BCO2

Summary

BCO2 (beta-carotene oxygenase 2, HGNC:18503) is a protein-coding gene on chromosome 11q23.1, encoding Carotenoid-cleaving dioxygenase, mitochondrial (Q9BYV7). Broad specificity mitochondrial dioxygenase that mediates the asymmetric oxidative cleavage of carotenoids.

This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 83875 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 88 total
• MANE Select transcript: NM_031938

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18503
Approved symbol	BCO2
Name	beta-carotene oxygenase 2
Location	11q23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ34464, B-DIOX-II
Ensembl gene	ENSG00000197580
Ensembl biotype	protein_coding
OMIM	611740
Entrez	83875

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 32 protein_coding, 7 retained_intron, 3 nonsense_mediated_decay

ENST00000357685, ENST00000361053, ENST00000438022, ENST00000460924, ENST00000461480, ENST00000494860, ENST00000525175, ENST00000526088, ENST00000527198, ENST00000527939, ENST00000530677, ENST00000531003, ENST00000531169, ENST00000532593, ENST00000532612, ENST00000532673, ENST00000532716, ENST00000534122, ENST00000534550, ENST00000856015, ENST00000856016, ENST00000856017, ENST00000856018, ENST00000856019, ENST00000856020, ENST00000856021, ENST00000856022, ENST00000856023, ENST00000856024, ENST00000856025, ENST00000856026, ENST00000856027, ENST00000958912, ENST00000958913, ENST00000958914, ENST00000958915, ENST00000958916, ENST00000958917, ENST00000958918, ENST00000958919, ENST00000958920, ENST00000958921

RefSeq mRNA: 5 — MANE Select: NM_031938 NM_001037290, NM_001256397, NM_001256398, NM_001256400, NM_031938

CCDS: CCDS41716, CCDS58181, CCDS58182, CCDS58183, CCDS8358

Canonical transcript exons

ENST00000357685 — 12 exons

Exon	Start	End
ENSE00001865060	112217761	112218946
ENSE00002140404	112175512	112175689
ENSE00003496031	112213724	112213861
ENSE00003497402	112200613	112200773
ENSE00003517751	112202023	112202190
ENSE00003542671	112193879	112193994
ENSE00003575644	112194653	112194755
ENSE00003644131	112216220	112216330
ENSE00003711640	112179278	112179482
ENSE00003721487	112199699	112199827
ENSE00003742170	112193474	112193697
ENSE00003789952	112214762	112214944

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 97.25.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4625 / max 163.2011, expressed in 469 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116712	1.4488	354
116713	0.9368	305
116714	0.0769	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	97.25	gold quality
apex of heart	UBERON:0002098	96.50	gold quality
left ventricle myocardium	UBERON:0006566	96.24	gold quality
heart left ventricle	UBERON:0002084	96.02	gold quality
cardiac ventricle	UBERON:0002082	95.83	gold quality
right atrium auricular region	UBERON:0006631	95.80	gold quality
cardiac atrium	UBERON:0002081	95.46	gold quality
left adrenal gland cortex	UBERON:0035825	94.58	gold quality
left adrenal gland	UBERON:0001234	94.56	gold quality
right adrenal gland	UBERON:0001233	94.45	gold quality
right uterine tube	UBERON:0001302	94.15	gold quality
adrenal cortex	UBERON:0001235	93.08	gold quality
heart	UBERON:0000948	93.01	gold quality
liver	UBERON:0002107	92.47	gold quality
myocardium	UBERON:0002349	92.19	gold quality
adrenal gland	UBERON:0002369	92.14	gold quality
adrenal tissue	UBERON:0018303	91.56	gold quality
right adrenal gland cortex	UBERON:0035827	91.23	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.03	gold quality
heart right ventricle	UBERON:0002080	89.65	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.15	gold quality
oviduct epithelium	UBERON:0004804	88.70	gold quality
lower esophagus mucosa	UBERON:0035834	87.05	gold quality
hypothalamus	UBERON:0001898	86.09	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.84	gold quality
adenohypophysis	UBERON:0002196	85.72	gold quality
bronchial epithelial cell	CL:0002328	85.30	gold quality
pituitary gland	UBERON:0000007	84.98	gold quality
muscle of leg	UBERON:0001383	84.92	gold quality
gall bladder	UBERON:0002110	84.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	14.08
E-ANND-3	yes	6.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

82 targeting BCO2, 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-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6892-3P	99.68	66.40	1178

Literature-anchored findings (GeneRIF, showing 11)

• we found that the third family member, beta,beta-carotene-9’,10’-oxygenase (BCDO2), is a mitochondrial carotenoid-oxygenase with broad substrate specificity (PMID:21106934)
• The gene encoding beta-carotene-9’,10’-oxygenase, which cleaves the 9’,10’ double bond in beta-carotene into beta-apo-10’-carotenal, was cloned and expressed in Escherichia coli. (PMID:21302131)
• a stepwise cleavage by BCO2 and BCO1 with APO10ol as an intermediate could provide a mechanism to tailor asymmetric carotenoids such as beta-cryptoxanthin for vitamin A production. (PMID:24106281)
• Inactivity of human beta,beta-carotene-9’,10’-dioxygenase (BCO2) underlies retinal accumulation of the human macular carotenoid pigment. (PMID:24982131)
• Role of beta-Carotene 9,10-Dioxygenase in Macular Pigment Metabolism (PMID:26307071)
• review of molecular aspects in carotenoid metabolism and diseases (PMID:27390265)
• Study identifies BCO2 as a tumor suppressor in prostate cancer which mediates inhibition of NF-kB signaling. Its expression is decreased in human prostate cancer. (PMID:27406826)
• Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke (PMID:31250580)
• Enzymology of vertebrate carotenoid oxygenases. (PMID:32035229)
• Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases. (PMID:32061750)
• The human mitochondrial enzyme BCO2 exhibits catalytic activity toward carotenoids and apocarotenoids. (PMID:32873706)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	bco2l	ENSDARG00000027620
danio_rerio	bco2b	ENSDARG00000041715
danio_rerio	bco2a	ENSDARG00000055722
mus_musculus	Bco2	ENSMUSG00000032066
rattus_norvegicus	Rps13	ENSRNOG00000038746
caenorhabditis_elegans		WBGENE00018640

Paralogs (2): RPE65 (ENSG00000116745), BCO1 (ENSG00000135697)

Protein

Protein identifiers

Carotenoid-cleaving dioxygenase, mitochondrial — Q9BYV7 (reviewed: Q9BYV7)

Alternative names: B-diox-II, Beta,beta-carotene 9’,10’-oxygenase, Beta-carotene dioxygenase 2

All UniProt accessions (6): E9PPP9, E9PS89, Q9BYV7, H0YCL7, H0YCN8, V9GYA9

UniProt curated annotations — full annotation on UniProt →

Function. Broad specificity mitochondrial dioxygenase that mediates the asymmetric oxidative cleavage of carotenoids. Cleaves carotenes (pure hydrocarbon carotenoids) such as all-trans-beta-carotene and lycopene as well as xanthophylls (oxygenated carotenoids) such as zeaxanthin, lutein and beta-cryptoxanthin at both the 9,10 and the 9’,10’ carbon-carbon double bond. Through its function in carotenoids metabolism regulates oxidative stress and the production of important signaling molecules.

Subcellular location. Mitochondrion.

Tissue specificity. Highly expressed in retinal pigment epithelium. Also expressed in stomach, small intestine, liver, testis, kidney, adrenal gland, pancreas, heart, skeletal muscle and prostate (at protein level).

Cofactor. Binds 1 Fe(2+) ion per subunit.

Similarity. Belongs to the carotenoid oxygenase family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9BYV7-1	1	yes
Q9BYV7-2	2
Q9BYV7-4	4
Q9BYV7-5	5
Q9BYV7-6	6

RefSeq proteins (5): NP_001032367, NP_001243326, NP_001243327, NP_001243329, NP_114144* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004294	Carotenoid_Oase	Family

Pfam: PF03055

Enzyme classification (BRENDA):

• EC 1.13.11.71 — carotenoid-9’,10’-cleaving dioxygenase (BRENDA: 11 organisms, 24 substrates, 6 inhibitors, 5 Km, 4 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
BETA-CAROTENE	0.0152–0.067	2
ALL-TRANS-BETA-CAROTENE	0.037	1
ALPHA-CAROTENE	0.048	1
LUTEIN	0.105	1

Catalyzed reactions (Rhea), 11 shown:

• all-trans-beta-carotene + O2 = beta-ionone + all-trans-10’-apo-beta-carotenal (RHEA:26389)
• all-trans-zeaxanthin + 2 O2 = 4,9-dimethyldodeca-2,4,6,8,10-pentaenedial + 2 (3R)-hydroxy-beta-ionone (RHEA:26393)
• all-trans-zeaxanthin + O2 = (3R)-3-hydroxy-10’-apo-beta-carotenal + (3R)-hydroxy-beta-ionone (RHEA:68104)
• (3R)-3-hydroxy-10’-apo-beta-carotenal + O2 = 4,9-dimethyldodeca-2,4,6,8,10-pentaenedial + (3R)-hydroxy-beta-ionone (RHEA:68424)
• lutein + O2 = (3R,6R)-hydroxy-alpha-ionone + (3R)-3-hydroxy-10’-apo-beta-carotenal (RHEA:68428)
• lutein + O2 = (3R,6R)-3-hydroxy-10’-apo-alpha-carotenal + (3R)-hydroxy-beta-ionone (RHEA:68432)
• (3R,6R)-3-hydroxy-10’-apo-alpha-carotenal + O2 = (3R,6R)-hydroxy-alpha-ionone + 4,9-dimethyldodeca-2,4,6,8,10-pentaenedial (RHEA:68436)
• beta-cryptoxanthin + O2 = all-trans-10’-apo-beta-carotenal + (3R)-hydroxy-beta-ionone (RHEA:68440)
• 5-cis-lycopene + O2 = 5-cis-10’-apo-lycopenal + (3E,5E)-6,10-dimethylundeca-3,5,9-trien-2-one (RHEA:68444)
• 13-cis-lycopene + O2 = 13-cis-10’-apo-lycopenal + (3E,5E)-6,10-dimethylundeca-3,5,9-trien-2-one (RHEA:68448)
• all-trans-10’-apo-beta-carotenal + O2 = beta-ionone + 4,9-dimethyldodeca-2,4,6,8,10-pentaenedial (RHEA:68452)

UniProt features (17 total): sequence conflict 5, binding site 4, splice variant 4, sequence variant 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYV7-F1	88.41	0.78

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 (4): 226; 286; 357; 573

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-975634	Retinoid metabolism and transport
R-HSA-1430728	Metabolism
R-HSA-196854	Metabolism of vitamins and cofactors
R-HSA-2187338	Visual phototransduction
R-HSA-6806667	Metabolism of fat-soluble vitamins
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 141 (showing top): SHEPARD_BMYB_MORPHOLINO_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_RETINAL_METABOLIC_PROCESS, GOBP_RETINOIC_ACID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_ALDEHYDE_METABOLIC_PROCESS, GOBP_REGULATION_OF_MITOCHONDRIAL_MEMBRANE_POTENTIAL, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MCCABE_HOXC6_TARGETS_CANCER_UP, GOBP_LIPID_CATABOLIC_PROCESS

GO Biological Process (13): carotenoid metabolic process (GO:0016116), carotene metabolic process (GO:0016119), carotene catabolic process (GO:0016121), xanthophyll catabolic process (GO:0016124), retinoic acid metabolic process (GO:0042573), retinal metabolic process (GO:0042574), regulation of mitochondrial membrane potential (GO:0051881), lutein catabolic process (GO:0062172), lycopene catabolic process (GO:1901176), zeaxanthin catabolic process (GO:1901826), regulation of reactive oxygen species metabolic process (GO:2000377), lipid metabolic process (GO:0006629), xanthophyll metabolic process (GO:0016122)

GO Molecular Function (8): beta-carotene 15,15’-dioxygenase activity (GO:0003834), carotenoid dioxygenase activity (GO:0010436), 9,10 (9’, 10’)-carotenoid-cleaving dioxygenase activity (GO:0010437), oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702), metal ion binding (GO:0046872), beta,beta-carotene-9’,10’-cleaving oxygenase activity (GO:0102076), oxidoreductase activity (GO:0016491), dioxygenase activity (GO:0051213)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Visual phototransduction	1
Metabolism of fat-soluble vitamins	1
Metabolism	1
Sensory Perception	1
Metabolism of vitamins and cofactors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	3
retinoid metabolic process	2
xanthophyll catabolic process	2
terpenoid metabolic process	1
terpene metabolic process	1
carotene metabolic process	1
terpene catabolic process	1
carotenoid catabolic process	1
xanthophyll metabolic process	1
monocarboxylic acid metabolic process	1
hormone metabolic process	1
aldehyde metabolic process	1
olefinic compound metabolic process	1
regulation of membrane potential	1
carotene catabolic process	1
regulation of metabolic process	1
reactive oxygen species metabolic process	1
primary metabolic process	1
carotenoid metabolic process	1
carotenoid dioxygenase activity	1
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen	1
dioxygenase activity	1
cation binding	1
catalytic activity	1
oxidoreductase activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

806 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BCO2	STARD3	Q14849	644
BCO2	ISX	Q2M1V0	623
BCO2	LRAT	O95237	591
BCO2	RARS1	P54136	574
BCO2	SCARB1	Q8WTV0	569
BCO2	CYP26A1	O43174	519
BCO2	RDH13	Q8NBN7	500
BCO2	ASIP	P42127	499
BCO2	KBTBD12	Q3ZCT8	480
BCO2	APOA1	P02647	476
BCO2	RDH10	Q8IZV5	475
BCO2	STRA6	Q9BX79	466
BCO2	GSTP1	P09211	460
BCO2	CARD16	Q5EG05	455
BCO2	RETSAT	Q6NUM9	439

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ATG16L1		psi-mi:“MI:0914”(association)	0.350

BioGRID (2): BCO2 (Cross-Linking-MS (XL-MS)), DPF3 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0D1E6L2, A0A384JIP2, A1KQY3, A4XES9, A5HV13, A7UXI1, A8A7T8, A9N508, B2TY65, B4T3E3, B4TFC6, B4TSH2, B5BKK0, B5F3A8, B5FS94, B5R0Q9, B5R9D9, B5Z2J8, B7LLX4, B7MLJ7, B7MSL1, B7NGC6, B7UQK1, C3VA26, C4ZR69, O93988, P21258, P39300, P74334, P9WPR4, P9WPR5, Q0T9K1, Q2HHS4, Q3YUF5, Q4W9H1, Q52008, Q53353, Q57GK0, Q59105, Q59418

Diamond homologs: A8Y9I2, A9C3R8, A9C3R9, O70276, Q16518, Q28175, Q5RF16, Q6PBW5, Q6QT07, Q8AXN9, Q8HXG8, Q91XT5, Q91ZQ5, Q99NF1, Q9BYV7, Q9HAY6, Q9I993, Q9JJS6, Q9TVB8, Q9VFS2, Q9XT71, Q9YGX2, Q9YI25, Q93VD5, Q8VY26, Q8LIY8, C3VEQ3, C3VEQ4, K4CJJ1, O24023, O24592, O49505, O49675, O65572, Q5MBR3, Q5MBR5, Q5MBR6, Q69NX5, Q6YVJ0, Q84K96

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2312 predictions. Top by Δscore:

Variant	Effect	Δscore
11:112177595:C:G	donor_gain	1.0000
11:112179477:GGA:G	donor_gain	1.0000
11:112179478:GA:G	donor_gain	1.0000
11:112179479:A:G	donor_gain	1.0000
11:112179483:G:GG	donor_gain	1.0000
11:112200784:T:G	donor_gain	1.0000
11:112202019:GCA:G	acceptor_loss	1.0000
11:112202021:A:AG	acceptor_gain	1.0000
11:112202021:AG:A	acceptor_loss	1.0000
11:112202022:G:GA	acceptor_loss	1.0000
11:112202022:G:GG	acceptor_gain	1.0000
11:112202022:GCTCC:G	acceptor_gain	1.0000
11:112202166:G:GT	donor_gain	1.0000
11:112202167:A:T	donor_gain	1.0000
11:112202186:ATCAG:A	donor_loss	1.0000
11:112202187:TCAGG:T	donor_loss	1.0000
11:112202188:CAGGT:C	donor_loss	1.0000
11:112202189:AGGTA:A	donor_loss	1.0000
11:112202190:GGT:G	donor_loss	1.0000
11:112202191:G:GA	donor_loss	1.0000
11:112202192:T:A	donor_loss	1.0000
11:112214860:G:GG	donor_gain	1.0000
11:112216209:G:A	acceptor_gain	1.0000
11:112216329:AGGTA:A	donor_loss	1.0000
11:112216330:GGTAA:G	donor_loss	1.0000
11:112216331:GT:G	donor_loss	1.0000
11:112217757:CTAG:C	acceptor_loss	1.0000
11:112217759:A:AG	acceptor_gain	1.0000
11:112217760:G:GA	acceptor_gain	1.0000
11:112217760:G:GT	acceptor_loss	1.0000

AlphaMissense

3835 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:112199821:A:C	S287R	0.993
11:112199823:C:A	S287R	0.993
11:112199823:C:G	S287R	0.993
11:112193562:A:C	S128R	0.992
11:112193564:T:A	S128R	0.992
11:112193564:T:G	S128R	0.992
11:112200745:T:C	F333S	0.992
11:112213767:T:C	L413S	0.989
11:112193490:G:C	D104H	0.988
11:112193491:A:T	D104V	0.988
11:112199824:T:C	F288L	0.987
11:112199826:T:A	F288L	0.987
11:112199826:T:G	F288L	0.987
11:112213755:G:C	R409P	0.987
11:112193493:G:T	G105W	0.986
11:112179457:G:T	G90W	0.985
11:112193892:T:A	N177K	0.985
11:112193892:T:G	N177K	0.985
11:112202077:G:C	A361P	0.985
11:112213760:T:C	F411L	0.984
11:112213762:T:A	F411L	0.984
11:112213762:T:G	F411L	0.984
11:112193484:T:A	W102R	0.983
11:112193484:T:C	W102R	0.983
11:112193500:C:A	A107E	0.983
11:112202076:T:A	N360K	0.983
11:112202076:T:G	N360K	0.983
11:112194659:T:A	W214R	0.982
11:112194659:T:C	W214R	0.982
11:112199818:C:G	H286D	0.982

dbSNP variants (sampled 300 via entrez): RS1000009574 (11:112195445 T>A), RS1000108893 (11:112211938 A>T), RS1000600787 (11:112216805 T>C), RS1000616546 (11:112206353 G>A,C), RS1000871357 (11:112203686 C>T), RS1001069032 (11:112179472 G>C), RS1001149355 (11:112210712 T>C), RS1001286715 (11:112211501 A>G), RS1001291998 (11:112180474 C>G), RS1001342911 (11:112180077 A>T), RS1001403766 (11:112218026 A>G), RS1001485143 (11:112194594 T>C), RS1001564767 (11:112212957 A>G), RS1001696445 (11:112198028 A>G), RS1001751360 (11:112204617 C>T)

Disease associations

OMIM: gene MIM:611740 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000590_1	Interleukin-18 levels	4.000000e-09
GCST000590_2	Interleukin-18 levels	1.000000e-08
GCST001537_1	Immune reponse to smallpox (secreted IL-12p40)	1.000000e-08
GCST002255_1	Inflammatory biomarkers	2.000000e-32
GCST009736_1	Interleukin-18 levels	2.000000e-32

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004581	interleukin 18 measurement
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0004812	interleukin-1 beta measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	2
sotorasib	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	decreases expression	1
abrine	decreases expression	1
bisphenol S	increases methylation	1
jinfukang	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Succimer	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases expression	1
Copper Sulfate	increases expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression	1
Magnetite Nanoparticles	decreases expression, affects cotreatment	1

Clinical trials (associated diseases)

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