ABCG8

Summary

ABCG8 (ATP binding cassette subfamily G member 8, HGNC:13887) is a protein-coding gene on chromosome 2p21, encoding ATP-binding cassette sub-family G member 8 (Q9H221). ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane.

The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.

Source: NCBI Gene 64241 — RefSeq curated summary.

At a glance

• Gene–disease (curated): sitosterolemia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 61
• Clinical variants (ClinVar): 957 total — 33 pathogenic, 22 likely-pathogenic
• Phenotypes (HPO): 62
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_022437

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13887
Approved symbol	ABCG8
Name	ATP binding cassette subfamily G member 8
Location	2p21
Locus type	gene with protein product
Status	Approved
Aliases	GBD4
Ensembl gene	ENSG00000143921
Ensembl biotype	protein_coding
OMIM	605460
Entrez	64241

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 13 protein_coding, 1 retained_intron

ENST00000272286, ENST00000643284, ENST00000644611, ENST00000881892, ENST00000881893, ENST00000881894, ENST00000881895, ENST00000881896, ENST00000881897, ENST00000881898, ENST00000881899, ENST00000881900, ENST00000881901, ENST00000881902

RefSeq mRNA: 2 — MANE Select: NM_022437 NM_001357321, NM_022437

CCDS: CCDS1815

Canonical transcript exons

ENST00000272286 — 13 exons

Exon	Start	End
ENSE00000962676	43846155	43846311
ENSE00000962677	43851584	43851822
ENSE00000962678	43852354	43852486
ENSE00000962679	43852599	43852868
ENSE00000962680	43871976	43872138
ENSE00000962681	43872223	43872306
ENSE00000962682	43873787	43873986
ENSE00000962683	43874407	43874483
ENSE00000962684	43875146	43875413
ENSE00000962685	43877561	43877688
ENSE00001200181	43844507	43844608
ENSE00001921594	43877776	43882988
ENSE00003820149	43838971	43839116

Expression profiles

Bgee: expression breadth broad, 66 present calls, max score 91.15.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5397 / max 225.1722, expressed in 20 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19988	0.5397	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	91.15	gold quality
liver	UBERON:0002107	86.49	gold quality
jejunal mucosa	UBERON:0000399	84.98	gold quality
duodenum	UBERON:0002114	80.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.30	gold quality
secondary oocyte	CL:0000655	71.83	gold quality
small intestine	UBERON:0002108	66.86	gold quality
oocyte	CL:0000023	65.52	gold quality
jejunum	UBERON:0002115	65.02	gold quality
small intestine Peyer’s patch	UBERON:0003454	64.35	gold quality
gall bladder	UBERON:0002110	59.62	gold quality
prefrontal cortex	UBERON:0000451	58.39	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	58.34	gold quality
frontal cortex	UBERON:0001870	53.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	52.85	gold quality
right frontal lobe	UBERON:0002810	52.65	gold quality
sural nerve	UBERON:0015488	52.15	gold quality
neocortex	UBERON:0001950	52.13	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	51.47	gold quality
anterior cingulate cortex	UBERON:0009835	50.93	gold quality
cerebral cortex	UBERON:0000956	49.26	gold quality
stromal cell of endometrium	CL:0002255	48.13	gold quality
intestine	UBERON:0000160	47.17	gold quality
primary visual cortex	UBERON:0002436	47.16	gold quality
biceps brachii	UBERON:0001507	46.65	gold quality
mucosa of transverse colon	UBERON:0004991	46.35	gold quality
hypothalamus	UBERON:0001898	46.26	gold quality
nucleus accumbens	UBERON:0001882	46.19	gold quality
colonic epithelium	UBERON:0000397	45.80	gold quality
occipital lobe	UBERON:0002021	45.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.19

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA4, GATA6, HNF4A, NR1H2, NR1H3, NR5A2, SREBF2

miRNA regulators (miRDB)

25 targeting ABCG8, 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-1184	99.99	68.19	1458
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-7158-5P	99.25	67.95	796
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-4769-3P	97.95	68.17	1002
HSA-MIR-6817-5P	97.95	67.86	1026
HSA-MIR-1914-5P	97.83	66.21	807
HSA-MIR-1227-3P	97.36	66.94	834
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-4423-5P	95.24	64.42	454
HSA-MIR-6781-5P	94.61	59.49	155

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• mutations in ATP-binding cassette proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia (PMID:11668628)
• Common DNA sequence polymorphisms in the ABCG8 gene contribute to heritable variation in the plasma concentrations of the plant sterols campesterol and sitosterol. (PMID:11893785)
• In a sitosterolemia patient a novel heterozygous mutation has been found in exon 5 of ABCG8 (c.584T>A; Leu195Gln). (PMID:12124998)
• several potential regulatory elements were found for the ABCG5 and ABCG8 genes, and the intergenic region was found to act as a bidirectional promoter (PMID:12150943)
• Role of ABCG5 and ABCG8 in cholesterol secretion and absorption (PMID:12208868)
• ABCG5 and ABCG8 function as obligate heterodimers to promote sterol excretion into bile (PMID:14504269)
• in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDLC-lowering response to atorvastatin therapy (PMID:14703505)
• Genetic variations in the ABCG8 gene may play a role in the genetic determination of plasma cholesterol levels and could possibly influence the gender-specific response of plasma cholesterol levels after dietary changes. (PMID:15311998)
• ABCGG5 and ABCG8 are required to modulate biliary cholesterol secretion in response to cholate and diosgenin. (PMID:15611112)
• MDR2 expression is required for ABCG5- and ABCG8-mediated biliary sterol secretion. Inactivation of MDR2 markedly attenuated the reduction in fractional sterol absorption associated with ABCG5, ABCG8 overexpression (PMID:15930516)
• Two genes, ABCG5 and ABCG8, compose the sitosterolemia locus, and complete mutation in either, but not both, results in disease. (PMID:16472606)
• In diabetic patients statin therapy is associated wiwth increased mRNA. (PMID:16518588)
• Purified ABCG5 and ABCG8 had very low ATPase activities, suggesting that the hetero-dimer is the catalytically active species, and likely the active species in vivo. (PMID:16893193)
• Polymorphisms at the half-transporter ABCG5 and ABCG8 genes affect blood cholesterol concentrations in prepubertal children by influencing dietary responsiveness. (PMID:16980816)
• biochemical and functional characterization of the ABCG5/ABCG8 proteins and their possible involvement in steroid hormone transport or regulation. (PMID:17055487)
• Increased NPC1L1 and lower ABCG5 abd ABCG8 may lead to increased cholesterol and sitosterol in chylomicron particles in diabetic patients. (PMID:17102949)
• Cooperative interaction between HNF4A and GATA4 and GATA6 regulates ABCG5 and ABCG8. (PMID:17403900)
• These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of gallstone disease in males. (PMID:17612515)
• The results of the genetic study taken together indicate that in gallstone-susceptible carriers of the ABCG8 19H allele, cholesterol cholelithiasis is secondary to increased hepatobiliary cholesterol secretion. (PMID:17626266)
• An association scan of >500,000 SNPs in individuals with gallstones and controls was performed; a follow-up study of the 235 most significant SNPs in affected individuals and controls replicated the disease association of SNP A-1791411 in ABCG8. (PMID:17632509)
• results indicate that ABCG5/G8, unlike ABCA1, together with bile acids should participate in sterol efflux on the apical surface of Caco-2 cells. (PMID:17690481)
• Single nucleotide polymorphisms in ABCG8 are associated with changes in cholesterol metabolism during weight loss (PMID:17827468)
• Upregulation of ABCG5/ABCG8 in gallstone patients, possibly mediated by increased liver X receptor alpha, may contribute to the cholesterol supersaturation of bile, a prerequisite for gallstone formation. (PMID:18007013)
• Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index. (PMID:18457353)
• links between polymorphisms of ABC G8A (ABCG8) transporter gene to hypercholesterolemia and to gallstone disease risk (Review) (PMID:18522623)
• Coexistence of higher insulin resistance and hypercholesterolemia for carriers of the aspartate-19-histidine polymorphism may result in a greater risk of cardiovascular disease. (PMID:18581044)
• No common polymorphisms in ABCG8, ABCG5, or NPC1L1 were demonstrated between the 3 top responders and the non-respondersto plant sterol intervention. (PMID:18641716)
• Results describe the association between ABCG5/G8 and NPC1L1 genotype single nucleotide polymorphisms with sterol absorption and corresponding plasma concentrations. (PMID:18850127)
• Genetic variation in the ABCG8 gene may influence the burden of atherosclerosis in familial hypercholesteremia. (PMID:18977479)
• ABCG5/G8 genetic variants modulate HDL-C concentrations, leading to an HDL-C-lowering effect and thereby a potential increased risk for atherosclerosis only in smokers. (PMID:19005228)
• In Chilean patients, the ABCG5 1950C>G polymorphism, but not the ABCG8 251A>G polymorphism, was found to be associated with hypercholesterolemia. (PMID:19012522)
• The DH genotype and the H allele of the ABCG8 D19H polymorphism are associated with Gallbladder cancer susceptibility. (PMID:19018975)
• Most Asian phytosterolemia patients possess mutations in the ABCG5 gene. The site of the novel mutation was completely different from previous reports. No other mutation was found in the ABCG5 and ABCG8 genes. (PMID:19111681)
• To examine the molecular mechanisms of the regulated trafficking of ABCG5 and ABCG8, the subcellular localizations of chimeric proteins, fused with ABCG1 or ABCG2, were analyzed. (PMID:19270375)
• Insulin resistance elevates ABCG8 and increases susceptibility to cholesterol gallstones (PMID:19306529)
• The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants. (PMID:19692220)
• For the ABCG8 gene, the rs4148211 polymorphism was associated with higher plasma total cholesterol and LDLcholesterol concentrations in the total population. (PMID:20170916)
• Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia (PMID:20172523)
• Bile acids may promote an active conformation of purified ABCG5/G8 either by global stabilization of the transporter or by binding to a specific site on ABCG5/G8. (PMID:20210363)
• strong association of sequence variants of HMGCR, SREBF1 and ABCG8 genes with the reduction of LDL-C after statin treatment in a Chinese population (PMID:20235787)

Cross-species orthologs

14 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcg8	ENSDARG00000063059
mus_musculus	Abcg8	ENSMUSG00000024254
rattus_norvegicus	Abcg8	ENSRNOG00000005420
drosophila_melanogaster	st	FBGN0003515
drosophila_melanogaster	w	FBGN0003996
drosophila_melanogaster	Atet	FBGN0020762
drosophila_melanogaster	CG4822	FBGN0031220
drosophila_melanogaster	CG31689	FBGN0031449
drosophila_melanogaster	CG9663	FBGN0031516
drosophila_melanogaster	CG31121	FBGN0051121
drosophila_melanogaster	CG32091	FBGN0052091
caenorhabditis_elegans		WBGENE00006522
caenorhabditis_elegans		WBGENE00015479
caenorhabditis_elegans		WBGENE00017179

Paralogs (4): ABCG2 (ENSG00000118777), ABCG5 (ENSG00000138075), ABCG1 (ENSG00000160179), ABCG4 (ENSG00000172350)

Protein

Protein identifiers

ATP-binding cassette sub-family G member 8 — Q9H221 (reviewed: Q9H221)

Alternative names: Sterolin-2

All UniProt accessions (2): Q9H221, A0A2R8Y6M1

UniProt curated annotations — full annotation on UniProt →

Function. ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG5 has ATPase activity.

Subunit / interactions. Heterodimer with ABCG8.

Subcellular location. Cell membrane. Apical cell membrane.

Tissue specificity. Predominantly expressed in the liver. Low expression levels in the small intestine and colon. Very low levels in other tissues, including brain, heart and spleen.

Post-translational modifications. N-glycosylated.

Disease relevance. Gallbladder disease 4 (GBD4) [MIM:611465] One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. Disease susceptibility may be associated with variants affecting the gene represented in this entry. Sitosterolemia 1 (STSL1) [MIM:210250] A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. The ATPase activity of the heterodimer is stimulated by cholate. Taurocholate, glycocholate, taurochenodeoxycholate, glycochenodeoxycholate and taurodeoxycholate also stimulate ATPase activity, but to a lower degree. Glycodeoxycholate has no significant effect on ATPase activity. ATPase activity is inhibited by vanadate and by berillium fluoride.

Domain organisation. A functional Walker motif (consensus sequence G-X-X-G-X-G-K-[ST]-T) is expected to bind ATP. The essential Lys in this region is not conserved in ABCG8 (G-S-S-G-C-R-A-S) and is not required for transport activity mediated by the heterodimer with ABCG5.

Miscellaneous. Minor form detected in approximately 10% of the cDNA clones.

Similarity. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H221-1	1	yes
Q9H221-2	2

RefSeq proteins (2): NP_001344250, NP_071882* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR013525	ABC2_TM	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR043926	ABCG_dom	Domain
IPR050352	ABCG_transporters	Family

Pfam: PF00005, PF01061, PF19055

Catalyzed reactions (Rhea), 2 shown:

• cholesterol(in) + ATP + H2O = cholesterol(out) + ADP + phosphate + H(+) (RHEA:39051)
• sitosterol(in) + ATP + H2O = sitosterol(out) + ADP + phosphate + H(+) (RHEA:39103)

UniProt features (89 total): helix 24, sequence variant 21, strand 17, topological domain 7, transmembrane region 6, turn 6, domain 2, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
7R89	ELECTRON MICROSCOPY	2.6
7R8A	ELECTRON MICROSCOPY	2.9
7R8B	ELECTRON MICROSCOPY	3.1
7JR7	ELECTRON MICROSCOPY	3.3
7R87	ELECTRON MICROSCOPY	3.4
7R88	ELECTRON MICROSCOPY	3.5
5DO7	X-RAY DIFFRACTION	3.93
8CUB	X-RAY DIFFRACTION	4.05

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H221-F1	80.94	0.39

Antibody-complex structures (SAbDab): 6 — 7JR7, 7R87, 7R88, 7R89, 7R8A, 7R8B

Functional residue map

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

Glycosylation sites (1): 619

Mutagenesis-validated functional residues (1):

Position	Phenotype
216	loss of atpase activity.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-1369062	ABC transporters in lipid homeostasis
R-HSA-5679090	Defective ABCG8 causes GBD4 and sitosterolemia
R-HSA-5679096	Defective ABCG5 causes sitosterolemia
R-HSA-9029569	NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport
R-HSA-5619084	ABC transporter disorders
R-HSA-5619115	Disorders of transmembrane transporters
R-HSA-9006931	Signaling by Nuclear Receptors
R-HSA-9024446	NR1H2 and NR1H3-mediated signaling

MSigDB gene sets: 234 (showing top): GOBP_ACYLGLYCEROL_HOMEOSTASIS, GOBP_DIGESTION, GOBP_STEROL_HOMEOSTASIS, GOBP_LIPID_DIGESTION, KEGG_ABC_TRANSPORTERS, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_LIPID_HOMEOSTASIS, GOBP_CHOLESTEROL_EFFLUX, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GATA3_01, AAAGACA_MIR511, GOBP_DIGESTIVE_SYSTEM_PROCESS, GATA1_04, GOBP_REGULATION_OF_DIGESTIVE_SYSTEM_PROCESS

GO Biological Process (15): response to nutrient (GO:0007584), response to xenobiotic stimulus (GO:0009410), negative regulation of intestinal phytosterol absorption (GO:0010949), response to muscle activity (GO:0014850), phospholipid transport (GO:0015914), sterol transport (GO:0015918), intestinal cholesterol absorption (GO:0030299), cholesterol efflux (GO:0033344), cholesterol homeostasis (GO:0042632), negative regulation of intestinal cholesterol absorption (GO:0045796), transmembrane transport (GO:0055085), triglyceride homeostasis (GO:0070328), lipid transport (GO:0006869), response to nutrient levels (GO:0031667), sterol homeostasis (GO:0055092)

GO Molecular Function (9): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), ATPase-coupled transmembrane transporter activity (GO:0042626), metal ion binding (GO:0046872), protein heterodimerization activity (GO:0046982), cholesterol transfer activity (GO:0120020), ABC-type transporter activity (GO:0140359), protein binding (GO:0005515), protein dimerization activity (GO:0046983)

GO Cellular Component (5): plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), ATP-binding cassette (ABC) transporter complex (GO:0043190), signaling receptor complex (GO:0043235), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
ABC transporter disorders	2
ABC-family protein mediated transport	1
NR1H2 and NR1H3-mediated signaling	1
Transport of small molecules	1
Disorders of transmembrane transporters	1
Disease	1
Signal Transduction	1
Signaling by Nuclear Receptors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to chemical	2
negative regulation of intestinal lipid absorption	2
lipid transport	2
transport	2
ATP-dependent activity	2
response to nutrient levels	1
intestinal phytosterol absorption	1
response to activity	1
organophosphate ester transport	1
organic hydroxy compound transport	1
lipid digestion	1
intestinal lipid absorption	1
cholesterol transport	1
sterol homeostasis	1
intestinal cholesterol absorption	1
regulation of intestinal cholesterol absorption	1
cellular process	1
acylglycerol homeostasis	1
lipid localization	1
response to stimulus	1
lipid homeostasis	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
cation binding	1
protein dimerization activity	1
cholesterol binding	1
sterol transfer activity	1
ATPase-coupled transmembrane transporter activity	1
binding	1
protein binding	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
ATPase dependent transmembrane transport complex	1
plasma membrane protein complex	1
protein-containing complex	1

Protein interactions and networks

STRING

1883 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCG8	ABCG5	Q9H222	988
ABCG8	SREBF2	Q12772	913
ABCG8	XPR1	Q9UBH6	901
ABCG8	NPC1L1	Q9UHC9	878
ABCG8	CYP7A1	P22680	863
ABCG8	NR1H3	Q13133	832
ABCG8	CYP7B1	O75881	805
ABCG8	NR1H4	Q96RI1	805
ABCG8	NR1H2	P55055	803
ABCG8	HMGCR	P04035	794
ABCG8	SREBF1	P36956	772
ABCG8	SCARB1	Q8WTV0	681
ABCG8	APOB	P04114	679
ABCG8	LDLRAP1	Q5SW96	674
ABCG8	PCSK9	Q8NBP7	668

IntAct

14 interactions, top by confidence:

A	B	Type	Score
MESD	ABCG8	psi-mi:“MI:0915”(physical association)	0.560
ABCG5	ABCG8	psi-mi:“MI:0915”(physical association)	0.400
ABCG8	AKT2	psi-mi:“MI:0915”(physical association)	0.370
LMNB1	ABCG8	psi-mi:“MI:0915”(physical association)	0.370
ABCG8	NUPR1	psi-mi:“MI:0915”(physical association)	0.370
ABCG8	ANG	psi-mi:“MI:0915”(physical association)	0.370
NR4A1	ABCG8	psi-mi:“MI:0915”(physical association)	0.370
ABCG8	AGPAT2	psi-mi:“MI:0915”(physical association)	0.370
MAL2	ABCG8	psi-mi:“MI:0915”(physical association)	0.370
ABCG8	TSPAN3	psi-mi:“MI:0914”(association)	0.350
ABCG8	MESD	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): TSPAN3 (Affinity Capture-MS), PTPRD (Affinity Capture-MS), CD320 (Affinity Capture-MS), NOTCH3 (Affinity Capture-MS), TMEM184B (Affinity Capture-MS), ABCG8 (Two-hybrid), ABCG8 (Affinity Capture-Western), CD320 (Affinity Capture-MS), NOTCH3 (Affinity Capture-MS), PTPRD (Affinity Capture-MS), TSPAN3 (Affinity Capture-MS), GATAD2B (Cross-Linking-MS (XL-MS)), ABCG8 (Co-fractionation), ABCG8 (Co-fractionation), ABCG8 (Co-fractionation)

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, A0A0M4FLW6, 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, P25371, P32568, P33302

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SREBF2	“down-regulates quantity by repression”	ABCG8	“transcriptional regulation”
HNF4A	“down-regulates quantity by repression”	ABCG8	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	33
Likely pathogenic	22
Uncertain significance	464
Likely benign	262
Benign	61

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1441157	NM_022437.3(ABCG8):c.1476T>A (p.Tyr492Ter)	Pathogenic
1447169	NM_022437.3(ABCG8):c.647del (p.Gly216fs)	Pathogenic
1698995	NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter)	Pathogenic
1705270	NM_022437.3(ABCG8):c.1938_1939delinsT (p.Val647fs)	Pathogenic
1983599	NM_022437.3(ABCG8):c.562-1G>C	Pathogenic
2076036	NM_022437.3(ABCG8):c.490C>T (p.Arg164Ter)	Pathogenic
2117818	NM_022437.3(ABCG8):c.687G>A (p.Trp229Ter)	Pathogenic
2416955	NM_022437.3(ABCG8):c.386C>A (p.Ser129Ter)	Pathogenic
2439032	NM_022437.3(ABCG8):c.1756+2T>A	Pathogenic
2733772	NM_022437.3(ABCG8):c.361C>T (p.Arg121Ter)	Pathogenic
2810730	NM_022437.3(ABCG8):c.196G>T (p.Glu66Ter)	Pathogenic
2815554	NM_022437.3(ABCG8):c.1405_1406del (p.Ser469fs)	Pathogenic
2821437	NM_022437.3(ABCG8):c.1288del (p.Thr430fs)	Pathogenic
3247570	NC_000002.11:g.(?44078703)(44080027_?)del	Pathogenic
3716703	NM_022437.3(ABCG8):c.1418C>A (p.Ser473Ter)	Pathogenic
3720322	NM_022437.3(ABCG8):c.1214G>A (p.Arg405His)	Pathogenic
3721979	NM_022437.3(ABCG8):c.111C>G (p.Tyr37Ter)	Pathogenic
39520	NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)	Pathogenic
4613346	NM_022437.3(ABCG8):c.1533C>A (p.Tyr511Ter)	Pathogenic
4705536	NM_022437.3(ABCG8):c.161_162delinsGA (p.Tyr54Ter)	Pathogenic
4706185	NM_022437.3(ABCG8):c.280A>T (p.Lys94Ter)	Pathogenic
4713119	NM_022437.3(ABCG8):c.1719del (p.Gly575fs)	Pathogenic
4733548	NM_022437.3(ABCG8):c.1272dup (p.Cys425fs)	Pathogenic
4770931	NM_022437.3(ABCG8):c.1126del (p.Ser376fs)	Pathogenic
4848608	NC_000002.11:g.(?44066109)(44110128_?)del	Pathogenic
4973	NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg)	Pathogenic
4974	NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr)	Pathogenic
499942	NM_022437.3(ABCG8):c.64-2A>G	Pathogenic
500779	NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter)	Pathogenic
546173	NM_022437.3(ABCG8):c.965-1G>C	Pathogenic

SpliceAI

2417 predictions. Top by Δscore:

Variant	Effect	Δscore
2:43839114:TCGG:T	donor_loss	1.0000
2:43839117:G:GG	donor_gain	1.0000
2:43839118:T:G	donor_loss	1.0000
2:43839121:G:GG	donor_gain	1.0000
2:43851821:GG:G	donor_gain	1.0000
2:43851822:GG:G	donor_gain	1.0000
2:43852592:T:A	acceptor_gain	1.0000
2:43852865:TATGG:T	donor_loss	1.0000
2:43852866:ATGGT:A	donor_loss	1.0000
2:43852867:TGGTG:T	donor_loss	1.0000
2:43852868:GGTGA:G	donor_loss	1.0000
2:43852869:G:GG	donor_gain	1.0000
2:43852869:GTGAG:G	donor_loss	1.0000
2:43852870:T:A	donor_loss	1.0000
2:43852871:GAG:G	donor_loss	1.0000
2:43873784:A:AG	acceptor_gain	1.0000
2:43873784:AAGTC:A	acceptor_gain	1.0000
2:43873785:A:AG	acceptor_gain	1.0000
2:43873786:G:GG	acceptor_gain	1.0000
2:43873786:GT:G	acceptor_gain	1.0000
2:43873786:GTC:G	acceptor_gain	1.0000
2:43873983:AAAT:A	donor_gain	1.0000
2:43873984:AAT:A	donor_gain	1.0000
2:43873984:AATG:A	donor_loss	1.0000
2:43873985:AT:A	donor_gain	1.0000
2:43873986:TG:T	donor_loss	1.0000
2:43873987:G:GG	donor_gain	1.0000
2:43873987:GTG:G	donor_loss	1.0000
2:43873988:T:A	donor_loss	1.0000
2:43874402:TTTA:T	acceptor_loss	1.0000

AlphaMissense

4420 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:43852781:T:G	Y293D	0.985
2:43852646:G:C	A248P	0.984
2:43852680:C:A	A259D	0.980
2:43852656:T:C	L251P	0.978
2:43852637:A:C	S245R	0.976
2:43852639:C:A	S245R	0.976
2:43852639:C:G	S245R	0.976
2:43875383:T:C	F576L	0.972
2:43875385:C:A	F576L	0.972
2:43875385:C:G	F576L	0.972
2:43846294:C:A	A102D	0.970
2:43852462:G:T	G224W	0.969
2:43852463:G:A	G224E	0.969
2:43852815:T:C	F304S	0.969
2:43844583:T:C	L47P	0.968
2:43873932:T:C	F453L	0.966
2:43873934:C:A	F453L	0.966
2:43873934:C:G	F453L	0.966
2:43852382:T:A	L197H	0.964
2:43852865:T:G	Y321D	0.963
2:43877608:G:A	G602R	0.963
2:43877608:G:C	G602R	0.963
2:43844589:T:A	V49D	0.962
2:43852852:T:A	N316K	0.962
2:43852852:T:G	N316K	0.962
2:43852376:T:C	L195P	0.961
2:43852472:T:C	L227P	0.961
2:43852635:A:T	D244V	0.961
2:43844598:T:C	L52P	0.960
2:43852692:G:C	R263P	0.960

dbSNP variants (sampled 300 via entrez): RS1000032187 (2:43861603 C>T), RS1000039012 (2:43873393 C>A,T), RS1000105206 (2:43861787 T>A), RS1000133433 (2:43861980 G>C), RS1000193100 (2:43879964 C>T), RS1000195436 (2:43849370 G>A), RS1000232498 (2:43856093 ACTAT>A), RS1000284789 (2:43856332 C>A,T), RS1000291485 (2:43844563 C>A,G), RS1000304138 (2:43865999 A>G), RS1000343728 (2:43871074 C>G,T), RS1000417444 (2:43871206 A>C,G,T), RS1000456024 (2:43847334 T>A), RS1000533856 (2:43878999 C>A,G,T), RS1000613547 (2:43875236 C>A)

Disease associations

OMIM: gene MIM:605460 | disease phenotypes: MIM:210250, MIM:611465, MIM:215250

GenCC curated gene-disease

Disease	Classification	Inheritance
sitosterolemia	Definitive	Autosomal recessive
sitosterolemia 1	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
sitosterolemia	Definitive	AR

Mondo (4): sitosterolemia 1 (MONDO:0020747), gallbladder disease 4 (MONDO:1010151), sitosterolemia (MONDO:0008863), thrombocytopenia (MONDO:0002049)

Orphanet (2): Sitosterolemia (Orphanet:2882), Mediterranean macrothrombocytopenia (Orphanet:101022)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000799	Renal steatosis
HP:0000822	Hypertension
HP:0000991	Xanthomatosis
HP:0001081	Cholelithiasis
HP:0001084	Corneal arcus
HP:0001114	Xanthelasma
HP:0001138	Optic neuropathy
HP:0001369	Arthritis
HP:0001397	Hepatic steatosis
HP:0001645	Sudden cardiac death
HP:0001650	Aortic valve stenosis
HP:0001653	Mitral regurgitation
HP:0001658	Myocardial infarction
HP:0001677	Coronary artery atherosclerosis
HP:0001681	Angina pectoris
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001878	Hemolytic anemia
HP:0001892	Abnormal bleeding
HP:0001902	Giant platelets
HP:0001903	Anemia
HP:0001920	Renal artery stenosis
HP:0001923	Reticulocytosis
HP:0002027	Abdominal pain
HP:0002094	Dyspnea
HP:0002829	Arthralgia
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003077	Hyperlipidemia
HP:0003124	Hypercholesterolemia

GWAS associations

61 associations (top):

Study	Trait	p-value
GCST000055_1	Gallstone disease	1.000000e-14
GCST000287_5	LDL cholesterol	2.000000e-20
GCST000533_53	Lipid metabolism phenotypes	2.000000e-08
GCST000694_1	Phytosterol levels	6.000000e-25
GCST000694_2	Phytosterol levels	2.000000e-50
GCST000759_27	LDL cholesterol	2.000000e-47
GCST000760_6	Cholesterol, total	4.000000e-45
GCST002042_2	LDL cholesterol	1.000000e-09
GCST002221_5	Cholesterol, total	3.000000e-73
GCST002896_41	Cholesterol, total	6.000000e-33
GCST002898_35	LDL cholesterol	2.000000e-35
GCST003679_3	C-reactive protein levels or LDL-cholesterol levels (pleiotropy)	9.000000e-33
GCST003725_1	Gallstone disease	5.000000e-31
GCST003725_3	Gallstone disease	2.000000e-75
GCST004209_5	Cholesterol, total	2.000000e-11
GCST004787_46	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	6.000000e-10
GCST005194_42	Coronary artery disease	5.000000e-17
GCST005195_129	Coronary artery disease	2.000000e-18
GCST005196_202	Coronary artery disease	6.000000e-19
GCST006612_50	LDL cholesterol	6.000000e-94
GCST006614_15	Total cholesterol levels	1.000000e-72
GCST007050_2	Gallstone disease	3.000000e-08
GCST007209_22	Gallstone disease	0.000000e+00
GCST007364_1	Gallstone disease	9.000000e-06
GCST007924_12	Medication use (antithrombotic agents)	7.000000e-09
GCST007931_43	Medication use (HMG CoA reductase inhibitors)	2.000000e-10
GCST007931_85	Medication use (HMG CoA reductase inhibitors)	9.000000e-48
GCST008077_45	LDL cholesterol levels	1.000000e-09
GCST008077_51	LDL cholesterol levels	5.000000e-31
GCST008077_6	LDL cholesterol levels	3.000000e-19

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004529	lipid measurement
EFO:0004862	phytosterol measurement
EFO:0004574	total cholesterol measurement
EFO:0004458	C-reactive protein measurement
EFO:0009925	Antithrombotic agent use measurement
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0004329	alcohol drinking
EFO:0004615	apolipoprotein B measurement
EFO:0009749	age at first sexual intercourse measurement
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937
C537345	Sitosterolemia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs11887534	Efficacy	3	atorvastatin	Coronary Artery Disease;Hypercholesterolemia

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11887534	ABCG5, ABCG8	3	0.25	1	atorvastatin

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — ABCG subfamily

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, affects cotreatment	4
Benzo(a)pyrene	decreases methylation, decreases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, increases expression	3
alisol B 23-acetate	decreases reaction, increases expression	2
Resveratrol	affects cotreatment, decreases expression	2
Acetaminophen	decreases expression, affects cotreatment	2
Chenodeoxycholic Acid	increases expression, affects cotreatment, decreases expression	2
Rotenone	affects cotreatment, decreases expression	2
Valproic Acid	affects methylation, decreases expression, decreases methylation	2
Aflatoxin B1	affects expression, decreases expression, decreases methylation	2
aristolochic acid I	increases expression	1
aminomethylphosphonic acid (AMPA)	decreases expression	1
7-ketocholesterol	affects cotreatment, decreases expression	1
methyleugenol	decreases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, decreases expression	1
3-DOXYLANDROSTANOL	affects binding, increases activity	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	decreases expression	1
pregna-4,17-diene-3,16-dione	decreases reaction, increases expression	1
beta-hexachlorocyclohexane	increases expression	1
nefazodone	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
2,4,6-trimethyl-N-((3’-(methylsulfonyl)-4-biphenylyl)methyl)-N-((5-(trifluoromethyl)-2-furanyl)methyl)benzenesulfonamide	increases expression, decreases reaction	1
Dasatinib	increases expression, increases phosphorylation, decreases reaction	1
Atazanavir Sulfate	affects cotreatment, decreases expression	1
Leflunomide	decreases expression	1
Glyphosate	decreases expression	1
Androstenedione	affects binding, increases activity	1
Chlorpromazine	affects expression, affects cotreatment	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01822262	PHASE4	UNKNOWN	Contrastive Study for Minimally Invasive Cholecystolithotomy With Gallbladder Reservation and Laparoscopic Cholecystectomy
NCT02472509	PHASE4	TERMINATED	The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00239733	PHASE4	TERMINATED	Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection
NCT00907478	PHASE4	COMPLETED	Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP)
NCT01727401	PHASE4	TERMINATED	Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia
NCT02032134	PHASE4	TERMINATED	Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia
NCT02267993	PHASE4	COMPLETED	Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients
NCT03633019	PHASE4	UNKNOWN	High-dose Use of rhTPO in CIT Patients
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04906083	PHASE4	UNKNOWN	Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia
NCT05217719	PHASE4	UNKNOWN	Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients
NCT05255003	PHASE4	RECRUITING	STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis
NCT05382013	PHASE4	UNKNOWN	Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment
NCT05944458	PHASE4	COMPLETED	Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients
NCT06562738	PHASE4	RECRUITING	Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia
NCT00037791	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00039910	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00073580	PHASE3	COMPLETED	Angiomax in Patients With HIT/HITTS Type II Undergoing Off-Pump Coronary Artery Bypass Grafting (CABG) (CHOOSE)
NCT00102323	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Refractory to Splenectomy
NCT00102336	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Prior to Splenectomy
NCT00116688	PHASE3	COMPLETED	Open Label Extension Study of Romiplostim (AMG 531) in Thrombocytopenic Patients With Immune (Idiopathic) Thrombocytopenic Purpura (ITP)
NCT00128713	PHASE3	COMPLETED	Optimal Platelet Dose Strategy for Management of Thrombocytopenia
NCT00151866	PHASE3	COMPLETED	Efficacy of Transfusions With Platelets Stored in Platelet Additive Solution II Versus Plasma
NCT00261924	PHASE3	COMPLETED	Efficacy and Safety Study of Platelets Treated for Pathogen Inactivation and Stored for Up to Seven Days
NCT00415532	PHASE3	COMPLETED	Romiplostim (AMG 531) Versus Medical Standard of Care for Immune (Idiopathic) Thrombocytopenic Purpura
NCT00420914	PHASE3	TERMINATED	Strategies for Transfusion of Platelets (SToP)
NCT00501345	PHASE3	TERMINATED	Aspirin in Patients With Myocardial Infarction and Thrombocytopenia
NCT00508820	PHASE3	COMPLETED	An Open Label Study of Romiplostim in Adult Thrombocytopenic Subjects With ITP
NCT00678587	PHASE3	TERMINATED	Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures
NCT01438840	PHASE3	COMPLETED	Efficacy and Safety of Oral E5501 Plus Standard of Care for the Treatment of Thrombocytopenia in Adults With Chronic Immune Thrombocytopenia (Amendment 02)
NCT01444417	PHASE3	COMPLETED	Safety and Efficacy Study of Romiplostim to Treat Immune Thrombocytopenia (ITP) in Pediatric Patients
NCT01805648	PHASE3	UNKNOWN	Efficacy and Safety Study of Maintenance Treatment With rhTPO in Thrombocytopenic Subjects With ITP
NCT02244658	PHASE3	UNKNOWN	Recombinant Human Thrombopoietin (rhTPO) in Management of Chemotherapy-induced Thrombocytopenia in Acute Myelocytic Leukemia
NCT02389621	PHASE3	COMPLETED	Safety and Efficacy Study of Lusutrombopag for Thrombocytopenia in Patients With Chronic Liver Disease Undergoing Elective Invasive Procedures
NCT02444728	PHASE3	TERMINATED	Cyclophosphamide and Hydroxychloroquine for Thrombocytopenia in SLE
NCT02487563	PHASE3	COMPLETED	Prospective Study of Patients With Thrombocytopenia Following HSCT
NCT02578901	PHASE3	COMPLETED	American Trial Using Tranexamic Acid in Thrombocytopenia
NCT03326843	PHASE3	TERMINATED	Avatrombopag for the Treatment of Thrombocytopenia in Adults Scheduled for a Surgical Procedure
NCT03515096	PHASE3	COMPLETED	Eltrombopag vs. rhTPO to Increase Platelet Level After HSCT