ACAD10

Summary

ACAD10 (acyl-CoA dehydrogenase family member 10, HGNC:21597) is a protein-coding gene on chromosome 12q24.12, encoding Acyl-CoA dehydrogenase family member 10 (Q6JQN1). Acyl-CoA dehydrogenase only active with R- and S-2-methyl-C15-CoA.

This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Source: NCBI Gene 80724 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 186 total
• Druggable target: yes — 7 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_025247

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21597
Approved symbol	ACAD10
Name	acyl-CoA dehydrogenase family member 10
Location	12q24.12
Locus type	gene with protein product
Status	Approved
Aliases	MGC5601
Ensembl gene	ENSG00000111271
Ensembl biotype	protein_coding
OMIM	611181
Entrez	80724

Gene structure

Transcript identifiers

Ensembl transcripts: 72 — 56 protein_coding, 9 retained_intron, 7 protein_coding_CDS_not_defined

ENST00000313698, ENST00000413681, ENST00000455480, ENST00000502746, ENST00000503490, ENST00000504803, ENST00000505487, ENST00000507135, ENST00000507683, ENST00000507688, ENST00000508303, ENST00000509936, ENST00000511915, ENST00000512792, ENST00000514615, ENST00000514847, ENST00000515283, ENST00000546647, ENST00000547491, ENST00000549590, ENST00000550198, ENST00000552177, ENST00000552706, ENST00000552965, ENST00000893895, ENST00000893896, ENST00000893897, ENST00000893898, ENST00000893899, ENST00000893900, ENST00000893901, ENST00000893902, ENST00000893903, ENST00000893904, ENST00000893905, ENST00000893906, ENST00000893907, ENST00000893908, ENST00000893909, ENST00000893910, ENST00000893911, ENST00000893912, ENST00000893913, ENST00000893914, ENST00000893915, ENST00000893916, ENST00000893917, ENST00000893918, ENST00000893919, ENST00000893920, ENST00000893921, ENST00000893922, ENST00000893923, ENST00000893924, ENST00000893925, ENST00000893926, ENST00000938929, ENST00000938930, ENST00000938931, ENST00000938932, ENST00000938933, ENST00000948206, ENST00000948207, ENST00000948208, ENST00000948209, ENST00000948210, ENST00000948211, ENST00000948212, ENST00000948213, ENST00000948214, ENST00000948215, ENST00000948216

RefSeq mRNA: 2 — MANE Select: NM_025247 NM_001136538, NM_025247

CCDS: CCDS31903, CCDS44973

Canonical transcript exons

ENST00000313698 — 21 exons

Exon	Start	End
ENSE00001474481	111749173	111749345
ENSE00002065470	111756333	111757099
ENSE00002077790	111686053	111686239
ENSE00003472783	111753772	111753915
ENSE00003478031	111702162	111702310
ENSE00003486444	111746144	111746284
ENSE00003491499	111721671	111721739
ENSE00003495645	111715821	111715962
ENSE00003498370	111692697	111692896
ENSE00003499263	111733923	111734068
ENSE00003503330	111755668	111755745
ENSE00003545191	111747295	111747385
ENSE00003574961	111747049	111747186
ENSE00003580150	111744643	111745043
ENSE00003587742	111709526	111709684
ENSE00003624220	111705738	111705932
ENSE00003625962	111736831	111737004
ENSE00003635701	111727962	111728143
ENSE00003638011	111748317	111748475
ENSE00003687020	111729806	111729956
ENSE00003691992	111712498	111712657

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 91.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.8079 / max 96.2539, expressed in 1782 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128044	9.8079	1782

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	91.35	gold quality
right lobe of liver	UBERON:0001114	90.46	gold quality
parotid gland	UBERON:0001831	89.56	silver quality
mucosa of transverse colon	UBERON:0004991	88.86	gold quality
adult mammalian kidney	UBERON:0000082	88.77	gold quality
right adrenal gland	UBERON:0001233	88.75	gold quality
right adrenal gland cortex	UBERON:0035827	88.68	gold quality
olfactory bulb	UBERON:0002264	88.66	gold quality
right uterine tube	UBERON:0001302	88.32	gold quality
body of pancreas	UBERON:0001150	88.09	gold quality
metanephros cortex	UBERON:0010533	87.98	gold quality
left adrenal gland cortex	UBERON:0035825	87.98	gold quality
right lobe of thyroid gland	UBERON:0001119	87.96	gold quality
left adrenal gland	UBERON:0001234	87.96	gold quality
granulocyte	CL:0000094	87.93	gold quality
rectum	UBERON:0001052	87.90	gold quality
adrenal cortex	UBERON:0001235	87.79	gold quality
type B pancreatic cell	CL:0000169	87.68	gold quality
heart left ventricle	UBERON:0002084	87.49	gold quality
cardiac ventricle	UBERON:0002082	87.40	gold quality
transverse colon	UBERON:0001157	87.37	gold quality
adrenal tissue	UBERON:0018303	87.16	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.11	gold quality
adrenal gland	UBERON:0002369	87.06	gold quality
colonic epithelium	UBERON:0000397	87.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.02	gold quality
body of stomach	UBERON:0001161	86.96	gold quality
buccal mucosa cell	CL:0002336	86.90	gold quality
pituitary gland	UBERON:0000007	86.85	gold quality
left lobe of thyroid gland	UBERON:0001120	86.56	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.47
E-MTAB-6379	no	48.68

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR

miRNA regulators (miRDB)

18 targeting ACAD10, 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-6793-5P	99.97	65.95	758
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-5190	99.15	67.76	1234
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-5008-3P	98.73	67.50	1433
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-3929	98.32	65.58	1026
HSA-MIR-124-5P	98.11	67.65	1095
HSA-MIR-4445-5P	97.21	66.16	832
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888

Literature-anchored findings (GeneRIF, showing 7)

• cDNA ACAD10 maps to chromosome 12q24.1 (PMID:15560374)
• Results propose that ACAD10 variation may increase type 2 diabetes susceptibility by impairing insulin sensitivity via abnormal lipid oxidation. (PMID:20390405)
• ACAD10 has significant activity towards the branched-chain substrates R and S, 2 methyl-C15-CoA and is highly expressed in fetal but not adult brain (PMID:21237683)
• Six polymorphisms (rs12229654 at 12q24.1, rs671 of ALDH2, rs11066015 of ACAD10, rs2074356 and rs11066280 of HECTD4, and rs3782886 of BRAP) were found to be associated with both systolic and diastolic blood pressure, with those at 12q24.1 or in ACAD10 or BRAP being novel determinants of blood pressure in Japanese. (PMID:28562329)
• Two imaging features (total en face area of drusen restricted to a circular area 3 mm from the fovea and mean drusen reflectivity) and 1 genetic variant (ACAD10 locus) were associated with conversion to neovascular age-related macular degeneration (AMD). (PMID:31021381)
• ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice. (PMID:33301490)
• A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences. (PMID:34828409)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
mus_musculus	Acad10	ENSMUSG00000029456
mus_musculus	Acad12	ENSMUSG00000042647
rattus_norvegicus	Acad10	ENSRNOG00000037815
caenorhabditis_elegans	acox-1.1	WBGENE00008564
caenorhabditis_elegans	acox-1.2	WBGENE00008565
caenorhabditis_elegans	acox-1.3	WBGENE00008566
caenorhabditis_elegans	acox-1.4	WBGENE00008567
caenorhabditis_elegans		WBGENE00015894
caenorhabditis_elegans	acdh-1	WBGENE00016943
caenorhabditis_elegans		WBGENE00019406
caenorhabditis_elegans		WBGENE00020366

Paralogs (14): ACADVL (ENSG00000072778), ACOX3 (ENSG00000087008), GCDH (ENSG00000105607), 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

Acyl-CoA dehydrogenase family member 10 — Q6JQN1 (reviewed: Q6JQN1)

All UniProt accessions (7): D6RFF6, Q6JQN1, F8VXK4, F8W0Q4, F8W179, F8W1A9, F8W1I9

UniProt curated annotations — full annotation on UniProt →

Function. Acyl-CoA dehydrogenase only active with R- and S-2-methyl-C15-CoA.

Tissue specificity. Widely expressed with highest expression in fetal brain, followed by heart, muscle, kidney and adult brain. Expression levels varying from isoform to isoform.

Similarity. Belongs to the acyl-CoA dehydrogenase family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q6JQN1-1	1	yes
Q6JQN1-2	2
Q6JQN1-3	3
Q6JQN1-4	4
Q6JQN1-5	5

RefSeq proteins (2): NP_001130010, NP_079523* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002575	Aminoglycoside_PTrfase	Domain
IPR006091	AcylCoA_DH/ox_M	Domain
IPR006439	HAD-SF_hydro_IA	Family
IPR009075	AcylCo_DH/oxidase_C	Domain
IPR009100	AcylCoA_DH/oxidase_NM_dom_sf	Homologous_superfamily
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR011945	HAD-SF_ppase_IA/epoxid_hydro_N	Domain
IPR013786	AcylCoA_DH/ox_N	Domain
IPR023198	PGP-like_dom2	Homologous_superfamily
IPR023214	HAD_sf	Homologous_superfamily
IPR036250	AcylCo_DH-like_C	Homologous_superfamily
IPR036412	HAD-like_sf	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
IPR052898	ACAD10-like	Family

Pfam: PF00441, PF00702, PF01636, PF02770, PF02771

Catalyzed reactions (Rhea), 1 shown:

• a 2,3-saturated acyl-CoA + A = a 2,3-dehydroacyl-CoA + AH2 (RHEA:48608)

UniProt features (28 total): splice variant 7, sequence conflict 6, binding site 5, modified residue 5, sequence variant 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6JQN1-F1	86.83	0.67

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 (5): 792–802; 828; 943; 1013; 1044

Post-translational modifications (5): 1052, 413, 427, 427, 1052

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: 104 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_DEHYDROGENASE, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, REACTOME_MITOCHONDRIAL_FATTY_ACID_BETA_OXIDATION, GOBP_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GOBP_LIPID_OXIDATION, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_MITOCHONDRIAL_MATRIX

GO Biological Process (2): fatty acid beta-oxidation (GO:0006635), fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)

GO Molecular Function (4): acyl-CoA dehydrogenase activity (GO:0003995), flavin adenine dinucleotide binding (GO:0050660), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)

GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

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
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
acyl-CoA dehydrogenase activity	1
fatty acid beta-oxidation	1
oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor	1
nucleotide binding	1
anion binding	1
catalytic activity	1
oxidoreductase activity	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACAD10	ALDH2	P05091	672
ACAD10	HECTD4	Q9Y4D8	667
ACAD10	TMEM116	Q8NCL8	647
ACAD10	CUX2	O14529	582
ACAD10	NAA25	Q14CX7	552
ACAD10	PRELID3B	Q9Y3B1	526
ACAD10	KIAA0232	Q92628	523
ACAD10	OR52E4	Q8NGH9	478
ACAD10	OR4F6	Q8NGB9	477
ACAD10	COL6A5	A8TX70	469
ACAD10	ECI2	O75521	454
ACAD10	CIMIP1	Q9H1P6	446
ACAD10	ACAD8	Q9UKU7	441
ACAD10	ELOVL7	A1L3X0	439
ACAD10	CDSN	Q15517	433
ACAD10	SLC17A3	O00476	433

IntAct

111 interactions, top by confidence:

A	B	Type	Score
NDUFAF5	NDUFAF8	psi-mi:“MI:0914”(association)	0.750
BPNT1	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
LPAR4	POTEF	psi-mi:“MI:0914”(association)	0.530
TMEM108	TCAF2	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
YBEY	NME4	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
SLC31A1	PRORP	psi-mi:“MI:0914”(association)	0.530
NTRK3	FAM171A2	psi-mi:“MI:0914”(association)	0.480
ACAD10	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400
Msn	ELOC	psi-mi:“MI:0914”(association)	0.350
PCDHA12	KLRG2	psi-mi:“MI:0914”(association)	0.350
BSG	METTL15	psi-mi:“MI:0914”(association)	0.350
NTRK3	FAM171A2	psi-mi:“MI:0914”(association)	0.350
YBEY	NUDT19	psi-mi:“MI:0914”(association)	0.350

BioGRID (131): ACAD10 (Affinity Capture-MS), ACAD10 (Affinity Capture-MS), ACAD10 (Affinity Capture-MS), ACAD10 (Affinity Capture-MS), ETNK1 (Co-fractionation), FLNA (Co-fractionation), GARS (Co-fractionation), OXSR1 (Co-fractionation), PLS1 (Co-fractionation), TIPRL (Co-fractionation), ACAD10 (Affinity Capture-MS), ACAD10 (Affinity Capture-MS), ACAD10 (Affinity Capture-MS), ACAD10 (Affinity Capture-MS), ACAD10 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U2WCB2, A6NK44, A6QLI6, A8XX92, A9NNH7, B9FK36, O42764, P05165, P07997, P08680, P0DTA4, P13196, P13446, P14882, P16635, P22557, P43090, P54889, Q19842, Q28CR0, Q2KIZ3, Q2QMG2, Q42523, Q42777, Q4KLB0, Q4WHU1, Q502D1, Q553V2, Q5I0C3, Q5R557, Q5R7K1, Q5R9R9, Q612F5, Q63147, Q6CDR5, Q6JQN1, Q759G5, Q872T7, Q8K370, Q91ZA3

Diamond homologs: A0R4Z9, B3DMA2, P96831, Q54IM8, Q5R778, Q5ZHT1, Q6JQN1, Q709F0, Q80XL6, Q8K370, Q8RWZ3, Q9KJE8, A5A6I0, A8WP91, A8XNF0, B1WC61, B9U6P5, C3UVB0, D3JV03, F8GVD3, G3KIM8, H6LGM6, I6Y3V5, J7TF92, K4L7X3, O32176, O34421, O54143, P08503, P0A9U8, P0A9U9, P0A9V0, P11310, P12007, P15650, P15651, P16219, P26440, P28330, P34275

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	146
Likely benign	11
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

4445 predictions. Top by Δscore:

Variant	Effect	Δscore
12:111692694:C:G	acceptor_gain	1.0000
12:111692695:A:AG	acceptor_gain	1.0000
12:111692696:G:GG	acceptor_gain	1.0000
12:111692696:GCCTC:G	acceptor_gain	1.0000
12:111709681:TAAG:T	donor_loss	1.0000
12:111709683:AGGTA:A	donor_loss	1.0000
12:111709684:GG:G	donor_loss	1.0000
12:111709685:GTAAT:G	donor_loss	1.0000
12:111721735:TCAAG:T	donor_loss	1.0000
12:111721736:CAAG:C	donor_loss	1.0000
12:111721737:AAG:A	donor_loss	1.0000
12:111721738:AGGT:A	donor_loss	1.0000
12:111721739:GG:G	donor_loss	1.0000
12:111721740:G:GA	donor_loss	1.0000
12:111721741:T:A	donor_loss	1.0000
12:111727960:A:AG	acceptor_gain	1.0000
12:111727961:G:GG	acceptor_gain	1.0000
12:111727961:GT:G	acceptor_gain	1.0000
12:111727961:GTGTC:G	acceptor_gain	1.0000
12:111733912:C:CA	acceptor_gain	1.0000
12:111734065:AGAG:A	donor_loss	1.0000
12:111734066:GAGG:G	donor_loss	1.0000
12:111734067:AGGTA:A	donor_loss	1.0000
12:111734068:GGTA:G	donor_loss	1.0000
12:111734069:G:GA	donor_loss	1.0000
12:111734070:T:A	donor_loss	1.0000
12:111736825:TCGCA:T	acceptor_loss	1.0000
12:111736826:CGCAG:C	acceptor_loss	1.0000
12:111736827:GCAGG:G	acceptor_loss	1.0000
12:111736828:CAG:C	acceptor_loss	1.0000

AlphaMissense

6900 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:111733978:T:A	W484R	0.999
12:111733978:T:C	W484R	0.999
12:111715906:G:C	R312S	0.995
12:111715906:G:T	R312S	0.995
12:111733976:A:T	D483V	0.995
12:111733980:G:C	W484C	0.995
12:111733980:G:T	W484C	0.995
12:111715905:G:C	R312T	0.994
12:111715956:A:T	E329V	0.994
12:111715905:G:T	R312M	0.993
12:111755696:A:T	K997I	0.993
12:111733977:C:A	D483E	0.992
12:111733977:C:G	D483E	0.992
12:111733934:T:C	L469P	0.991
12:111715909:G:C	K313N	0.990
12:111715909:G:T	K313N	0.990
12:111721706:T:A	V343D	0.990
12:111727978:T:C	F360L	0.990
12:111727980:C:A	F360L	0.990
12:111727980:C:G	F360L	0.990
12:111729943:C:G	H461D	0.989
12:111715841:T:C	F291L	0.988
12:111715843:T:A	F291L	0.988
12:111715843:T:G	F291L	0.988
12:111715861:T:A	N297K	0.988
12:111715861:T:G	N297K	0.988
12:111715902:T:C	L311P	0.988
12:111733979:G:C	W484S	0.988
12:111715957:G:C	E329D	0.987
12:111715957:G:T	E329D	0.987

dbSNP variants (sampled 300 via entrez): RS1000155858 (12:111720439 T>C), RS1000171252 (12:111701764 A>G), RS1000180116 (12:111747280 A>G), RS1000232280 (12:111747114 G>A), RS1000268463 (12:111693886 C>G), RS1000272478 (12:111709810 C>A), RS1000328510 (12:111723000 T>G), RS1000340970 (12:111740603 C>A,G), RS1000393036 (12:111740315 G>A), RS1000566423 (12:111745722 G>A), RS1000569384 (12:111684480 T>A,C), RS1000606652 (12:111701522 A>G), RS1000650410 (12:111728019 C>T), RS1000690869 (12:111739698 C>T), RS1000702368 (12:111739387 C>G)

Disease associations

OMIM: gene MIM:611181 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST001089_9	Esophageal cancer	7.000000e-21
GCST001845_2	Coronary heart disease	5.000000e-11
GCST003017_10	Colorectal cancer	2.000000e-08
GCST003017_5	Colorectal cancer	2.000000e-08
GCST003219_6	Advanced age-related macular degeneration	1.000000e-09
GCST004121_4	Fibrinogen levels	4.000000e-12
GCST004131_54	Inflammatory bowel disease	2.000000e-09
GCST004132_84	Crohn’s disease	7.000000e-07
GCST005329_1	Coffee consumption	2.000000e-16
GCST005439_1	Response to alcohol consumption (flushing response)	2.000000e-14
GCST005440_17	Alcohol dependence symptom count	6.000000e-10
GCST005441_8	Alcohol consumption (max-drinks)	2.000000e-12
GCST005951_1	Body mass index	4.000000e-12
GCST005951_75	Body mass index	2.000000e-11
GCST007876_6	Estimated glomerular filtration rate	2.000000e-11
GCST007918_18	Serum uric acid levels	1.000000e-10
GCST008047_2	Platelet count	5.000000e-09
GCST008597_3	Fish intake frequency	5.000000e-11
GCST010275_1	Renal overload gout	4.000000e-12
GCST010476_10	Myocardial infarction	3.000000e-19
GCST010512_27	Serum uric acid levels	7.000000e-10
GCST010867_8	Coronary artery disease	9.000000e-79
GCST011353_16	Serum alkaline phosphatase levels	2.000000e-08
GCST011499_1	Fish consumption	6.000000e-11
GCST011964_4	Waist-to-hip ratio adjusted for BMI	2.000000e-14

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:1001492	atrophic macular degeneration
EFO:0006782	cups of coffee per day measurement
EFO:0007835	alcohol dependence measurement
EFO:0004340	body mass index
EFO:0004761	uric acid measurement
EFO:0004309	platelet count
EFO:0010139	fish consumption measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105816 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

7 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 122,894 (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
CHEMBL939	GEFITINIB	4	117,814
CHEMBL483158	ALISERTIB	3	2,305
CHEMBL495727	AT-9283	2	1,376
CHEMBL1090479	GSK-1070916	1	177
CHEMBL3544932	TAK-901	1	557
CHEMBL3600873	MK-5108	1	14
CHEMBL482967	CYC-116	1	651

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

ChEMBL bioactivities

9 potent at pChembl≥5 of 12 total, top 9 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.11	Kd	78	nM	ALISERTIB
6.84	Kd	144	nM	AT-9283
6.38	Kd	415.5	nM	CHEMBL5653589
6.36	ED50	433.5	nM	CHEMBL5653589
6.14	Kd	716	nM	CYC-116
5.95	Kd	1111	nM	GSK-1070916
5.61	Kd	2472	nM	MK-5108
5.47	Kd	3420	nM	TAK-901
5.40	Kd	3957	nM	HYDROXYFASUDIL

PubChem BioAssay actives

7 with measured affinity, of 221 total; 7 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-[[9-chloro-7-(2-fluoro-6-methoxyphenyl)-5H-pyrimido[5,4-d][2]benzazepin-2-yl]amino]-2-methoxybenzoic acid	1424892: 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	0.0780	uM
1-cyclopropyl-3-[5-[6-(morpholin-4-ylmethyl)-1H-benzimidazol-2-yl]-1H-pyrazol-4-yl]urea	1424892: 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	0.1440	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147777: Binding affinity to human ACAD10 incubated for 45 mins by Kinobead based pull down assay	kd	0.4155	uM
4-methyl-5-[2-(4-morpholin-4-ylanilino)pyrimidin-4-yl]-1,3-thiazol-2-amine	1424892: 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	0.7160	uM
3-[4-[4-[2-[3-[(dimethylamino)methyl]phenyl]-1H-pyrrolo[2,3-b]pyridin-4-yl]-1-ethylpyrazol-3-yl]phenyl]-1,1-dimethylurea	1424892: 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	1.1110	uM
5-(3-ethylsulfonylphenyl)-3,8-dimethyl-N-(1-methylpiperidin-4-yl)-9H-pyrido[2,3-b]indole-7-carboxamide	1424892: 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	3.4200	uM
5-(1,4-diazepan-1-ylsulfonyl)-2H-isoquinolin-1-one	1424892: 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	3.9570	uM

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
glycidyl methacrylate	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Doxorubicin	decreases expression	1
Gallic Acid	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	increases expression	1
Urethane	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3991605	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

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_DX20	HAP1 ACAD10 (-) ACAD11 (-)	Cancer cell line	Male
CVCL_SB15	HAP1 ACAD10 (-) 1	Cancer cell line	Male
CVCL_XK96	HAP1 ACAD10 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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