ABCA6

Summary

ABCA6 (ATP binding cassette subfamily A member 6, HGNC:36) is a protein-coding gene on chromosome 17q24.2-q24.3, encoding ATP-binding cassette sub-family A member 6 (Q8N139). Probable transporter which may play a role in macrophage lipid transport and homeostasis.

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis.

Source: NCBI Gene 23460 — RefSeq curated summary.

At a glance

• GWAS associations: 47
• Clinical variants (ClinVar): 256 total — 1 pathogenic
• MANE Select transcript: NM_080284

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:36
Approved symbol	ABCA6
Name	ATP binding cassette subfamily A member 6
Location	17q24.2-q24.3
Locus type	gene with protein product
Status	Approved
Aliases	EST155051
Ensembl gene	ENSG00000154262
Ensembl biotype	protein_coding
OMIM	612504
Entrez	23460

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000284425, ENST00000446604, ENST00000589482, ENST00000589803, ENST00000590311, ENST00000590645, ENST00000592493, ENST00000886834, ENST00000886835, ENST00000886836, ENST00000886837, ENST00000886838, ENST00000886839, ENST00000886840, ENST00000886841, ENST00000886842, ENST00000886843, ENST00000886844

RefSeq mRNA: 1 — MANE Select: NM_080284 NM_080284

CCDS: CCDS11683

Canonical transcript exons

ENST00000284425 — 39 exons

Exon	Start	End
ENSE00001104933	69136092	69136250
ENSE00001104948	69137296	69137500
ENSE00001104975	69123239	69123407
ENSE00001104999	69128619	69128804
ENSE00001105004	69124888	69125035
ENSE00001105007	69133641	69133867
ENSE00001105009	69134639	69134742
ENSE00001148863	69140608	69140748
ENSE00001187403	69141745	69141895
ENSE00002209282	69078702	69079074
ENSE00002267967	69100797	69100934
ENSE00002270224	69102835	69102968
ENSE00002321969	69105462	69105628
ENSE00002444236	69117898	69117956
ENSE00002503998	69129610	69129751
ENSE00003460624	69114762	69114937
ENSE00003461731	69107696	69107812
ENSE00003461881	69084432	69084507
ENSE00003468597	69091143	69091262
ENSE00003491191	69083212	69083331
ENSE00003511911	69086618	69086735
ENSE00003537371	69112183	69112273
ENSE00003545539	69088167	69088258
ENSE00003555465	69085625	69085716
ENSE00003592732	69115376	69115486
ENSE00003595372	69097920	69098027
ENSE00003621292	69113618	69113737
ENSE00003622654	69113222	69113360
ENSE00003628884	69085028	69085182
ENSE00003652298	69079210	69079265
ENSE00003653379	69081066	69081145
ENSE00003656256	69106028	69106211
ENSE00003662870	69089465	69089542
ENSE00003670969	69082873	69083013
ENSE00003675600	69096628	69096801
ENSE00003677830	69096240	69096353
ENSE00003682478	69087353	69087473
ENSE00003687889	69084261	69084355
ENSE00003692778	69110801	69110940

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 96.94.

FANTOM5 (CAGE): breadth broad, TPM avg 3.6611 / max 325.6449, expressed in 558 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167781	2.7177	500
167782	0.3782	184
167780	0.2374	106
167774	0.1388	26
167775	0.0665	21
167779	0.0568	26
167773	0.0360	6
167783	0.0297	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.94	gold quality
tibial nerve	UBERON:0001323	96.13	gold quality
mucosa of stomach	UBERON:0001199	96.10	gold quality
sural nerve	UBERON:0015488	95.20	gold quality
right lung	UBERON:0002167	95.17	gold quality
left ovary	UBERON:0002119	94.88	gold quality
right lobe of liver	UBERON:0001114	94.78	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.06	gold quality
right ovary	UBERON:0002118	93.23	gold quality
omental fat pad	UBERON:0010414	92.95	gold quality
peritoneum	UBERON:0002358	92.81	gold quality
apex of heart	UBERON:0002098	92.77	gold quality
right atrium auricular region	UBERON:0006631	92.77	gold quality
liver	UBERON:0002107	92.48	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.28	gold quality
cardiac atrium	UBERON:0002081	91.52	gold quality
adipose tissue	UBERON:0001013	90.37	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.27	gold quality
right coronary artery	UBERON:0001625	89.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.63	gold quality
lower esophagus	UBERON:0013473	89.59	gold quality
left coronary artery	UBERON:0001626	89.35	gold quality
connective tissue	UBERON:0002384	89.30	gold quality
tendon	UBERON:0000043	88.68	gold quality
minor salivary gland	UBERON:0001830	88.56	gold quality
coronary artery	UBERON:0001621	88.17	gold quality
endocervix	UBERON:0000458	88.12	gold quality
colonic epithelium	UBERON:0000397	87.98	gold quality
heart	UBERON:0000948	87.68	gold quality
heart left ventricle	UBERON:0002084	87.60	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	3292.26
E-MTAB-11268	yes	1444.49
E-GEOD-180759	yes	982.61
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting ABCA6, 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-3924	100.00	72.09	2394
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-1262	98.17	66.52	757
HSA-MIR-4701-3P	98.17	66.25	788
HSA-MIR-6736-5P	98.17	66.43	760
HSA-MIR-3144-3P	98.15	67.34	677
HSA-MIR-6802-3P	97.29	65.42	613
HSA-MIR-6888-5P	95.89	63.78	831
HSA-MIR-4683	95.29	65.98	631

Literature-anchored findings (GeneRIF, showing 6)

• These data provide evidence for an essential role of FoxO proteins in the transcription of ABCA6 in human vascular endothelial cells. (PMID:24028821)
• Results suggest a possible role for multidrug resistance genes ABCA10 and ABCA6 in follicular lymphoma survival and add to the evidence that genetic variation in CD46 and IL8 may have prognostic implications follicular lymphoma. (PMID:25294155)
• A rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), found in a Dutch population, is predicted to be deleterious with respect to blood cholesterol levels. (PMID:25751400)
• The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories. (PMID:32877505)
• Hypercholesterolemia risk associated Abca6 does not regulate lipoprotein metabolism in mice or hamster. (PMID:34274505)
• ABCA6 affects the malignancy of Ewing sarcoma cells via cholesterol-guided inhibition of the IGF1R/AKT/MDM2 axis. (PMID:36149602)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	abca5	ENSDARG00000074041
mus_musculus	Abca6	ENSMUSG00000044749
rattus_norvegicus	Abca6	ENSRNOG00000046890
drosophila_melanogaster	Eato	FBGN0028539
drosophila_melanogaster	CG1494	FBGN0031169
drosophila_melanogaster	Abca3	FBGN0031170
drosophila_melanogaster	CG1801	FBGN0031171
drosophila_melanogaster	CG8908	FBGN0034493
drosophila_melanogaster	CG6052	FBGN0036747
drosophila_melanogaster	CG31213	FBGN0051213
drosophila_melanogaster	ldd	FBGN0083956
drosophila_melanogaster	CG43672	FBGN0263747
caenorhabditis_elegans		WBGENE00000019
caenorhabditis_elegans	abt-2	WBGENE00000020
caenorhabditis_elegans		WBGENE00000022
caenorhabditis_elegans	abt-5	WBGENE00000023

Paralogs (11): ABCA7 (ENSG00000064687), ABCA2 (ENSG00000107331), ABCA8 (ENSG00000141338), ABCA12 (ENSG00000144452), ABCA9 (ENSG00000154258), ABCA10 (ENSG00000154263), ABCA5 (ENSG00000154265), ABCA1 (ENSG00000165029), ABCA3 (ENSG00000167972), ABCA13 (ENSG00000179869), ABCA4 (ENSG00000198691)

Protein

Protein identifiers

ATP-binding cassette sub-family A member 6 — Q8N139 (reviewed: Q8N139)

All UniProt accessions (1): Q8N139

UniProt curated annotations — full annotation on UniProt →

Function. Probable transporter which may play a role in macrophage lipid transport and homeostasis.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Widely expressed with higher expression in liver.

Induction. Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages.

Similarity. Belongs to the ABC transporter superfamily. ABCA family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N139-1	1	yes
Q8N139-2	2, ABCA6delta-139
Q8N139-3	3

RefSeq proteins (1): NP_525023* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR013525	ABC2_TM	Domain
IPR026082	ABCA	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR056264	R2_ABCA1-4-like	Domain

Pfam: PF00005, PF12698, PF23321

UniProt features (35 total): transmembrane region 14, sequence variant 5, splice variant 4, sequence conflict 4, glycosylation site 3, domain 2, binding site 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N139-F1	77.38	0.13

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 (2): 514–521; 1320–1327

Glycosylation sites (3): 84, 109, 940

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-1369062	ABC transporters in lipid homeostasis
R-HSA-9615017	FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
R-HSA-212436	Generic Transcription Pathway
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9614085	FOXO-mediated transcription

MSigDB gene sets: 111 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, BROWNE_HCMV_INFECTION_8HR_UP, CEBPB_01, KEGG_ABC_TRANSPORTERS, BROWNE_HCMV_INFECTION_48HR_DN, CAIRO_HEPATOBLASTOMA_CLASSES_DN, HFH4_01, CORRE_MULTIPLE_MYELOMA_UP, BERTUCCI_INVASIVE_CARCINOMA_DUCTAL_VS_LOBULAR_DN, GOBP_LIPID_LOCALIZATION, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_TRANSMEMBRANE_TRANSPORT, CHIANG_LIVER_CANCER_SUBCLASS_PROLIFERATION_DN, PAX2_02, GOMF_LIPID_TRANSPORTER_ACTIVITY

GO Biological Process (2): lipid transport (GO:0006869), transmembrane transport (GO:0055085)

GO Molecular Function (6): lipid carrier activity (GO:0005319), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled transmembrane transporter activity (GO:0042626), ABC-type transporter activity (GO:0140359), nucleotide binding (GO:0000166)

GO Cellular Component (5): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), plasma membrane (GO:0005886), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
ABC-family protein mediated transport	1
FOXO-mediated transcription	1
RNA Polymerase II Transcription	1
Transport of small molecules	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
ATP-dependent activity	2
cellular anatomical structure	2
lipid localization	1
cellular process	1
molecular carrier activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
primary active transmembrane transporter activity	1
ATP hydrolysis activity	1
ATPase-coupled transmembrane transporter activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
membrane	1
cell periphery	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1004 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCA6	MAP2K6	P52564	594
ABCA6	SLC22A8	Q8TCC7	511
ABCA6	ABCF3	Q9NUQ8	462
ABCA6	ABCC3	O15438	444
ABCA6	APOD	P05090	416
ABCA6	ABCD4	O14678	407
ABCA6	ABCA12	Q86UK0	395
ABCA6	SLC27A6	Q9Y2P4	394
ABCA6	ABCA8	O94911	389
ABCA6	MSLNL	Q96KJ4	387
ABCA6	SLCO1B1	Q9Y6L6	376
ABCA6	MRAS	O14807	362
ABCA6	SARM1	Q6SZW1	353
ABCA6	ABCF1	Q8NE71	346
ABCA6	ABCB1	P08183	343

IntAct

3 interactions, top by confidence:

A	B	Type	Score
APOA1	CNMD	psi-mi:“MI:0914”(association)	0.350
ABCA6	STX6	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): ABCA10 (Affinity Capture-MS), DNAJC30 (Affinity Capture-MS), ABCA8 (Affinity Capture-MS), STX6 (Affinity Capture-MS), FADS1 (Affinity Capture-MS), ANKLE2 (Affinity Capture-MS), CISD3 (Affinity Capture-MS), ABCA2 (Affinity Capture-MS), ABCA6 (Affinity Capture-MS), ABCA6 (Proximity Label-MS), ABCA6 (Proximity Label-MS), ABCA6 (Proximity Label-MS), ABCA6 (Proximity Label-MS), ABCA6 (Proximity Label-MS), ABCA6 (Proximity Label-MS)

ESM2 similar proteins: A0A0G2K1Q8, B2RX12, E9PU17, E9PX95, F1MWM0, O00329, O15438, O35600, O75899, O88563, O88871, O94911, O95477, P41233, P55205, P58428, P78363, Q09427, Q09428, Q09429, Q2NKY8, Q5BJS0, Q5R607, Q5ZI74, Q6TL19, Q7L2E3, Q7TNJ2, Q80T41, Q84M24, Q8CF82, Q8IUA7, Q8K440, Q8K441, Q8K442, Q8K448, Q8K449, Q8LPK0, Q8N139, Q8NCL4, Q8R420

Diamond homologs: A0A059J0G5, A0A0M3R8G1, A0A1L9WQK0, A0A1U8QKX8, A0A1U8QT10, A0A1V0QSE4, A0A1V1GB10, A0A1Y0BRF0, A0A2H1A768, A0A2U8U2K9, A0A481WQK1, A0A4P8GG95, A0A8K1AW53, A1C8C8, A1CFM0, A9YWR6, B6HV31, B6RAL1, B8NDS8, B9G5Y5, D3GE74, D4AYW0, E9RBG1, F2PLH2, F2RSQ6, F2SG60, F2SHL1, G3JF11, I1RL06, J9VME1, J9VPA2, M2UCE5, O42690, O65934, O74208, O74676, P32568, P33302, P40550, P41820

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	207
Likely benign	25
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	Pathogenic

SpliceAI

5892 predictions. Top by Δscore:

Variant	Effect	Δscore
17:69079208:A:AC	donor_gain	1.0000
17:69079209:C:CA	donor_loss	1.0000
17:69079209:C:CC	donor_gain	1.0000
17:69079209:CCTT:C	donor_gain	1.0000
17:69079261:CTTCA:C	acceptor_gain	1.0000
17:69079262:TTCA:T	acceptor_gain	1.0000
17:69079263:TCA:T	acceptor_gain	1.0000
17:69079264:CA:C	acceptor_gain	1.0000
17:69079264:CAC:C	acceptor_gain	1.0000
17:69079265:AC:A	acceptor_loss	1.0000
17:69079266:C:CC	acceptor_gain	1.0000
17:69082867:TCTCA:T	donor_loss	1.0000
17:69082868:CTCA:C	donor_loss	1.0000
17:69082869:TCAC:T	donor_loss	1.0000
17:69082870:CAC:C	donor_loss	1.0000
17:69082871:A:T	donor_loss	1.0000
17:69082872:CCTT:C	donor_loss	1.0000
17:69082876:T:A	donor_gain	1.0000
17:69083011:CAT:C	acceptor_gain	1.0000
17:69083012:ATC:A	acceptor_loss	1.0000
17:69083013:TCTAT:T	acceptor_loss	1.0000
17:69083014:C:CC	acceptor_gain	1.0000
17:69083014:CT:C	acceptor_loss	1.0000
17:69083015:T:C	acceptor_loss	1.0000
17:69083214:AAG:A	donor_gain	1.0000
17:69084353:CAA:C	acceptor_gain	1.0000
17:69084356:C:CC	acceptor_gain	1.0000
17:69084427:CGTA:C	donor_loss	1.0000
17:69084428:GTAC:G	donor_loss	1.0000
17:69084429:TACC:T	donor_loss	1.0000

AlphaMissense

10715 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:69128649:G:C	S363R	0.986
17:69128649:G:T	S363R	0.986
17:69128651:T:G	S363R	0.986
17:69102861:C:G	A950P	0.981
17:69100863:G:C	S982R	0.977
17:69100863:G:T	S982R	0.977
17:69100865:T:G	S982R	0.977
17:69100890:A:C	C973W	0.976
17:69100911:A:C	C966W	0.966
17:69100913:A:G	C966R	0.964
17:69113652:A:G	L623P	0.963
17:69112186:A:G	L710P	0.961
17:69113256:A:C	S669R	0.959
17:69113256:A:T	S669R	0.959
17:69113258:T:G	S669R	0.959
17:69084338:G:C	S1426R	0.958
17:69084338:G:T	S1426R	0.958
17:69084340:T:G	S1426R	0.958
17:69100892:A:G	C973R	0.958
17:69086626:A:T	V1310D	0.957
17:69083242:C:G	R1482P	0.956
17:69114814:A:G	L577P	0.956
17:69137362:A:C	Y79D	0.955
17:69134650:C:G	A185P	0.954
17:69102851:A:T	V953D	0.953
17:69100923:A:C	F962L	0.952
17:69100923:A:T	F962L	0.952
17:69100925:A:G	F962L	0.952
17:69136165:A:C	F129L	0.952
17:69136165:A:T	F129L	0.952

dbSNP variants (sampled 300 via entrez): RS1000121805 (17:69062869 T>C), RS1000199865 (17:69140844 T>A), RS1000283661 (17:69101723 A>C), RS1000311054 (17:69074356 C>T), RS1000312824 (17:69087779 T>C), RS1000344004 (17:69073969 T>A), RS1000377231 (17:69081910 G>GT), RS1000382172 (17:69119956 T>C), RS1000387041 (17:69133320 A>G), RS1000406988 (17:69094924 C>G), RS1000437807 (17:69094752 G>C), RS1000494072 (17:69109131 T>C), RS1000494590 (17:69100273 C>T), RS1000534062 (17:69142563 A>C), RS1000570636 (17:69067660 AGAAAGAAG>A)

Disease associations

OMIM: gene MIM:612504 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

47 associations (top):

Study	Trait	p-value
GCST002896_42	Cholesterol, total	2.000000e-13
GCST002898_37	LDL cholesterol	2.000000e-18
GCST003031_2	MGMT methylation in smokers	2.000000e-07
GCST004602_298	Mean corpuscular volume	3.000000e-12
GCST004604_34	Hematocrit	2.000000e-13
GCST004615_116	Hemoglobin concentration	2.000000e-16
GCST004630_220	Mean corpuscular hemoglobin	2.000000e-13
GCST005580_121	Intraocular pressure	8.000000e-21
GCST006612_74	LDL cholesterol	4.000000e-52
GCST006614_59	Total cholesterol levels	2.000000e-33
GCST007931_27	Medication use (HMG CoA reductase inhibitors)	6.000000e-16
GCST007931_54	Medication use (HMG CoA reductase inhibitors)	2.000000e-09
GCST008077_21	LDL cholesterol levels	2.000000e-07
GCST008077_85	LDL cholesterol levels	2.000000e-06
GCST008078_149	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	9.000000e-33
GCST008078_58	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	6.000000e-32
GCST008079_4	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	3.000000e-33
GCST008079_46	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	5.000000e-32
GCST008086_24	LDL cholesterol levels in current drinkers	6.000000e-14
GCST008086_36	LDL cholesterol levels in current drinkers	1.000000e-15
GCST008277_5	Corneal hysteresis	7.000000e-11
GCST010083_148	Hemoglobin levels	6.000000e-36
GCST010204_7	Low density lipoprotein cholesterol levels	2.000000e-98
GCST010241_41	Apolipoprotein A1 levels	2.000000e-15
GCST010243_170	Apolipoprotein B levels	1.000000e-60
GCST010245_222	LDL cholesterol levels	6.000000e-74
GCST011346_34	Total cholesterol levels	1.000000e-12
GCST011347_55	Low density lipoprotein cholesterol levels	1.000000e-13
GCST011390_10	Corneal resistance factor	2.000000e-78
GCST011391_8	Corneal hysteresis	7.000000e-66

EFO canonical traits (19, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0006959	gene methylation measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004695	intraocular pressure measurement
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0004329	alcohol drinking
EFO:0010066	corneal hysteresis
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004615	apolipoprotein B measurement
EFO:0010067	corneal resistance factor
EFO:0600007	fish oil supplement exposure measurement
EFO:0006925	lipoprotein A measurement
EFO:0008343	sex interaction measurement
EFO:0004980	appendicular lean mass
EFO:0009188	Red cell distribution width
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCA subfamily

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
nickel sulfate	decreases expression	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation, affects methylation	2
Carbamazepine	affects expression, increases expression	2
Valproic Acid	decreases expression, decreases methylation	2
Aflatoxin B1	decreases expression, decreases methylation	2
bisphenol F	increases expression	1
methyleugenol	decreases expression	1
propylparaben	decreases expression	1
lead acetate	decreases expression	1
cupric chloride	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
bisphenol S	decreases expression	1
incobotulinumtoxinA	increases expression	1
Docetaxel	increases expression, decreases response to substance	1
Benzalkonium Compounds	decreases expression	1
Cadmium	decreases expression	1
Cisplatin	affects response to substance	1
Dexamethasone	increases expression	1
Dinitrochlorobenzene	decreases expression	1
Doxorubicin	decreases expression	1
Eugenol	decreases expression	1
Nickel	decreases expression	1
Oxazolone	decreases expression	1
Phenobarbital	affects expression	1
Progesterone	increases expression	1
Sodium Dodecyl Sulfate	decreases expression	1

Clinical trials (associated diseases)

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