ACAD11

Summary

ACAD11 (acyl-CoA dehydrogenase family member 11, HGNC:30211) is a protein-coding gene on chromosome 3q22.1, encoding Acyl-CoA dehydrogenase family member 11 (Q709F0). Participates in fatty acid beta-oxidation (FAO) and energy production in the central nervous system (CNS), and to a lesser extent in the liver.

This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene.

Source: NCBI Gene 84129 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 126 total — 1 pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes — 3 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_032169

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30211
Approved symbol	ACAD11
Name	acyl-CoA dehydrogenase family member 11
Location	3q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12592
Ensembl gene	ENSG00000240303
Ensembl biotype	protein_coding
OMIM	614288
Entrez	84129

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 12 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000264990, ENST00000469042, ENST00000477604, ENST00000481970, ENST00000485198, ENST00000487024, ENST00000489991, ENST00000496418, ENST00000507705, ENST00000510100, ENST00000878450, ENST00000878451, ENST00000878452, ENST00000878453, ENST00000878454, ENST00000878455, ENST00000928663, ENST00000964622, ENST00000964623, ENST00000964624

RefSeq mRNA: 1 — MANE Select: NM_032169 NM_032169

CCDS: CCDS3074

Canonical transcript exons

ENST00000264990 — 20 exons

Exon	Start	End
ENSE00001878063	132659603	132659809
ENSE00001938923	132558141	132559085
ENSE00003468786	132576944	132577015
ENSE00003488730	132628340	132628446
ENSE00003493133	132618634	132618772
ENSE00003493208	132575772	132575926
ENSE00003511767	132578796	132578881
ENSE00003528407	132603229	132603327
ENSE00003531966	132626691	132626817
ENSE00003536950	132559833	132559942
ENSE00003561470	132639492	132639656
ENSE00003574798	132619468	132619545
ENSE00003615704	132642677	132642802
ENSE00003617929	132644797	132644896
ENSE00003636557	132641972	132642133
ENSE00003640875	132630437	132630558
ENSE00003650849	132579492	132579558
ENSE00003660938	132631341	132631479
ENSE00003668578	132561101	132561217
ENSE00003673578	132605098	132605205

Expression profiles

Bgee: expression breadth ubiquitous, 143 present calls, max score 96.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1006 / max 142.3408, expressed in 1680 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44627	5.1641	1402
44630	1.2567	621
44629	1.1389	585
44631	1.1385	675
44628	1.0545	747
44626	0.2448	116
44625	0.1032	56

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	96.73	gold quality
liver	UBERON:0002107	96.37	gold quality
pituitary gland	UBERON:0000007	93.45	gold quality
left ovary	UBERON:0002119	93.30	gold quality
duodenum	UBERON:0002114	93.18	gold quality
right ovary	UBERON:0002118	93.09	gold quality
ascending aorta	UBERON:0001496	93.06	gold quality
adult mammalian kidney	UBERON:0000082	92.98	gold quality
thoracic aorta	UBERON:0001515	92.96	gold quality
body of uterus	UBERON:0009853	92.85	gold quality
corpus callosum	UBERON:0002336	92.76	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.71	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.68	gold quality
lower esophagus	UBERON:0013473	92.66	gold quality
ovary	UBERON:0000992	92.49	gold quality
stromal cell of endometrium	CL:0002255	92.37	gold quality
adenohypophysis	UBERON:0002196	92.36	gold quality
myometrium	UBERON:0001296	92.22	gold quality
body of pancreas	UBERON:0001150	92.17	gold quality
descending thoracic aorta	UBERON:0002345	92.11	gold quality
uterus	UBERON:0000995	91.88	gold quality
kidney	UBERON:0002113	91.84	gold quality
endometrium	UBERON:0001295	91.72	gold quality
mucosa of stomach	UBERON:0001199	91.70	gold quality
right adrenal gland cortex	UBERON:0035827	91.67	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.61	gold quality
prostate gland	UBERON:0002367	91.43	gold quality
calcaneal tendon	UBERON:0003701	91.43	gold quality
endocervix	UBERON:0000458	91.23	gold quality
right adrenal gland	UBERON:0001233	91.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting ACAD11, 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-340-5P	100.00	72.50	4437
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-122B-3P	99.21	68.90	1333
HSA-MIR-21-3P	99.21	68.95	1312
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-10A-5P	98.89	69.85	712
HSA-MIR-10B-5P	98.89	69.86	711
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-4780	98.57	64.75	611
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-6732-3P	98.17	67.52	802
HSA-MIR-4421	97.99	64.89	701
HSA-MIR-5585-5P	97.95	68.80	1024

Literature-anchored findings (GeneRIF, showing 2)

• ACAD11 utilizes substrates with primary carbon chain lengths between 20 and 26, with optimal activity towards C22CoA (PMID:21237683)
• Acad11, encoding a protein involved in fatty acid oxidation, is required for efficient OXPHOS and cell survival upon glucose starvation. (PMID:25704813)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	acad11	ENSDARG00000045411
mus_musculus	Acad11	ENSMUSG00000090150
rattus_norvegicus	Acad11	ENSRNOG00000010940
caenorhabditis_elegans		WBGENE00019599

Paralogs (14): ACADVL (ENSG00000072778), ACOX3 (ENSG00000087008), GCDH (ENSG00000105607), ACAD10 (ENSG00000111271), ACADL (ENSG00000115361), ACADM (ENSG00000117054), ACADS (ENSG00000122971), IVD (ENSG00000128928), ACAD8 (ENSG00000151498), ACOXL (ENSG00000153093), ACOX1 (ENSG00000161533), ACOX2 (ENSG00000168306), ACAD9 (ENSG00000177646), ACADSB (ENSG00000196177)

Protein

Protein identifiers

Acyl-CoA dehydrogenase family member 11 — Q709F0 (reviewed: Q709F0)

All UniProt accessions (4): D6RDI8, Q709F0, F8WEV0, H0Y9C6

UniProt curated annotations — full annotation on UniProt →

Function. Participates in fatty acid beta-oxidation (FAO) and energy production in the central nervous system (CNS), and to a lesser extent in the liver. Catalyzes the first step in FAO, which consists in the proR-proR stereospecific alpha,beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, with maximal activity towards saturated docosanoyl-CoA (CoA 22:0) in both the cerebellum and the liver. Among the different mitochondrial acyl-CoA dehydrogenases, its FAO activity overlaps with that of ACADV and ACADL, but plays a primary role in tissues where it is the main long-chain ACAD expressed, such as the CNS, where together with ACAD9, they accommodate the full spectrum of long chain fatty acid substrates.

Subunit / interactions. Homodimer.

Subcellular location. Peroxisome. Mitochondrion membrane.

Tissue specificity. Widely expressed with highest levels in brain (white matter of cerebellum) followed by liver, heart and kidney.

Pathway. Lipid metabolism; fatty acid beta-oxidation.

Similarity. Belongs to the acyl-CoA dehydrogenase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q709F0-1	1	yes
Q709F0-2	2
Q709F0-3	3

RefSeq proteins (1): NP_115545* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002575	Aminoglycoside_PTrfase	Domain
IPR006091	AcylCoA_DH/ox_M	Domain
IPR009075	AcylCo_DH/oxidase_C	Domain
IPR009100	AcylCoA_DH/oxidase_NM_dom_sf	Homologous_superfamily
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR013786	AcylCoA_DH/ox_N	Domain
IPR036250	AcylCo_DH-like_C	Homologous_superfamily
IPR037069	AcylCoA_DH/ox_N_sf	Homologous_superfamily
IPR041726	ACAD10_11_N	Domain
IPR046373	Acyl-CoA_Oxase/DH_mid-dom_sf	Homologous_superfamily
IPR050741

Pfam: PF00441, PF01636, PF02770, PF02771

Catalyzed reactions (Rhea), 4 shown:

• a long-chain 2,3-saturated fatty acyl-CoA + oxidized [electron-transfer flavoprotein] + H(+) = a long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein] (RHEA:17721)
• docosanoyl-CoA + oxidized [electron-transfer flavoprotein] + H(+) = (2E)-docosenoyl-CoA + reduced [electron-transfer flavoprotein] (RHEA:47228)
• tetracosanoyl-CoA + oxidized [electron-transfer flavoprotein] + H(+) = (2E)-tetracosenoyl-CoA + reduced [electron-transfer flavoprotein] (RHEA:47232)
• eicosanoyl-CoA + oxidized [electron-transfer flavoprotein] + H(+) = (2E)-eicosenoyl-CoA + reduced [electron-transfer flavoprotein] (RHEA:47236)

UniProt features (49 total): helix 21, binding site 9, strand 7, modified residue 3, sequence conflict 3, splice variant 2, turn 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2WBI	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q709F0-F1	91.00	0.74

Functional residue map

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

Ligand- & substrate-binding residues (9): 504–514 (in other chain); 514; 538–540 (in other chain); 629–632; 657; 727–731; 727 (in other chain); 755; 756–758 (in other chain)

Post-translational modifications (3): 177, 324, 391

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-77289	Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 75 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_DEHYDROGENASE, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, GCM_DDX11, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, REACTOME_MITOCHONDRIAL_FATTY_ACID_BETA_OXIDATION

GO Biological Process (4): fatty acid beta-oxidation (GO:0006635), fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)

GO Molecular Function (8): acyl-CoA dehydrogenase activity (GO:0003995), long-chain fatty acyl-CoA dehydrogenase activity (GO:0004466), very-long-chain fatty acyl-CoA dehydrogenase activity (GO:0017099), flavin adenine dinucleotide binding (GO:0050660), medium-chain fatty acyl-CoA dehydrogenase activity (GO:0070991), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)

GO Cellular Component (7): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), peroxisome (GO:0005777), mitochondrial membrane (GO:0031966), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Fatty acid metabolism	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
acyl-CoA dehydrogenase activity	4
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
fatty acid beta-oxidation	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor	1
nucleotide binding	1
anion binding	1
binding	1
catalytic activity	1
oxidoreductase activity	1
intracellular anatomical structure	1
cytoplasm	1
organelle inner membrane	1
mitochondrial membrane	1
microbody	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

1400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACAD11	ECI2	O75521	584
ACAD11	TYSND1	Q2T9J0	475
ACAD11	NBDY	A0A0U1RRE5	466
ACAD11	ACOX1	Q15067	449
ACAD11	HSDL2	Q6YN16	449
ACAD11	DECR1	Q16698	446
ACAD11	CPT1C	Q8TCG5	446
ACAD11	FAF2	Q96CS3	420
ACAD11	EHHADH	Q08426	413
ACAD11	DHRS3	O75911	413
ACAD11	ECI1	P42126	403
ACAD11	ACAA2	P42765	398
ACAD11	DECR2	Q9NUI1	393
ACAD11	HADHB	P55084	393
ACAD11	HSD17B4	P51659	385

IntAct

169 interactions, top by confidence:

A	B	Type	Score
CUL9	TP53	psi-mi:“MI:0914”(association)	0.920
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
MED7	MED19	psi-mi:“MI:0914”(association)	0.840
CD2BP2	ACAD11	psi-mi:“MI:0915”(physical association)	0.800
CD2BP2	SNRNP200	psi-mi:“MI:0914”(association)	0.800
COPRS	PRMT5	psi-mi:“MI:0914”(association)	0.770
ISY1	AQR	psi-mi:“MI:0914”(association)	0.740
POLR3E	POLR3A	psi-mi:“MI:0914”(association)	0.730
ZNF8	TRIM28	psi-mi:“MI:0914”(association)	0.730
SART3	PRPF4	psi-mi:“MI:0914”(association)	0.730
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
NEMP1	RGPD8	psi-mi:“MI:0914”(association)	0.640
IFT22	IFT56	psi-mi:“MI:0914”(association)	0.640
SDF4	ACAD11	psi-mi:“MI:0914”(association)	0.640
TRIM44	ODAD3	psi-mi:“MI:0914”(association)	0.530
DCAF8	DCAF8L1	psi-mi:“MI:0914”(association)	0.530
FAM9A	AP3B1	psi-mi:“MI:0914”(association)	0.530
TRAK2	OGT	psi-mi:“MI:0914”(association)	0.530
DUSP19	NARS1	psi-mi:“MI:0914”(association)	0.530
SDF4	GTPBP6	psi-mi:“MI:0914”(association)	0.530
TCL1B	MED14	psi-mi:“MI:0914”(association)	0.530
GTSE1	GAST	psi-mi:“MI:0914”(association)	0.530
TRAFD1	ACAD11	psi-mi:“MI:0914”(association)	0.530
PDYN	ACAD11	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530

BioGRID (235): ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), UBXN7 (Affinity Capture-Western), ACAD11 (Affinity Capture-Western)

ESM2 similar proteins: B1WC61, B3DMA2, O32176, O64894, O65201, P07872, P12007, P15650, P26440, P28330, P45953, P45954, P48818, P49748, P50544, P51174, P70584, P79273, P79274, Q0NXR6, Q15067, Q3SZI8, Q3SZP5, Q47146, Q54IM8, Q54RR5, Q5EAD4, Q5R778, Q5RBD5, Q5RC19, Q5RF40, Q5ZHT1, Q60HI0, Q64428, Q6JQN1, Q709F0, Q80XL6, Q8HXY7, Q8JZN5, Q8X7R2

Diamond homologs: A0R4Z9, B3DMA2, P96831, Q54IM8, Q5R778, Q5ZHT1, Q6JQN1, Q709F0, Q80XL6, Q8K370, Q8RWZ3, Q9KJE8, B2AM55, D3JV03, I6Y3V5, I6YCA3, P12007, P26440, P63430, P71858, P95280, P96855, P9WQF6, P9WQF7, Q2LQP0, Q5LLW7, Q5P5Z9, Q5RBD5, Q9JHI5, G3KIM8, O34421, P15651, P16219, P34275, P45857, P52042, P79273, Q06319, Q07417, Q0NXR6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	108
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
832228	NC_000003.12:g.(?132626691)(132722355_?)del	Pathogenic

SpliceAI

3406 predictions. Top by Δscore:

Variant	Effect	Δscore
3:132559081:CATAC:C	acceptor_gain	1.0000
3:132559083:TAC:T	acceptor_gain	1.0000
3:132559086:CTGA:C	acceptor_loss	1.0000
3:132559087:T:G	acceptor_loss	1.0000
3:132559831:A:AC	donor_gain	1.0000
3:132559832:C:CC	donor_gain	1.0000
3:132559939:CAAT:C	acceptor_gain	1.0000
3:132559943:C:CC	acceptor_gain	1.0000
3:132559945:A:C	acceptor_gain	1.0000
3:132561095:CCTCA:C	donor_loss	1.0000
3:132561096:CTCAC:C	donor_loss	1.0000
3:132561097:TCACC:T	donor_loss	1.0000
3:132561098:CACCT:C	donor_loss	1.0000
3:132561099:ACCTC:A	donor_loss	1.0000
3:132561100:CCT:C	donor_gain	1.0000
3:132561213:ACCTC:A	acceptor_gain	1.0000
3:132561214:CCTCC:C	acceptor_gain	1.0000
3:132561215:CTC:C	acceptor_gain	1.0000
3:132561216:TC:T	acceptor_gain	1.0000
3:132561217:CCTA:C	acceptor_gain	1.0000
3:132561218:CT:C	acceptor_loss	1.0000
3:132561219:T:C	acceptor_loss	1.0000
3:132561220:A:C	acceptor_gain	1.0000
3:132576939:CTCA:C	donor_loss	1.0000
3:132576940:TCA:T	donor_loss	1.0000
3:132576941:CACCT:C	donor_loss	1.0000
3:132576943:C:CT	donor_loss	1.0000
3:132577011:ATTAT:A	acceptor_gain	1.0000
3:132577012:TTAT:T	acceptor_gain	1.0000
3:132577012:TTATC:T	acceptor_loss	1.0000

AlphaMissense

5123 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:132631455:A:G	W243R	0.988
3:132631455:A:T	W243R	0.988
3:132603308:A:C	S514R	0.985
3:132603308:A:T	S514R	0.985
3:132603310:T:G	S514R	0.985
3:132603233:G:C	S539R	0.980
3:132603233:G:T	S539R	0.980
3:132603235:T:G	S539R	0.980
3:132618765:G:T	A428D	0.980
3:132631467:C:G	A239P	0.978
3:132603230:A:C	S540R	0.976
3:132603230:A:T	S540R	0.976
3:132603232:T:G	S540R	0.976
3:132603238:A:G	W538R	0.976
3:132603238:A:T	W538R	0.976
3:132605172:C:T	G483E	0.976
3:132578855:A:T	V572D	0.975
3:132578866:G:C	S568R	0.975
3:132578866:G:T	S568R	0.975
3:132578868:T:G	S568R	0.975
3:132618737:A:C	F437L	0.974
3:132618737:A:T	F437L	0.974
3:132618739:A:G	F437L	0.974
3:132642698:A:C	F118L	0.974
3:132642698:A:T	F118L	0.974
3:132642700:A:G	F118L	0.974
3:132605108:G:C	F504L	0.973
3:132605108:G:T	F504L	0.973
3:132605110:A:G	F504L	0.973
3:132561186:C:G	R678P	0.972

dbSNP variants (sampled 300 via entrez): RS1000006782 (3:132660511 G>A,C), RS1000006957 (3:132598059 A>G), RS1000020049 (3:132561612 C>T), RS1000034535 (3:132647196 T>A), RS1000054354 (3:132597749 C>T), RS1000072621 (3:132568523 C>T), RS1000090183 (3:132654518 C>G), RS1000110172 (3:132653659 C>T), RS1000125661 (3:132636056 A>C), RS1000147263 (3:132587036 G>A), RS1000197094 (3:132617696 T>A,C), RS1000197260 (3:132632947 T>A,C), RS1000199190 (3:132629778 G>A), RS1000203243 (3:132626012 A>C,G), RS1000254103 (3:132625513 C>G)

Disease associations

OMIM: gene MIM:614288 | disease phenotypes: MIM:256100

GenCC curated gene-disease

Mondo (1): nephronophthisis (MONDO:0019005)

Orphanet (1): Nephronophthisis (Orphanet:655)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000090	Nephronophthisis

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST002222_14	LDL cholesterol	2.000000e-09
GCST002223_7	HDL cholesterol	5.000000e-09
GCST002541_3	Menarche (age at onset)	4.000000e-11
GCST004232_68	HDL cholesterol levels	2.000000e-09
GCST004233_22	LDL cholesterol levels	1.000000e-09
GCST010002_440	Refractive error	5.000000e-09
GCST010083_315	Hemoglobin levels	5.000000e-11
GCST010699_54	Brain morphology (min-P)	5.000000e-08
GCST010701_80	Cortical surface area (MOSTest)	5.000000e-09
GCST010702_60	Subcortical volume (MOSTest)	6.000000e-12
GCST010703_12	Brain morphology (MOSTest)	9.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004703	age at menarche
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105707 (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: 125,133 (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
CHEMBL553	ERLOTINIB	4	108,300
CHEMBL601719	CRIZOTINIB	4	14,403
CHEMBL259084	MLN-8054	1	2,430

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs41272317	ACAD11		0.00	0

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
6.87	Kd	134.2	nM	CHEMBL5653589
6.86	ED50	136.7	nM	CHEMBL5653589
6.65	Kd	223.8	nM	CHEMBL3752910
6.64	ED50	227.9	nM	CHEMBL3752910
5.72	Kd	1916	nM	CRIZOTINIB
5.50	Kd	3156	nM	MLN-8054
5.38	Kd	4147	nM	ERLOTINIB

PubChem BioAssay actives

5 with measured affinity, of 214 total; 5 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147778: Binding affinity to human ACAD11 incubated for 45 mins by Kinobead based pull down assay	kd	0.1343	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147778: Binding affinity to human ACAD11 incubated for 45 mins by Kinobead based pull down assay	kd	0.2238	uM
Crizotinib	1424893: 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	1.9160	uM
4-[[9-chloro-7-(2,6-difluorophenyl)-5H-pyrimido[5,4-d][2]benzazepin-2-yl]amino]benzoic acid	1424893: 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	3.1560	uM
Erlotinib	1424893: 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	4.1470	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	5
Benzo(a)pyrene	decreases expression	4
Aflatoxin B1	affects expression, decreases expression, decreases methylation	3
trichostatin A	increases expression	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression, increases oxidation	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
lasiocarpine	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases oxidation, increases abundance	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	decreases expression, increases abundance	1
methacrylaldehyde	increases expression, increases oxidation, increases abundance, affects cotreatment	1
entinostat	increases expression	1
ICG 001	increases expression	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Panobinostat	increases expression	1
Acrolein	increases expression, increases oxidation, increases abundance, affects cotreatment	1
Ethanol	increases abundance, affects cotreatment, decreases expression	1
Cadmium	increases abundance, increases expression	1
Chenodeoxycholic Acid	decreases expression	1
Cisplatin	affects expression	1
Copper	affects binding, increases 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
CHEMBL3991606	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

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C7ZB	HAP1 ACAD11 (-)	Cancer cell line	Male
CVCL_DX20	HAP1 ACAD10 (-) ACAD11 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01022957	Not specified	COMPLETED	Nephronophthisis : Clinical and Genetic Study
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT05286632	Not specified	COMPLETED	KidneYou - Innovative Digital Therapy
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT06648044	Not specified	RECRUITING	Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies