VASN

Summary

VASN (vasorin, HGNC:18517) is a protein-coding gene on chromosome 16p13.3, encoding Vasorin (Q6EMK4). May act as an inhibitor of TGF-beta signaling.

Enables transforming growth factor beta binding activity. Involved in negative regulation of epithelial to mesenchymal transition and negative regulation of transforming growth factor beta receptor signaling pathway. Located in cell surface and extracellular exosome.

Source: NCBI Gene 114990 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_138440

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18517
Approved symbol	VASN
Name	vasorin
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000168140
Ensembl biotype	protein_coding
OMIM	608843
Entrez	114990

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000304735, ENST00000899068, ENST00000899069, ENST00000952355

RefSeq mRNA: 1 — MANE Select: NM_138440 NM_138440

CCDS: CCDS10514

Canonical transcript exons

ENST00000304735 — 2 exons

Exon	Start	End
ENSE00001146202	4380869	4383538
ENSE00001418650	4371848	4371993

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 97.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.7163 / max 770.8726, expressed in 1541 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152460	33.8478	1541
152462	0.3273	185
152461	0.3017	154
152463	0.2396	121

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	97.88	gold quality
popliteal artery	UBERON:0002250	96.69	gold quality
tibial artery	UBERON:0007610	96.69	gold quality
aorta	UBERON:0000947	96.45	gold quality
ascending aorta	UBERON:0001496	96.23	gold quality
thoracic aorta	UBERON:0001515	96.13	gold quality
right coronary artery	UBERON:0001625	95.46	gold quality
descending thoracic aorta	UBERON:0002345	94.67	gold quality
lower esophagus mucosa	UBERON:0035834	94.09	gold quality
left coronary artery	UBERON:0001626	93.69	gold quality
mucosa of stomach	UBERON:0001199	92.93	gold quality
endocervix	UBERON:0000458	92.77	gold quality
ectocervix	UBERON:0012249	92.56	gold quality
placenta	UBERON:0001987	92.13	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.43	gold quality
uterine cervix	UBERON:0000002	91.27	gold quality
right ovary	UBERON:0002118	90.30	gold quality
metanephros cortex	UBERON:0010533	90.18	gold quality
left ovary	UBERON:0002119	90.17	gold quality
adipose tissue	UBERON:0001013	90.13	gold quality
adult mammalian kidney	UBERON:0000082	89.96	gold quality
vagina	UBERON:0000996	89.36	gold quality
skin of leg	UBERON:0001511	89.11	gold quality
omental fat pad	UBERON:0010414	88.93	gold quality
ovary	UBERON:0000992	88.92	gold quality
right lung	UBERON:0002167	88.46	gold quality
left uterine tube	UBERON:0001303	88.05	gold quality
upper lobe of left lung	UBERON:0008952	88.02	gold quality
right lobe of liver	UBERON:0001114	87.70	gold quality
right atrium auricular region	UBERON:0006631	87.64	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	48.57
E-HCAD-10	yes	18.20
E-CURD-112	yes	13.71
E-ANND-3	yes	3.66
E-MTAB-7037	no	48.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting VASN, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-3191-3P	99.45	63.94	356
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-6507-3P	99.35	67.32	1059

Literature-anchored findings (GeneRIF, showing 13)

• results suggest that down-regulation of vasorin expression contributes to neointimal formation after vascular injury and that vasorin modulates cellular responses to pathological stimuli in the vessel wall [vasorin] (PMID:15247411)
• confirmed for the first time that HepG2-derived VASN can be transferred to human umbilical vein endothelial cells (HUVECs) via receptor mediated endocytosis of exosomes, at least in part through HSPGs (PMID:26157350)
• Vasorin acts as a switch to augment Notch signaling under hypoxic conditions. (PMID:29198941)
• Expression levels of ST3Gal1 and TGFB1 were high in breast cancer tumors samples and positively correlated with each other. Shorter relapse-free survival associated with lower expression of VASN and combination of low VASN with high ST3GAL1 yielded even higher risk of recurrence. Findings illustrated a feedback regulatory loop in which TGF-beta1 upregulates ST3Gal1 to circumvent the negative impact of VASN. (PMID:30252131)
• VASN stimulates tumor progression and angiogenesis. (PMID:31215106)
• Inhibition of vascular smooth muscle cell calcification by vasorin through interference with TGFbeta1 signaling. (PMID:31505229)
• VASN promotes proliferation of prostate cancer through the YAP/TAZ axis. (PMID:32633347)
• Role of vasorin, an anti-apoptotic, anti-TGF-beta and hypoxia-induced glycoprotein in the trabecular meshwork cells and glaucoma. (PMID:35170203)
• Circ_0060077 Knockdown Alleviates High-Glucose-Induced Cell Apoptosis, Oxidative Stress, Inflammation and Fibrosis in HK-2 Cells via miR-145-5p/VASN Pathway. (PMID:35729462)
• Evidence for the expression of vasorin in the human female reproductive tissues. (PMID:37331376)
• Vasorin promotes proliferation and migration via STAT3 signaling and acts as a promising therapeutic target of hepatocellular carcinoma. (PMID:37454705)
• The Oligomeric State of Vasorin in the Plasma Membrane Measured Non-Invasively by Quantitative Fluorescence Fluctuation Spectroscopy. (PMID:38612924)
• Vasorin promotes endothelial differentiation of glioma stem cells via stimulating the transcription of VEGFR2. (PMID:38780524)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	vasna	ENSDARG00000099266
danio_rerio	vasnb	ENSDARG00000102565
mus_musculus	Vasn	ENSMUSG00000039646
rattus_norvegicus	Vasn	ENSRNOG00000004141
drosophila_melanogaster	CG42709	FBGN0261674
caenorhabditis_elegans	egg-6	WBGENE00010621

Paralogs (22): IGFALS (ENSG00000099769), TLR8 (ENSG00000101916), LRRC17 (ENSG00000128606), RXFP2 (ENSG00000133105), CD180 (ENSG00000134061), TLR4 (ENSG00000136869), TLR2 (ENSG00000137462), LRRC32 (ENSG00000137507), LRRC3 (ENSG00000160233), LRRC53 (ENSG00000162621), TLR3 (ENSG00000164342), RXFP1 (ENSG00000171509), NRROS (ENSG00000174004), TLR10 (ENSG00000174123), TLR1 (ENSG00000174125), TLR6 (ENSG00000174130), LRRC3B (ENSG00000179796), TSKU (ENSG00000182704), TLR5 (ENSG00000187554), TLR7 (ENSG00000196664), LRIT2 (ENSG00000204033), LRRC3C (ENSG00000204913)

Protein

Protein identifiers

Vasorin — Q6EMK4 (reviewed: Q6EMK4)

Alternative names: Protein slit-like 2

All UniProt accessions (1): Q6EMK4

UniProt curated annotations — full annotation on UniProt →

Function. May act as an inhibitor of TGF-beta signaling.

Subunit / interactions. Interacts with TGFB1, TGFB2 and TGFB3.

Subcellular location. Membrane. Secreted.

Tissue specificity. Expressed at highest levels in aorta, at intermediate levels in kidney and placenta and at lowest levels in brain, heart, liver, lung and skeletal muscle. Within the aorta, the strongest expression is found in the tunica media of the proximal ascending aorta, the descending thoracic aorta, the abdominal aorta and the coronary arteries. Within the kidney, expression is found in the interstitial cells.

Post-translational modifications. N-glycosylated. N-glycan heterogeneity at Asn-117: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (major), Hex6HexNAc5 (minor) and dHex1Hex6HexNAc5 (minor).

RefSeq proteins (1): NP_612449* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000372	LRRNT	Domain
IPR000483	Cys-rich_flank_reg_C	Domain
IPR000742	EGF	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR050541	LRR_TM_domain-containing	Family

Pfam: PF00008, PF13855

UniProt features (33 total): repeat 10, glycosylation site 5, domain 4, disulfide bond 3, topological domain 2, compositionally biased region 2, sequence conflict 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6EMK4-F1	74.75	0.38

Functional residue map

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

Disulfide bonds (3): 409–420, 414–430, 432–441

Glycosylation sites (5): 101, 117, 273, 500, 528

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 164 (showing top): AGGAAGC_MIR5163P, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, HNF3ALPHA_Q6, GOCC_VACUOLAR_MEMBRANE, PEREZ_TP63_TARGETS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOCC_CELL_SURFACE, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, RACCACAR_AML_Q6, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, FOXO4_01, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, EVI1_05, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS

GO Biological Process (4): negative regulation of epithelial to mesenchymal transition (GO:0010719), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), cellular response to hypoxia (GO:0071456), cellular response to redox state (GO:0071461)

GO Molecular Function (4): signaling receptor activity (GO:0038023), cadherin binding (GO:0045296), transforming growth factor beta binding (GO:0050431), protein binding (GO:0005515)

GO Cellular Component (8): obsolete extracellular space (GO:0005615), mitochondrion (GO:0005739), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), cell surface (GO:0009986), extracellular exosome (GO:0070062), extracellular region (GO:0005576), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
negative regulation of cell differentiation	1
negative regulation of multicellular organismal process	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
response to hypoxia	1
cellular response to stress	1
cellular response to decreased oxygen levels	1
response to redox state	1
molecular transducer activity	1
cell adhesion molecule binding	1
growth factor binding	1
cytokine binding	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
extracellular vesicle	1

Protein interactions and networks

STRING

1622 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VASN	TGFB3	P10600	757
VASN	TGFB2	P08112	748
VASN	TGFB1	P01137	665
VASN	ROBO4	Q8WZ75	515
VASN	NOTCH1	P46531	474
VASN	EGF	P01133	465
VASN	FN1	P02751	461
VASN	PRDM10	Q9NQV6	425
VASN	NHLRC3	Q5JS37	392
VASN	EP300	Q09472	388
VASN	CP	P00450	381
VASN	PRR9	Q5T870	378
VASN	SEC14L5	O43304	328
VASN	ITGA2	P17301	323
VASN	YIPF3	Q9GZM5	312

IntAct

203 interactions, top by confidence:

A	B	Type	Score
VASN	JAG2	psi-mi:“MI:0407”(direct interaction)	0.700
INSRR	INSR	psi-mi:“MI:0914”(association)	0.650
JAG1	VASN	psi-mi:“MI:0407”(direct interaction)	0.600
RNF31	VASN	psi-mi:“MI:0915”(physical association)	0.560
VASN	RNF31	psi-mi:“MI:0915”(physical association)	0.560
ZNF837	VASN	psi-mi:“MI:0915”(physical association)	0.560
ZNF417	VASN	psi-mi:“MI:0915”(physical association)	0.560
CELF5	VASN	psi-mi:“MI:0915”(physical association)	0.560
AQP3	VASN	psi-mi:“MI:0915”(physical association)	0.560
VASN	ZNF837	psi-mi:“MI:0915”(physical association)	0.560
VASN	ZNF417	psi-mi:“MI:0915”(physical association)	0.560
VASN	KRTAP4-11	psi-mi:“MI:0915”(physical association)	0.560
VASN	CELF5	psi-mi:“MI:0915”(physical association)	0.560
VASN	KRTAP2-4	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-2	VASN	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-3	VASN	psi-mi:“MI:0915”(physical association)	0.560
RGS20	VASN	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	VASN	psi-mi:“MI:0915”(physical association)	0.560
VASN	KRTAP9-3	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	VASN	psi-mi:“MI:0915”(physical association)	0.560
KRTAP4-1	VASN	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-6	VASN	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-3	VASN	psi-mi:“MI:0915”(physical association)	0.560
KRT31	VASN	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (195): VASN (Two-hybrid), VASN (Proximity Label-MS), JAG2 (Affinity Capture-MS), ABCD1 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), THADA (Affinity Capture-MS), NOTCH2 (Affinity Capture-MS), XPO4 (Affinity Capture-MS), TMX4 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), STK11IP (Affinity Capture-MS), DIAPH3 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), XPO7 (Affinity Capture-MS)

ESM2 similar proteins: A1A4H9, A4IFA6, A6NDA9, E7FE13, G3XA59, O08644, O08742, O08770, O14498, O15197, P0C0K6, P0C0K7, P35590, P40197, P59383, Q06805, Q06806, Q14392, Q149C3, Q3ZBI5, Q5JZY3, Q5NVQ6, Q5R6B1, Q5RF01, Q5RKR3, Q6EMK4, Q6GU68, Q6P7C4, Q6PFC5, Q6QMY6, Q6UXK2, Q6UY18, Q80ZD5, Q86UE6, Q86WK7, Q86YC3, Q8BGX3, Q8BYG9, Q8C2S7, Q8CBR6

Diamond homologs: A3KNN3, A4IIW9, A6H789, A6H793, A6NJW4, A8WHP9, E9Q7T7, O46379, O75093, O75094, O88280, O94769, P21793, P24014, P51884, P51885, P51886, P59034, P59035, P83503, Q05443, Q3MHH9, Q5FW85, Q5M7S9, Q65YW8, Q6EMK4, Q6NUI6, Q6R5N8, Q8R5M3, Q8VCH9, Q96PB8, Q9BY71, Q9GKQ6, Q9GZU5, Q9TTE2, Q9WVB4, Q9WVC1, Q9Z0L0, E7FE13, F1MLX5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
NOTCH2 Activation and Transmission of Signal to the Nucleus	5	33.3×	3e-05
Keratinization	27	22.8×	4e-28
Formation of the cornified envelope	7	9.3×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	6	22.6×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

375 predictions. Top by Δscore:

Variant	Effect	Δscore
16:4371989:TCCCG:T	donor_gain	1.0000
16:4371991:CCG:C	donor_gain	1.0000
16:4371991:CCGGT:C	donor_loss	1.0000
16:4371992:CG:C	donor_gain	1.0000
16:4371993:GG:G	donor_gain	1.0000
16:4371994:G:GG	donor_gain	1.0000
16:4371994:GTGA:G	donor_loss	1.0000
16:4371995:T:A	donor_loss	1.0000
16:4371990:CCCG:C	donor_gain	0.9900
16:4380860:T:TA	acceptor_gain	0.9900
16:4380867:A:AG	acceptor_gain	0.9900
16:4380867:AG:A	acceptor_gain	0.9900
16:4380868:G:GA	acceptor_loss	0.9900
16:4380868:G:GG	acceptor_gain	0.9900
16:4380868:GG:G	acceptor_gain	0.9900
16:4371938:A:T	donor_gain	0.9800
16:4380867:AGG:A	acceptor_gain	0.9700
16:4380868:GGG:G	acceptor_gain	0.9700
16:4380868:GGGAC:G	acceptor_gain	0.9300
16:4373395:TGC:T	donor_gain	0.9200
16:4373397:C:CT	donor_gain	0.9100
16:4373398:T:TT	donor_gain	0.9100
16:4380357:TG:T	donor_gain	0.8900
16:4380868:GGGA:G	acceptor_gain	0.8700
16:4380849:T:TA	acceptor_gain	0.8500
16:4380866:CAGGG:C	acceptor_gain	0.7900
16:4380867:AGGGA:A	acceptor_gain	0.7900
16:4371937:G:GT	donor_gain	0.7800
16:4372279:T:TA	donor_gain	0.7700
16:4380358:GA:G	donor_gain	0.7700

AlphaMissense

4232 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:4381859:T:A	C328S	0.998
16:4381860:G:C	C328S	0.998
16:4381866:T:G	F330C	0.997
16:4381859:T:C	C328R	0.996
16:4381860:G:A	C328Y	0.995
16:4381861:C:G	C328W	0.995
16:4382442:T:A	V522D	0.995
16:4381197:T:C	L107P	0.994
16:4381284:T:C	I136T	0.994
16:4381782:G:A	C302Y	0.994
16:4381783:C:G	C302W	0.994
16:4381191:T:C	L105P	0.993
16:4381279:C:A	N134K	0.993
16:4381279:C:G	N134K	0.993
16:4381771:C:A	N298K	0.993
16:4381771:C:G	N298K	0.993
16:4381865:T:C	F330L	0.993
16:4381867:C:A	F330L	0.993
16:4381867:C:G	F330L	0.993
16:4382468:T:G	Y531D	0.993
16:4381135:C:A	N86K	0.992
16:4381135:C:G	N86K	0.992
16:4381260:G:C	R128P	0.992
16:4381860:G:T	C328F	0.992
16:4381922:T:A	C349S	0.992
16:4381923:G:C	C349S	0.992
16:4381134:A:T	N86I	0.991
16:4381781:T:A	C302S	0.991
16:4381781:T:C	C302R	0.991
16:4381782:G:C	C302S	0.991

dbSNP variants (sampled 300 via entrez): RS1000120584 (16:4380768 T>C), RS1000293207 (16:4383129 G>A,T), RS1000535008 (16:4372891 G>C), RS1000604888 (16:4371838 C>A), RS1000948203 (16:4372681 G>A), RS1001189725 (16:4374566 G>A), RS1001206254 (16:4374409 G>A,C), RS1001526605 (16:4375842 A>G,T), RS1001600891 (16:4383169 G>A), RS1001714127 (16:4371385 T>C), RS1001787594 (16:4383800 C>T), RS1001813217 (16:4380272 C>T), RS1001863497 (16:4376975 C>T), RS1001873282 (16:4376735 TC>T), RS1002103529 (16:4372007 G>A,C)

Disease associations

OMIM: gene MIM:608843 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST006956_6	Erectile dysfunction	2.000000e-06
GCST007483_4	Waist-to-hip ratio adjusted for BMI (additive genetic model)	2.000000e-09
GCST007487_55	Waist-to-hip ratio adjusted for BMI (additive genetic model)	1.000000e-08
GCST007500_44	Waist-to-hip ratio adjusted for BMI (additive genetic model)	6.000000e-07
GCST007502_29	Waist-to-hip ratio adjusted for BMI (additive genetic model)	4.000000e-06
GCST012227_376	Hip circumference adjusted for BMI	4.000000e-12
GCST90020024_737	A body shape index	4.000000e-10
GCST90020025_140	Waist-to-hip ratio adjusted for BMI	2.000000e-08
GCST90020025_149	Waist-to-hip ratio adjusted for BMI	5.000000e-16
GCST90020027_652	Waist-hip index	1.000000e-15
GCST90020027_654	Waist-hip index	3.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3810818	CORO7, VASN	3	0.00	1	methylphenidate

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
dinophysistoxin 1	increases expression	2
(+)-JQ1 compound	increases expression	2
Acetaminophen	increases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	2
Estradiol	affects expression, increases reaction, increases expression	2
Polystyrenes	affects cotreatment, decreases expression, increases abundance	2
Quercetin	decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
aristolochic acid I	increases expression	1
tungsten carbide	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
deoxynivalenol	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	decreases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	decreases expression	1
cupric chloride	decreases expression	1
hydroquinone	increases expression	1
nivalenol	decreases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
beta-methylcholine	affects expression	1
homosalate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
chloropicrin	increases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
bisphenol S	decreases expression	1
incobotulinumtoxinA	increases expression	1

Clinical trials (associated diseases)

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