ACSBG2

Summary

ACSBG2 (acyl-CoA synthetase bubblegum family member 2, HGNC:24174) is a protein-coding gene on chromosome 19p13.3, encoding Long-chain-fatty-acid–CoA ligase ACSBG2 (Q5FVE4). Catalyzes the conversion of fatty acids such as long chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation.

Enables arachidonate-CoA ligase activity and fatty acyl-CoA hydrolase activity. Acts upstream of or within fatty acid metabolic process. Located in cytosol and mitochondrion.

Source: NCBI Gene 81616 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 119 total
• MANE Select transcript: NM_030924

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24174
Approved symbol	ACSBG2
Name	acyl-CoA synthetase bubblegum family member 2
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	BGR, PRTD-NY3, DKFZp434K1635
Ensembl gene	ENSG00000130377
Ensembl biotype	protein_coding
OMIM	614363
Entrez	81616

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000585526, ENST00000586696, ENST00000587227, ENST00000587617, ENST00000588304, ENST00000588485, ENST00000588722, ENST00000589401, ENST00000590132, ENST00000591403, ENST00000591738, ENST00000591741, ENST00000592677, ENST00000681479, ENST00000681525

RefSeq mRNA: 6 — MANE Select: NM_030924 NM_001289177, NM_001289178, NM_001289179, NM_001289180, NM_001321384, NM_030924

CCDS: CCDS12159, CCDS82282, CCDS92498

Canonical transcript exons

ENST00000588485 — 15 exons

Exon	Start	End
ENSE00000857480	6156431	6156551
ENSE00002966665	6192668	6193091
ENSE00003475713	6183039	6183272
ENSE00003505299	6177229	6177396
ENSE00003522558	6147446	6147675
ENSE00003544365	6151707	6151795
ENSE00003553648	6165866	6166015
ENSE00003559374	6187283	6187422
ENSE00003583087	6185436	6185653
ENSE00003612317	6161215	6161295
ENSE00003633153	6190584	6190692
ENSE00003645152	6187599	6187845
ENSE00003657570	6182751	6182932
ENSE00003688185	6141513	6141610
ENSE00003910638	6135667	6135909

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 99.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2341 / max 207.9502, expressed in 4 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173458	0.2299	4
173459	0.0042	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.70	gold quality
male germ cell	CL:0000015	98.37	gold quality
left testis	UBERON:0004533	97.98	gold quality
right testis	UBERON:0004534	97.75	gold quality
testis	UBERON:0000473	95.01	gold quality
adult organism	UBERON:0007023	91.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.72	gold quality
pancreatic ductal cell	CL:0002079	63.91	silver quality
tibialis anterior	UBERON:0001385	62.52	silver quality
cerebellar hemisphere	UBERON:0002245	60.66	gold quality
right hemisphere of cerebellum	UBERON:0014890	60.63	gold quality
cerebellar cortex	UBERON:0002129	60.60	gold quality
right coronary artery	UBERON:0001625	60.10	gold quality
lower esophagus muscularis layer	UBERON:0035833	59.54	gold quality
CA1 field of hippocampus	UBERON:0003881	59.44	gold quality
lower esophagus	UBERON:0013473	59.43	gold quality
ileal mucosa	UBERON:0000331	59.25	silver quality
cerebellum	UBERON:0002037	59.05	gold quality
left uterine tube	UBERON:0001303	59.00	gold quality
adult mammalian kidney	UBERON:0000082	57.84	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	56.65	gold quality
cauda epididymis	UBERON:0004360	56.07	gold quality
cerebellar vermis	UBERON:0004720	55.98	gold quality
vena cava	UBERON:0004087	55.95	gold quality
endothelial cell	CL:0000115	55.33	gold quality
kidney	UBERON:0002113	55.29	gold quality
deltoid	UBERON:0001476	54.89	gold quality
ganglionic eminence	UBERON:0004023	54.87	gold quality
metanephros cortex	UBERON:0010533	54.47	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	30.64
E-ANND-3	yes	4.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting ACSBG2, 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-4692	100.00	67.32	2066
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-6815-3P	99.13	68.98	1530

Literature-anchored findings (GeneRIF, showing 2)

• A new gene exhibiting 50-fold difference in expression level between adult and fetal human testes was cloned and named the BGR-like gene. It was exclusively expressed in testes and was a testes-specific isoform of the BGR gene. (PMID:15685348)
• The limited tissue expression pattern and limited substrate specificity rule out a likely role for this enzyme in X-linked adrenoleukodystrophy pathology. (PMID:16371355)

Cross-species orthologs

27 orthologs

Organism	Symbol	Gene ID
danio_rerio	acsbg2	ENSDARG00000004094
mus_musculus	Acsbg2	ENSMUSG00000024207
rattus_norvegicus	Acsbg2	ENSRNOG00000045947
drosophila_melanogaster	bgm	FBGN0027348
drosophila_melanogaster	pdgy	FBGN0027601
drosophila_melanogaster	CG8834	FBGN0033733
drosophila_melanogaster	CG17999	FBGN0034552
drosophila_melanogaster	CG9993	FBGN0034553
drosophila_melanogaster	Fatp3	FBGN0034999
drosophila_melanogaster	CG4563	FBGN0035006
drosophila_melanogaster	CG5568	FBGN0035641
drosophila_melanogaster	CG18586	FBGN0035642
drosophila_melanogaster	CG4830	FBGN0037996
drosophila_melanogaster	Acsx1L	FBGN0038730
drosophila_melanogaster	Acsx1R	FBGN0038731
drosophila_melanogaster	Acsx2	FBGN0038732
drosophila_melanogaster	Acsx3	FBGN0038733
drosophila_melanogaster	Acsx4	FBGN0038734
drosophila_melanogaster	Fatp2	FBGN0265187
drosophila_melanogaster	Fatp1	FBGN0267828
drosophila_melanogaster	hll	FBGN0286723
caenorhabditis_elegans		WBGENE00007082
caenorhabditis_elegans		WBGENE00008669
caenorhabditis_elegans		WBGENE00009218
caenorhabditis_elegans		WBGENE00011173
caenorhabditis_elegans		WBGENE00019920
caenorhabditis_elegans		WBGENE00022849

Paralogs (12): ACSL4 (ENSG00000068366), SLC27A5 (ENSG00000083807), ACSBG1 (ENSG00000103740), SLC27A6 (ENSG00000113396), ACSL3 (ENSG00000123983), SLC27A1 (ENSG00000130304), SLC27A2 (ENSG00000140284), SLC27A3 (ENSG00000143554), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), SLC27A4 (ENSG00000167114), ACSL5 (ENSG00000197142)

Protein

Protein identifiers

Long-chain-fatty-acid–CoA ligase ACSBG2 — Q5FVE4 (reviewed: Q5FVE4)

Alternative names: Acyl-CoA synthetase bubblegum family member 2, Arachidonate–CoA ligase ACSBG2, Bubblegum-related protein, PRTD-NY3

All UniProt accessions (9): Q5FVE4, A0A140VJD4, A0A7P0Z4L8, K7EKE4, K7EL11, K7EMB4, K7ERT0, K7ESC8, K7ESF1

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the conversion of fatty acids such as long chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis.

Subcellular location. Cytoplasm. Membrane.

Tissue specificity. Testis-specific.

Similarity. Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5FVE4-1	1	yes
Q5FVE4-2	2
Q5FVE4-3	3
Q5FVE4-4	4

RefSeq proteins (6): NP_001276106, NP_001276107, NP_001276108, NP_001276109, NP_001308313, NP_112186* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000873	AMP-dep_synth/lig_dom	Domain
IPR020845	AMP-binding_CS	Conserved_site
IPR042099	ANL_N_sf	Homologous_superfamily

Pfam: PF00501

Enzyme classification (BRENDA):

• EC 6.2.1.3 — long-chain-fatty-acid-CoA ligase (BRENDA: 48 organisms, 205 substrates, 100 inhibitors, 159 Km, 11 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
ATP	0.025–12.21	28
COA	0.0005–4.7	21
PALMITATE	0.0002–6	19
OLEATE	0.0014–3	9
ARACHIDONATE	0.0065–9.7	6
STEARATE	0.0002–0.12	6
DECANOATE	0.004–0.0083	4
LAURATE	0.0005–0.002	4
LINOLEATE	0.0022–0.041	4
MYRISTATE	0.0002–0.0024	4
OCTANOATE	0.0007–0.0408	4
LAURIC ACID	0.0017–0.0163	3
LINOLENATE	0.0016–0.0073	2
OCTADECANOATE	0.061–0.072	2
PALMITOLEATE	0.0015–0.002	2

Catalyzed reactions (Rhea), 6 shown:

• a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:15421)
• (5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate (RHEA:19713)
• hexadecanoate + ATP + CoA = hexadecanoyl-CoA + AMP + diphosphate (RHEA:30751)
• (9Z)-octadecenoate + ATP + CoA = (9Z)-octadecenoyl-CoA + AMP + diphosphate (RHEA:33607)
• tetracosanoate + ATP + CoA = tetracosanoyl-CoA + AMP + diphosphate (RHEA:33639)
• (9Z,12Z)-octadecadienoate + ATP + CoA = (9Z,12Z)-octadecadienoyl-CoA + AMP + diphosphate (RHEA:33651)

UniProt features (20 total): sequence variant 8, binding site 4, sequence conflict 3, splice variant 3, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5FVE4-F1	90.67	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 (4): 230–238; 418–423; 496; 624

Mutagenesis-validated functional residues (1):

Position	Phenotype
511	results in a shift of the ph optimum to a more acidic ph without affecting substrate specificity.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-75876	Synthesis of very long-chain fatty acyl-CoAs
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-75105	Fatty acyl-CoA biosynthesis
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 97 (showing top): REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS

GO Biological Process (7): fatty acid metabolic process (GO:0006631), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), long-chain fatty-acyl-CoA biosynthetic process (GO:0035338), long-chain fatty acid biosynthetic process (GO:0042759), long-chain fatty acid metabolic process (GO:0001676), lipid metabolic process (GO:0006629)

GO Molecular Function (7): long-chain fatty acid-CoA ligase activity (GO:0004467), ATP binding (GO:0005524), very long-chain fatty acid-CoA ligase activity (GO:0031957), fatty acyl-CoA hydrolase activity (GO:0047617), arachidonate-CoA ligase activity (GO:0047676), nucleotide binding (GO:0000166), ligase activity (GO:0016874)

GO Cellular Component (4): cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Fatty acyl-CoA biosynthesis	1
Metabolism	1
Fatty acid metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
long-chain fatty acid metabolic process	2
fatty acid-CoA ligase activity	2
cytoplasm	2
lipid metabolic process	1
monocarboxylic acid metabolic process	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
long-chain fatty-acyl-CoA metabolic process	1
fatty-acyl-CoA biosynthetic process	1
fatty acid biosynthetic process	1
fatty acid metabolic process	1
primary metabolic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
acyl-CoA hydrolase activity	1
long-chain fatty acid-CoA ligase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1754 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACSBG2	AASDH	Q4L235	547
ACSBG2	ACADM	P11310	533
ACSBG2	WBP2NL	Q6ICG8	525
ACSBG2	GALNTL5	Q7Z4T8	492
ACSBG2	FAM237A	A0A1B0GTK4	473
ACSBG2	AGPAT2	O15120	460
ACSBG2	ACADVL	P49748	458
ACSBG2	DNAI3	Q8IWG1	451
ACSBG2	LVRN	Q6Q4G3	438
ACSBG2	UXS1	Q8NBZ7	433
ACSBG2	ELOVL6	Q9H5J4	418
ACSBG2	FABP3	P05413	415
ACSBG2	ACAA1	P09110	411
ACSBG2	NME8	Q8N427	409
ACSBG2	OAZ3	Q9UMX2	407

IntAct

5 interactions, top by confidence:

A	B	Type	Score
ACSBG2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
KIF2B	BACH1	psi-mi:“MI:0914”(association)	0.530
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): ZZEF1 (Affinity Capture-MS), CMSS1 (Affinity Capture-MS), ACSBG2 (Affinity Capture-MS), ACSBG2 (Two-hybrid), ACSBG2 (Affinity Capture-MS), ACSBG2 (Affinity Capture-RNA), CMSS1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ACSBG2 (Affinity Capture-MS), ACSBG2 (Affinity Capture-RNA), ACSBG2 (Affinity Capture-MS)

ESM2 similar proteins: A1L1K7, A7DZP8, B2KWI3, F4HUK6, I3PB36, M4IRL4, M4IS88, M4IS92, M4ISH1, M4ISH2, O22898, O35547, O60488, O80658, O95573, P30624, P35571, P39002, P39518, P47912, Q0P4F7, Q2KHW5, Q2XU92, Q4R4P9, Q4WR83, Q5FVE4, Q5R668, Q5ZKR7, Q63151, Q7ZYC4, Q8VCW8, Q8W471, Q924N5, Q96GR2, Q99PU5, Q9C7W4, Q9C8D4, Q9C9G2, Q9CAP8, Q9CZW4

Diamond homologs: A0A0C1BUW8, A0A0C1E3B7, A0A0S1RUN4, A0A0S2E7V8, A0A0S2E7W3, A0A0S2E7W7, A0A0S2E7X0, A0A0S2E7Z1, A0A179HJB8, A0A336U965, A0A6F9DYX9, A7XRY0, B2HGV4, B3FWS8, B7STY1, C5D6U5, F8P1W3, I3PB36, I6NXV7, M4IRL4, M4IS88, M4IS92, O31826, P12276, P27743, P39518, P44446, P49327, P9WES4, Q0CBN5, Q0CRX1, Q0CT94, Q0CU19, Q0CWD0, Q0D034, Q0DV32, Q0K844, Q1MWN4, Q5B7T4, Q5FVE4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2555 predictions. Top by Δscore:

Variant	Effect	Δscore
19:6161296:G:GG	donor_gain	1.0000
19:6165864:A:AG	acceptor_gain	1.0000
19:6165864:AGTG:A	acceptor_gain	1.0000
19:6165864:AGTGG:A	acceptor_gain	1.0000
19:6165865:G:GG	acceptor_gain	1.0000
19:6165865:GT:G	acceptor_gain	1.0000
19:6165865:GTGG:G	acceptor_gain	1.0000
19:6165865:GTGGG:G	acceptor_gain	1.0000
19:6165973:G:T	donor_gain	1.0000
19:6165981:GCA:G	donor_gain	1.0000
19:6165982:C:T	donor_gain	1.0000
19:6165992:G:GT	donor_gain	1.0000
19:6165992:G:T	donor_gain	1.0000
19:6166016:G:GG	donor_gain	1.0000
19:6183264:GCTTC:G	donor_gain	1.0000
19:6187841:GCTAG:G	donor_gain	1.0000
19:6192666:A:AG	acceptor_gain	1.0000
19:6192667:G:GG	acceptor_gain	1.0000
19:6192667:GC:G	acceptor_gain	1.0000
19:6135906:ACAG:A	donor_gain	0.9900
19:6135916:GTG:G	donor_gain	0.9900
19:6135918:G:GA	donor_gain	0.9900
19:6135931:GGCA:G	donor_gain	0.9900
19:6141511:A:AG	acceptor_gain	0.9900
19:6141512:G:GG	acceptor_gain	0.9900
19:6141512:GTGCT:G	acceptor_gain	0.9900
19:6141586:G:GT	donor_gain	0.9900
19:6141607:GAAG:G	donor_gain	0.9900
19:6147444:A:AG	acceptor_gain	0.9900
19:6147445:G:GG	acceptor_gain	0.9900

AlphaMissense

3227 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:6166004:A:C	S243R	0.982
19:6166006:T:A	S243R	0.982
19:6166006:T:G	S243R	0.982
19:6177295:A:C	S269R	0.980
19:6177297:C:A	S269R	0.980
19:6177297:C:G	S269R	0.980
19:6185519:G:T	R469M	0.969
19:6185519:G:C	R469T	0.967
19:6185520:G:C	R469S	0.962
19:6185520:G:T	R469S	0.962
19:6185516:G:T	G468V	0.957
19:6177340:T:A	W284R	0.954
19:6177340:T:C	W284R	0.954
19:6185515:G:C	G468R	0.952
19:6177235:T:A	W249R	0.949
19:6177235:T:C	W249R	0.949
19:6183223:A:C	S425R	0.932
19:6183225:C:A	S425R	0.932
19:6183225:C:G	S425R	0.932
19:6166015:C:A	N246K	0.931
19:6166015:C:G	N246K	0.931
19:6166010:G:C	D245H	0.929
19:6182785:C:A	P314H	0.929
19:6187800:T:A	W628R	0.928
19:6187800:T:C	W628R	0.928
19:6185441:G:T	G443V	0.926
19:6182814:T:A	W324R	0.925
19:6182814:T:C	W324R	0.925
19:6183271:A:C	S441R	0.923
19:6185436:C:A	S441R	0.923

dbSNP variants (sampled 300 via entrez): RS1000060202 (19:6179983 A>C,G,T), RS1000216083 (19:6172658 A>G), RS1000240989 (19:6141916 A>G), RS1000294206 (19:6169490 G>T), RS1000318553 (19:6142482 G>A), RS1000325682 (19:6136601 G>A), RS1000339005 (19:6176196 T>C), RS1000379065 (19:6178828 G>A), RS1000436964 (19:6185299 C>G,T), RS1000480910 (19:6140504 C>A), RS1000512048 (19:6151769 C>T), RS1000565295 (19:6158839 T>C), RS1000671263 (19:6174555 T>A), RS1000727275 (19:6182485 G>A), RS1000751279 (19:6136267 AT>A)

Disease associations

OMIM: gene MIM:614363 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010151_31	Carotid intima media thickness x smoking interaction	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006527	smoking status measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, decreases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
bisphenol S	increases methylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Lipopolysaccharides	decreases expression, decreases reaction	1
Methapyrilene	decreases methylation	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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