ASGR2

Summary

ASGR2 (asialoglycoprotein receptor 2, HGNC:743) is a protein-coding gene on chromosome 17p13.1, encoding Asialoglycoprotein receptor 2 (P07307). Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed.

This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 433 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_001201352

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:743
Approved symbol	ASGR2
Name	asialoglycoprotein receptor 2
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	CLEC4H2
Ensembl gene	ENSG00000161944
Ensembl biotype	protein_coding
OMIM	108361
Entrez	433

Gene structure

Transcript identifiers

Ensembl transcripts: 84 — 82 protein_coding, 2 retained_intron

ENST00000254850, ENST00000355035, ENST00000446679, ENST00000450034, ENST00000574868, ENST00000576487, ENST00000691900, ENST00000870979, ENST00000870980, ENST00000870981, ENST00000870982, ENST00000870983, ENST00000870984, ENST00000870985, ENST00000870986, ENST00000870987, ENST00000870988, ENST00000870989, ENST00000870990, ENST00000870991, ENST00000870992, ENST00000870993, ENST00000870994, ENST00000870995, ENST00000870996, ENST00000870997, ENST00000870998, ENST00000870999, ENST00000871000, ENST00000871001, ENST00000871002, ENST00000871003, ENST00000871004, ENST00000871005, ENST00000871006, ENST00000871007, ENST00000871008, ENST00000871009, ENST00000871010, ENST00000871011, ENST00000871012, ENST00000871013, ENST00000871014, ENST00000871015, ENST00000871016, ENST00000871017, ENST00000871018, ENST00000871019, ENST00000871020, ENST00000871021, ENST00000871022, ENST00000871023, ENST00000871024, ENST00000871025, ENST00000871026, ENST00000871027, ENST00000871028, ENST00000871029, ENST00000871030, ENST00000871031, ENST00000871032, ENST00000871033, ENST00000871034, ENST00000871035, ENST00000871036, ENST00000871037, ENST00000871038, ENST00000871039, ENST00000871040, ENST00000871041, ENST00000871042, ENST00000871043, ENST00000871044, ENST00000871045, ENST00000871046, ENST00000871047, ENST00000871048, ENST00000871049, ENST00000871050, ENST00000871051, ENST00000871052, ENST00000871053, ENST00000871054, ENST00000955571

RefSeq mRNA: 5 — MANE Select: NM_001201352 NM_001181, NM_001201352, NM_080912, NM_080913, NM_080914

CCDS: CCDS11088, CCDS32544, CCDS45598, CCDS92242

Canonical transcript exons

ENST00000691900 — 9 exons

Exon	Start	End
ENSE00000680346	7107836	7107907
ENSE00001801354	7114117	7114310
ENSE00003296001	7102090	7102196
ENSE00003354648	7107000	7107151
ENSE00003406452	7107231	7107317
ENSE00003527180	7108462	7108557
ENSE00003571955	7108772	7108888
ENSE00003926710	7114615	7114822
ENSE00003928890	7101326	7101740

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 99.45.

FANTOM5 (CAGE): breadth broad, TPM avg 3.4069 / max 562.9304, expressed in 195 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164098	1.7157	68
164103	0.6817	104
164100	0.3440	32
164101	0.1725	64
164104	0.1554	59
164099	0.1253	17
164096	0.0755	26
164097	0.0735	13
164102	0.0635	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.45	gold quality
liver	UBERON:0002107	99.06	gold quality
monocyte	CL:0000576	95.10	gold quality
mononuclear cell	CL:0000842	95.07	gold quality
leukocyte	CL:0000738	95.02	gold quality
granulocyte	CL:0000094	94.83	gold quality
blood	UBERON:0000178	86.42	gold quality
gall bladder	UBERON:0002110	84.51	gold quality
triceps brachii	UBERON:0001509	81.67	gold quality
gluteal muscle	UBERON:0002000	81.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.92	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.48	gold quality
bone marrow	UBERON:0002371	74.98	gold quality
vermiform appendix	UBERON:0001154	74.89	gold quality
superficial temporal artery	UBERON:0001614	74.77	gold quality
spleen	UBERON:0002106	74.35	gold quality
caput epididymis	UBERON:0004358	73.98	gold quality
skin of leg	UBERON:0001511	73.92	gold quality
trabecular bone tissue	UBERON:0002483	73.22	silver quality
right lung	UBERON:0002167	72.55	gold quality
caecum	UBERON:0001153	72.49	gold quality
mucosa of paranasal sinus	UBERON:0005030	71.75	gold quality
zone of skin	UBERON:0000014	71.64	gold quality
skin of abdomen	UBERON:0001416	71.21	gold quality
bone marrow cell	CL:0002092	71.12	silver quality
oocyte	CL:0000023	69.90	gold quality
gingival epithelium	UBERON:0001949	69.39	gold quality
vastus lateralis	UBERON:0001379	69.29	gold quality
type B pancreatic cell	CL:0000169	68.54	gold quality
quadriceps femoris	UBERON:0001377	68.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting ASGR2, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-4264	96.35	64.76	1480
HSA-MIR-6742-5P	96.32	64.01	869
HSA-MIR-122-3P	94.51	65.61	75
HSA-MIR-6761-3P	77.17	65.96	50

Literature-anchored findings (GeneRIF, showing 10)

• The minor subunit splice variants, H2b and H2c, of the human asialoglycoprotein receptor are present with the major subunit H1 in different hetero-oligomeric receptor complexes (PMID:11943787)
• trafficks intracellularly and forms homo-oligomers, but does not bind asialo-orosomucoid (PMID:12089159)
• primary renal proximal tubular epithelial cells have a functional ASGPR, consisting of the H1 and H2 subunits, that is capable of specific ligand binding and uptake (PMID:12119473)
• Exposure of beta-galactose results in the rapid clearance of platelets from the circulation by asialoglycoprotein receptor-expressing liver macrophages and hepatocytes. (PMID:19520807)
• found that the asialoglycoprotein receptor (ASGPR) is involved in hepatocyte recognition of cells predestined for killing, including activated autologous T lymphocytes (PMID:21656538)
• sH2a has the potential to be a uniquely sensitive and specific novel marker for liver fibrosis and function. (PMID:22096539)
• the distribution of ASGR in human testis, was investigated. (PMID:23604802)
• findings show that the hepatitis E virus (HEV) ORF2 protein interacts directly with the ectodomain of both ASGR1 and ASGR2; ASGPR is involved in and facilitates HEV infection by binding to ORF2 (PMID:27155063)
• PEGylated lipoplexes were well tolerated by both HEK293 (ASGP-R-negative) and HepG2 (ASGP-R-positive) cell lines and delivered DNA to the hepatoma cell line HepG2 by ASGP-R mediation at levels three-fold greater than nonPEGylated lipoplexes. (PMID:28063265)
• Although gastric cancer cell-invasive activity was significantly decreased by knockdown, forced expression of ASGR2 promoted invasive activity. (PMID:29784667)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
mus_musculus	Asgr2	ENSMUSG00000040963
rattus_norvegicus	Asgr2	ENSRNOG00000030726
drosophila_melanogaster	tfc	FBGN0035199
drosophila_melanogaster	CG14866	FBGN0038315
drosophila_melanogaster	lectin-46Cb	FBGN0040092
drosophila_melanogaster	lectin-46Ca	FBGN0040093
drosophila_melanogaster	lectin-33A	FBGN0040096
drosophila_melanogaster	CG34033	FBGN0054033
caenorhabditis_elegans	clec-87	WBGENE00007709
caenorhabditis_elegans	clec-91	WBGENE00014117
caenorhabditis_elegans		WBGENE00016088
caenorhabditis_elegans		WBGENE00019606

Paralogs (14): CD209 (ENSG00000090659), FCER2 (ENSG00000104921), CLEC4M (ENSG00000104938), CLEC4A (ENSG00000111729), CD207 (ENSG00000116031), CLEC10A (ENSG00000132514), ASGR1 (ENSG00000141505), CLEC4F (ENSG00000152672), CLEC4E (ENSG00000166523), CLEC4D (ENSG00000166527), CLEC4G (ENSG00000182566), CLEC17A (ENSG00000187912), CLEC4C (ENSG00000198178), CLEC6A (ENSG00000205846)

Protein

Protein identifiers

Asialoglycoprotein receptor 2 — P07307 (reviewed: P07307)

Alternative names: C-type lectin domain family 4 member H2, Hepatic lectin H2

All UniProt accessions (3): P07307, I3L1H2, Q7Z4G9

UniProt curated annotations — full annotation on UniProt →

Function. Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface.

Subunit / interactions. The functioning ligand-binding unit of this receptor is thought to be at least a dimer. Interacts with LASS2. (Microbial infection) Interacts with hepatitis E virus capsid protein ORF2.

Subcellular location. Membrane.

Tissue specificity. Expressed exclusively in hepatic parenchymal cells.

Miscellaneous. Calcium is required for ligand binding.

Isoforms (3)

UniProt ID	Names	Canonical?
P07307-1	1	yes
P07307-2	2
P07307-3	3

RefSeq proteins (5): NP_001172, NP_001188281, NP_550434, NP_550435, NP_550436 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001304	C-type_lectin-like	Domain
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR018378	C-type_lectin_CS	Conserved_site
IPR033989	CD209-like_CTLD	Domain
IPR050111	C-type_lectin/snaclec_domain	Family

Pfam: PF00059, PF03954

UniProt features (26 total): strand 6, glycosylation site 3, disulfide bond 3, topological domain 2, splice variant 2, helix 2, chain 1, sequence variant 1, transmembrane region 1, domain 1, region of interest 1, short sequence motif 1, modified residue 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8URF	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P07307-F1	79.50	0.47

Antibody-complex structures (SAbDab): 1 — 8URF

Functional residue map

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

Post-translational modifications (2): 13, 54

Disulfide bonds (3): 177–188, 205–300, 278–292

Glycosylation sites (3): 170, 305, 102

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 154 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, GNF2_GSTM1, MODULE_64, GNF2_HPN, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, COUP_01, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, GNF2_LCAT, HSIAO_LIVER_SPECIFIC_GENES, MODULE_410, GNF2_HPX, MODULE_88, MODULE_113

GO Biological Process (7): endocytosis (GO:0006897), immune response (GO:0006955), cell surface receptor signaling pathway (GO:0007166), glycoprotein metabolic process (GO:0009100), bone mineralization (GO:0030282), regulation of protein stability (GO:0031647), lipid homeostasis (GO:0055088)

GO Molecular Function (6): asialoglycoprotein receptor activity (GO:0004873), D-mannose binding (GO:0005537), pattern recognition receptor activity (GO:0038187), fucose binding (GO:0042806), protein binding (GO:0005515), carbohydrate binding (GO:0030246)

GO Cellular Component (5): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), endoplasmic reticulum quality control compartment (GO:0044322), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
monosaccharide binding	2
binding	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
immune system process	1
response to stimulus	1
signal transduction	1
protein metabolic process	1
carbohydrate derivative metabolic process	1
ossification	1
biomineral tissue development	1
regulation of biological quality	1
chemical homeostasis	1
cargo receptor activity	1
signaling receptor activity	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
endoplasmic reticulum	1
cytoplasm	1

Protein interactions and networks

STRING

791 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASGR2	ST3GAL4	Q11206	929
ASGR2	ASGR1	P07306	847
ASGR2	ST3GAL1	Q11201	772
ASGR2	CERS2	Q96G23	766
ASGR2	ATP1B2	P14415	765
ASGR2	VWF	P04275	729
ASGR2	ATP6V0C	P27449	715
ASGR2	SLC22A1	O15245	669
ASGR2	SAAL1	Q96ER3	494
ASGR2	RNASEK	Q6P5S7	460
ASGR2	SAA4	P35542	437
ASGR2	CLDN9	O95484	406
ASGR2	VLDLR	P98155	396
ASGR2	ST6GAL1	P15907	390
ASGR2	RETSAT	Q6NUM9	372

IntAct

17 interactions, top by confidence:

A	B	Type	Score
CERS2	ASGR2	psi-mi:“MI:0915”(physical association)	0.650
CERS2	ASGR2	psi-mi:“MI:0407”(direct interaction)	0.650
ASGR2	MT-CO1	psi-mi:“MI:0914”(association)	0.530
ASGR2	GLUD1	psi-mi:“MI:0915”(physical association)	0.370
ASGR2	HES1	psi-mi:“MI:0915”(physical association)	0.370
	ASGR2	psi-mi:“MI:0915”(physical association)	0.370
CD81	STX3	psi-mi:“MI:0914”(association)	0.350
CD81	CD276	psi-mi:“MI:0914”(association)	0.350
ASGR2	ACSL4	psi-mi:“MI:0914”(association)	0.350
ASGR2	SCAMP2	psi-mi:“MI:0914”(association)	0.350
NPTN	RIMOC1	psi-mi:“MI:0914”(association)	0.350
RPS7	ASGR2	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (128): TMEM214 (Affinity Capture-MS), SLC38A9 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), POM121 (Affinity Capture-MS), FKRP (Affinity Capture-MS), SENP5 (Affinity Capture-MS), EIF1AX (Affinity Capture-MS), RPL23 (Affinity Capture-MS), PARVG (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), TIMP3 (Affinity Capture-MS), SERINC1 (Affinity Capture-MS), RFT1 (Affinity Capture-MS), LMAN2L (Affinity Capture-MS), TMPPE (Affinity Capture-MS)

ESM2 similar proteins: A4KWA1, O88200, O88201, P02706, P07306, P07307, P08290, P18519, P21854, P24721, P26951, P27471, P27812, P27814, P34927, P49300, P49301, P78380, P79391, Q0VCS6, Q2HXU8, Q3LUH2, Q3SXB8, Q49BZ4, Q5NKN2, Q5NKN4, Q5RBQ8, Q61190, Q6QLQ4, Q6UX15, Q6UXB4, Q8BNX1, Q8BWY2, Q8C1T8, Q8HZR8, Q8IUN9, Q8NC01, Q8VBX4, Q8VD98, Q8WTT0

Diamond homologs: A5PMY6, A6QP79, P07307, P08290, P24721, P49259, P49260, Q2LK54, Q4V885, Q5KU26, Q8HZR8, Q8K4Q8, Q8MI05, D3ZWT9, O14594, P02706, P02707, P05451, P06734, P07306, P07897, P07898, P08661, P10716, P10758, P11226, P13608, P13611, P16112, P19999, P20693, P22897, P34927, P41317, P43137, P48304, P49300, P49301, P55066, P55067

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1857 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7102088:A:AC	donor_gain	1.0000
17:7102089:C:CC	donor_gain	1.0000
17:7106994:CCTCA:C	donor_loss	1.0000
17:7106995:CTCA:C	donor_loss	1.0000
17:7106997:CACCT:C	donor_loss	1.0000
17:7106998:ACC:A	donor_loss	1.0000
17:7106999:C:A	donor_loss	1.0000
17:7106999:CCTG:C	donor_gain	1.0000
17:7107150:GCCT:G	acceptor_loss	1.0000
17:7107151:CCTG:C	acceptor_loss	1.0000
17:7107152:C:CC	acceptor_gain	1.0000
17:7107152:C:CG	acceptor_loss	1.0000
17:7108773:TTGGG:T	donor_gain	1.0000
17:7102082:CCACT:C	donor_loss	0.9900
17:7102083:CACTT:C	donor_loss	0.9900
17:7102084:ACTTA:A	donor_loss	0.9900
17:7102085:CTTAC:C	donor_loss	0.9900
17:7102086:TTACT:T	donor_loss	0.9900
17:7102087:T:TG	donor_loss	0.9900
17:7102088:ACTT:A	donor_loss	0.9900
17:7102089:C:CT	donor_loss	0.9900
17:7102194:TTT:T	acceptor_gain	0.9900
17:7107023:C:CT	donor_gain	0.9900
17:7107024:C:CT	donor_gain	0.9900
17:7107148:GAGC:G	acceptor_gain	0.9900
17:7107150:GC:G	acceptor_gain	0.9900
17:7107151:CC:C	acceptor_gain	0.9900
17:7107225:CCCTA:C	donor_loss	0.9900
17:7107226:CCTAC:C	donor_loss	0.9900
17:7107227:CTA:C	donor_loss	0.9900

AlphaMissense

2044 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:7101734:C:A	W259C	0.996
17:7101734:C:G	W259C	0.996
17:7102122:C:A	W246C	0.996
17:7102122:C:G	W246C	0.996
17:7101650:C:A	W287C	0.995
17:7101650:C:G	W287C	0.995
17:7107120:C:A	W181C	0.993
17:7107120:C:G	W181C	0.993
17:7107049:C:G	C205S	0.991
17:7107050:A:T	C205S	0.991
17:7102124:A:G	W246R	0.990
17:7102124:A:T	W246R	0.990
17:7101652:A:G	W287R	0.989
17:7101652:A:T	W287R	0.989
17:7102158:C:A	W234C	0.989
17:7102158:C:G	W234C	0.989
17:7107048:G:C	C205W	0.988
17:7107049:C:T	C205Y	0.987
17:7101612:C:G	C300S	0.986
17:7101613:A:T	C300S	0.986
17:7107069:C:A	W198C	0.985
17:7107069:C:G	W198C	0.985
17:7101617:C:A	W298C	0.984
17:7101617:C:G	W298C	0.984
17:7101678:C:G	C278S	0.982
17:7101679:A:T	C278S	0.982
17:7101736:A:G	W259R	0.980
17:7101736:A:T	W259R	0.980
17:7102128:C:A	W244C	0.980
17:7102128:C:G	W244C	0.980

dbSNP variants (sampled 300 via entrez): RS1000103337 (17:7102804 A>G), RS1000274189 (17:7115675 A>C,G), RS1000583701 (17:7115459 G>A,C), RS1000716696 (17:7111581 G>A,T), RS1000889821 (17:7106805 G>A), RS1000985445 (17:7100826 G>C), RS1001010196 (17:7116866 T>C), RS1001020287 (17:7111412 T>C), RS1001053074 (17:7106331 T>A), RS1001193782 (17:7107730 C>T), RS1001256697 (17:7106558 A>G), RS1001320600 (17:7102139 C>G,T), RS1001577867 (17:7101621 C>T), RS1001649936 (17:7105081 T>C), RS1001724586 (17:7114638 C>T)

Disease associations

OMIM: gene MIM:108361 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004721_12	Congenital heart disease (maternal effect)	2.000000e-06
GCST006614_117	Total cholesterol levels	6.000000e-22
GCST010396_32	Gut microbiota (bacterial taxa, hurdle binary method)	7.000000e-06
GCST90013406_67	Liver enzyme levels (alkaline phosphatase)	7.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0007874	gut microbiome measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	3
Cyclosporine	decreases expression	3
bisphenol A	affects expression, decreases methylation	2
Nickel	increases expression	2
propionaldehyde	decreases expression	1
deoxynivalenol	decreases expression	1
titanium dioxide	increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
nickel sulfate	decreases expression	1
K 7174	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
gardiquimod	decreases expression, decreases reaction	1
Rosiglitazone	decreases expression	1
Acetaminophen	decreases expression	1
Allergens	increases expression	1
Arsenic	affects methylation	1
Caffeine	decreases phosphorylation	1
Methapyrilene	increases methylation	1
Methotrexate	decreases expression	1
Silicon Dioxide	decreases expression	1
Triclosan	increases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	affects expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1
beta-Naphthoflavone	decreases expression	1

Clinical trials (associated diseases)

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