabicyclo[3.2.1]oct-8-yl][4-(trifluoromethyl)phenyl]methanone	IC50	1750 nM
(1R*,4S*,6R*)-(+/-)-2-(Butylsulfonyl)-N-(4-methylphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	2300 nM
3-endo-[(4-Chlorophenyl)sulfonyl]-N-[4-(trifluoromethyl)phenyl]-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	2850 nM
(1R*,4S*,6R*)-(+/-)-N-[4-(Benzyloxy)phenyl]-2-(butylsulfonyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	2900 nM
(1R*,4S*,6R*)-(+/-)-2-(Ethylsulfonyl)-N-[4-(propan-2-yloxy)phenyl]-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	2900 nM
3-endo-[(2-Chlorophenyl)sulfonyl]-N-[4-(trifluoromethyl)phenyl]-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	3390 nM
(1R*,4S*,6R*)-(+/-)-N-[4-(Propan-2-yloxy)phenyl]-2-{[4-(trifluoromethyl)phenyl]sulfonyl}-2-azabicyclo[2.2.2]octane-6-carboxamide	IC50	3500 nM
N-(4-Methoxyphenyl)-3-endo-(phenylsulfonyl)-8-azabicyclo[3.2.1]octane-8-carboxamide	IC50	5070 nM
(1R*,2R*,5R*)-(+/-)-8-(Butylsulfonyl)-N-[4-(propan-2-yloxy)phenyl]-8-azabicyclo[3.2.1]octane-2-carboxamide	IC50	5950 nM

ChEMBL bioactivities

111 potent at pChembl≥5 of 111 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.59	IC50	2.6	nM	CHEMBL570571
8.40	IC50	4	nM	CHEMBL571707
8.06	IC50	8.7	nM	CHEMBL490110
8.05	IC50	8.9	nM	CHEMBL449121
8.00	IC50	10	nM	CHEMBL493642
8.00	IC50	10	nM	CHEMBL571698
7.92	IC50	12	nM	CHEMBL490750
7.89	IC50	13	nM	CHEMBL585922
7.85	IC50	14	nM	CHEMBL491949
7.82	IC50	15	nM	CHEMBL572158
7.77	IC50	17	nM	CHEMBL491944
7.72	IC50	19	nM	CHEMBL570576
7.66	IC50	22	nM	CHEMBL571698
7.58	IC50	26	nM	CHEMBL572158
7.58	IC50	26	nM	CHEMBL585922
7.50	IC50	32	nM	CHEMBL2307408
7.48	IC50	33	nM	CHEMBL570576
7.42	IC50	38	nM	CHEMBL582825
7.41	IC50	39	nM	CHEMBL576264
7.37	IC50	43	nM	CHEMBL521775
7.36	IC50	44	nM	CHEMBL491921
7.36	IC50	44	nM	CHEMBL491948
7.24	IC50	58	nM	CHEMBL490760
7.17	IC50	67	nM	CHEMBL575156
7.17	IC50	67	nM	CHEMBL569399
7.16	IC50	70	nM	CHEMBL573551
7.11	IC50	78	nM	CHEMBL1163008
7.10	IC50	79	nM	CHEMBL2308139
7.10	IC50	80	nM	CHEMBL572610
7.02	IC50	95	nM	CHEMBL566967
7.01	IC50	97	nM	CHEMBL583468
7.00	IC50	99	nM	CHEMBL491131
6.97	IC50	106	nM	CHEMBL570564
6.96	IC50	110	nM	CHEMBL577160
6.92	IC50	120	nM	CHEMBL572605
6.92	IC50	120	nM	CHEMBL579051
6.92	IC50	121	nM	CHEMBL584964
6.91	IC50	123	nM	CHEMBL523990
6.89	IC50	130	nM	CHEMBL578037
6.85	IC50	142	nM	CHEMBL578605
6.84	IC50	144	nM	CHEMBL470918
6.73	IC50	185	nM	CHEMBL470730
6.72	IC50	190	nM	CHEMBL574029
6.71	IC50	196	nM	CHEMBL447672
6.68	IC50	210	nM	CHEMBL490746
6.68	IC50	210	nM	CHEMBL575155
6.66	IC50	220	nM	CHEMBL574934
6.65	IC50	226	nM	CHEMBL489920
6.64	IC50	230	nM	CHEMBL578249
6.61	IC50	245	nM	CHEMBL491125

PubChem BioAssay actives

111 with measured affinity, of 140 total; 50 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-fluoro-N-[[(4S)-2-oxo-6-(1H-pyrazol-5-yl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0026	uM
4-fluoro-N-[[2-oxo-6-(1H-pyrazol-5-yl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0040	uM
6,6-dimethyl-3-[5-methyl-2-(4-methylphenyl)-3-oxo-1H-pyrazol-4-yl]-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0087	uM
6,6-dimethyl-3-[5-methyl-3-oxo-2-[4-(trifluoromethoxy)phenyl]-1H-pyrazol-4-yl]-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0089	uM
6,6-dimethyl-3-[5-methyl-3-oxo-2-(4-propan-2-ylphenyl)-1H-pyrazol-4-yl]-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0100	uM
4-fluoro-N-[[2-oxo-6-(1H-pyrazol-4-yl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0100	uM
3-[2-(4-chlorophenyl)-5-methyl-3-oxo-1H-pyrazol-4-yl]-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0120	uM
4-fluoro-N-[[2-oxo-6-pyrazol-1-yl-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0130	uM
4-[4-[6,6-dimethyl-2,4-dioxo-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindol-3-yl]-5-methyl-3-oxo-1H-pyrazol-2-yl]benzonitrile	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0140	uM
N-[[6-chloro-2-oxo-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]-4-fluorobenzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0150	uM
3-[2-(4-methoxyphenyl)-5-methyl-3-oxo-1H-pyrazol-4-yl]-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0170	uM
1-[[6-chloro-2-oxo-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]-3-(4-fluorophenyl)urea	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0190	uM
(1R,5S)-3-(benzenesulfonyl)-N-(4-propan-2-ylphenyl)-8-azabicyclo[3.2.1]octane-8-carboxamide	420894: Inhibition of human ELOVL6 expressed in Pichia pastoris SND1168	ic50	0.0320	uM
N-[[6-chloro-2-oxo-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]-4-methylbenzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0380	uM
4-fluoro-N-[[2-oxo-6-(2-oxopyrrolidin-1-yl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0390	uM
3-[2-(3-methoxyphenyl)-5-methyl-3-oxo-1H-pyrazol-4-yl]-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0430	uM
3-[2-(3-chlorophenyl)-5-methyl-3-oxo-1H-pyrazol-4-yl]-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0440	uM
3-[2-(4-fluorophenyl)-5-methyl-3-oxo-1H-pyrazol-4-yl]-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0440	uM
3-[2-(2-methoxyphenyl)-5-methyl-3-oxo-1H-pyrazol-4-yl]-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0580	uM
(1S,4S,6R)-N-(4-propan-2-yloxyphenyl)-2-thiophen-3-ylsulfonyl-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.0670	uM
4-fluoro-N-[[2-oxo-6-(2-oxo-1,3-oxazolidin-3-yl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0670	uM
(1S,4S,6R)-2-(benzenesulfonyl)-N-(4-propan-2-yloxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.0700	uM
N-[1-[(5R)-3-(benzenesulfonyl)-8-azabicyclo[3.2.1]octan-8-yl]ethenyl]-4-tert-butylaniline	420894: Inhibition of human ELOVL6 expressed in Pichia pastoris SND1168	ic50	0.0780	uM
(1R,5S)-3-pyridin-2-ylsulfonyl-N-[4-(trifluoromethyl)phenyl]-8-azabicyclo[3.2.1]octane-8-carboxamide	420894: Inhibition of human ELOVL6 expressed in Pichia pastoris SND1168	ic50	0.0790	uM
(1S,4S,6R)-N-(4-propan-2-yloxyphenyl)-2-pyridin-3-ylsulfonyl-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.0800	uM
4-fluoro-N-[[2-oxo-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0950	uM
4-fluoro-N-[[2-oxo-6-(1H-1,2,4-triazol-5-yl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.0970	uM
3-(5-ethyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.0990	uM
4-fluoro-N-[[2-oxo-6-(2-oxo-1-pyridinyl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.1060	uM
(1S,4S,6R)-2-(3-fluorophenyl)sulfonyl-N-(4-propan-2-yloxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.1100	uM
(1S,4S,6R)-2-butylsulfonyl-N-(4-propan-2-yloxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.1200	uM
(1S,4S,6R)-N-(4-propan-2-yloxyphenyl)-2-pyridin-2-ylsulfonyl-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.1200	uM
4-fluoro-N-[[6-(1,2-oxazol-3-yl)-2-oxo-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.1210	uM
3-(5-methyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-1-phenyl-3-(trifluoromethyl)spiro[5,7-dihydroindole-6,1’-cyclobutane]-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.1230	uM
(1S,4S,6R)-2-(2-fluorophenyl)sulfonyl-N-(4-propan-2-yloxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.1300	uM
[6-chloro-2-oxo-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl N-(4-fluorophenyl)carbamate	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.1420	uM
1-cyclopropyl-6,6-dimethyl-3-(5-methyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.1440	uM
6,6-dimethyl-3-(5-methyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-1-propyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.1850	uM
(1S,4S,6R)-2-(4-fluorophenyl)sulfonyl-N-(4-propan-2-yloxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.1900	uM
6,6-dimethyl-3-[5-methyl-3-oxo-2-(4-phenoxyphenyl)-1H-pyrazol-4-yl]-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.1960	uM
1-cyclohexyl-6,6-dimethyl-3-(5-methyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.2100	uM
(1S,4S,6R)-N-(4-propan-2-yloxyphenyl)-2-propylsulfonyl-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.2100	uM
2-(1-methylimidazol-4-yl)sulfonyl-N-(4-propan-2-yloxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.2200	uM
1-(3-methoxyphenyl)-6,6-dimethyl-3-(5-methyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.2260	uM
(1S,4S,6R)-2-(1-methylimidazol-4-yl)sulfonyl-N-(4-propan-2-yloxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.2300	uM
1-(3-chlorophenyl)-6,6-dimethyl-3-(5-methyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.2450	uM
N-[[6-chloro-2-oxo-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]-3-fluorobenzamide	441666: Inhibition of human ELOVL6 expressed in Pichia pastoris using palmitoyl-CoA by long chain fatty acyl-CoA elongation assay	ic50	0.2610	uM
1-cyclobutyl-6,6-dimethyl-3-(5-methyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.2710	uM
6,6-dimethyl-3-(5-methyl-3-oxo-2-phenyl-1H-pyrazol-4-yl)-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione	350115: Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	ic50	0.2900	uM
(1S,4S,6R)-N-(4-propan-2-yloxyphenyl)-2-thiophen-2-ylsulfonyl-2-azabicyclo[2.2.2]octane-6-carboxamide	437046: Inhibition of C-terminal V5-epitope-tagged human ELOVL6 expressed in african green monkey COS7 cells	ic50	0.3200	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, affects cotreatment, increases expression, affects reaction	7
Benzo(a)pyrene	decreases expression, increases methylation	4
Acetaminophen	decreases expression	3
Air Pollutants	decreases expression, increases abundance	3
Cyclosporine	decreases expression, increases expression	3
Oleic Acid	increases expression, decreases expression, affects expression, affects cotreatment	3
Particulate Matter	decreases expression, increases abundance, affects cotreatment	3
sodium arsenite	decreases expression, increases expression	2
cobaltous chloride	decreases expression	2
cupric chloride	decreases expression	2
perfluorooctane sulfonic acid	decreases expression, increases expression	2
Rosiglitazone	affects cotreatment, increases expression, affects expression, affects reaction	2
Resveratrol	increases expression, affects cotreatment	2
Cisplatin	decreases expression	2
Dexamethasone	increases expression, affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Aflatoxin B1	decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
Palmitic Acid	affects cotreatment, affects expression, affects reaction	2
aristolochic acid I	decreases expression	1
saroglitazar	affects cotreatment, affects expression, affects reaction	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
lanifibranor	affects cotreatment, affects expression, affects reaction	1
dicrotophos	decreases expression	1
ethylbenzene	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1

ChEMBL screening assays

10 unique, capped per target: 10 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1007916	Binding	Inhibition of human ELOVL6 expressed in african green monkey COS7 cells assessed as palmitoyl-CoA elongation	Synthesis and evaluation of a novel indoledione class of long chain fatty acid elongase 6 (ELOVL6) inhibitors. — J Med Chem

Clinical trials (associated diseases)

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