TM6SF2

Summary

TM6SF2 (transmembrane 6 superfamily member 2, HGNC:11861) is a protein-coding gene on chromosome 19p13.11, encoding Transmembrane 6 superfamily member 2 (Q9BZW4). Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content.

Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane.

Source: NCBI Gene 53345 — RefSeq curated summary.

At a glance

• GWAS associations: 48
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_001001524

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11861
Approved symbol	TM6SF2
Name	transmembrane 6 superfamily member 2
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	Lpr4
Ensembl gene	ENSG00000213996
Ensembl biotype	protein_coding
OMIM	606563
Entrez	53345

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000389363, ENST00000431465, ENST00000586107, ENST00000590431, ENST00000591001, ENST00000864048, ENST00000864049, ENST00000864050, ENST00000864051, ENST00000864052, ENST00000864053

RefSeq mRNA: 1 — MANE Select: NM_001001524 NM_001001524

CCDS: CCDS42528

Canonical transcript exons

ENST00000389363 — 10 exons

Exon	Start	End
ENSE00000952015	19268630	19268754
ENSE00001347889	19270345	19270442
ENSE00002924459	19273121	19273301
ENSE00003484224	19264366	19264873
ENSE00003519098	19269687	19269769
ENSE00003591169	19267986	19268087
ENSE00003591404	19270173	19270276
ENSE00003644092	19271022	19271125
ENSE00003652991	19267621	19267713
ENSE00003655109	19266490	19266609

Expression profiles

Bgee: expression breadth ubiquitous, 151 present calls, max score 97.90.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9002 / max 280.0937, expressed in 295 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180138	0.8272	268
180136	0.0557	18
180137	0.0173	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	97.90	gold quality
jejunal mucosa	UBERON:0000399	94.74	gold quality
duodenum	UBERON:0002114	94.72	gold quality
right lobe of liver	UBERON:0001114	94.35	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.13	gold quality
small intestine	UBERON:0002108	89.25	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.51	gold quality
liver	UBERON:0002107	87.73	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.22	gold quality
mucosa of transverse colon	UBERON:0004991	81.75	gold quality
jejunum	UBERON:0002115	79.32	gold quality
buccal mucosa cell	CL:0002336	78.51	silver quality
tendon of biceps brachii	UBERON:0008188	74.38	gold quality
tibialis anterior	UBERON:0001385	73.41	silver quality
kidney epithelium	UBERON:0004819	72.88	gold quality
stromal cell of endometrium	CL:0002255	72.19	gold quality
adult mammalian kidney	UBERON:0000082	70.91	gold quality
transverse colon	UBERON:0001157	70.37	gold quality
intestine	UBERON:0000160	70.24	gold quality
rectum	UBERON:0001052	70.04	gold quality
ventricular zone	UBERON:0003053	70.02	gold quality
ganglionic eminence	UBERON:0004023	69.95	gold quality
epithelial cell of pancreas	CL:0000083	69.30	gold quality
endocervix	UBERON:0000458	68.56	gold quality
pancreatic ductal cell	CL:0002079	67.53	silver quality
deltoid	UBERON:0001476	67.12	gold quality
parotid gland	UBERON:0001831	66.49	gold quality
right coronary artery	UBERON:0001625	66.26	gold quality
kidney	UBERON:0002113	66.21	gold quality
cartilage tissue	UBERON:0002418	65.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.24

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 40)

• TM6SF2 activity is required for normal very-low-density lipoprotein secretion; impaired TM6SF2 function causally contributes to Nonalcoholic fatty liver disease. (PMID:24531328)
• TM6SF2 variant (Glu167Lys) influences total cholesterol levels and is associated with myocardial infarction. (PMID:24633158)
• The TM6SF2 variant is rare in the Chinese population with non-alcoholic fatty liver disease. (PMID:24824280)
• TM6SF2 is a regulator of liver fat metabolism with opposing effects on the secretion of TRLs and hepatic lipid droplet content (PMID:24927523)
• TM6SF2 rs58542926 is associated with hepatic fibrosis progression in patients with non-alcoholic fatty liver disease. (PMID:24978903)
• The non-synonymous TM6SF2 SNP coding Glu167Lys is associated not only with presence of Non-Alcoholic Fatty Liver Disease (NAFLD) but also with the clinically relevant histological endpoint of advanced hepatic fibrosis/cirrhosis. (PMID:24978903)
• Carriers of the TM6SF2 E167K variant are more susceptible to progressive nonalcoholic steatohepatitis, but are protected against cardiovascular disease. (PMID:25251399)
• TM6SF2 expression is significantly decreased in the liver of patients with NAFLD, and rs58542926 variant might regulate liver transcript and protein expression in an allele-specific manner. (PMID:25302781)
• rs58542926 is a low-frequency variant with a modest effect on nonalcoholic fatty liver (PMID:25302781)
• the E167K variant in TM6SF2 is associated with a distinct subtype of NAFLD, characterized by preserved insulin sensitivity with regard to lipolysis, hepatic glucose production and lack of hypertriglyceridemia despite a clearly increased liver fat content (PMID:25457209)
• TM6SF2 polymorphism is an independent predictor of liver steatosis in patients with chronic hepatitis C. (PMID:25581573)
• rs58542926 is associated with nonalcoholic fatty liver disease and metabolic syndrome. (PMID:25639710)
• in a Han Chinese population cohort, the TM6SF2 E167K allele is significantly associated with non-alcoholic fatty liver disease (PMID:25687425)
• E167K variant impacts on steatosis severity and is associated with liver damage and fibrosis in patients with chronic hepatitis C (PMID:25820484)
• Although the TMS6SF2 E167K variant predisposes obese children to NAFLD, there is an association between this variant and lower levels of cardiovasc risk factors: differential effects of TMS6SF2 E167K variant on liver and heart health. (PMID:25893821)
• TM6SF2 rs58542926 is not associated with steatosis and fibrosis in large cohort of patients with genotype 1 Chronic hepatitis C. (PMID:26259026)
• Treating liver fat and serum triglyceride levels in NAFLD, effects of PNPLA3 and TM6SF2 genotypes: effect of Omacor administration. (PMID:26272871)
• Although the TM6SF2-rs58542926 variant confers protection against cardiovascular disease at the expense of an increased risk of nonalcoholic fatty liver, it does not explain the link between these two complex diseases. (PMID:26331730)
• TM6SF2-rs58542926 has a dual and opposite role in protecting against cardiovascular disease and conferring risk for nonalcoholic fatty liver. (PMID:26331730)
• The rs58542926 SNP in the TM6SF2 gene is associated with pediatric nonalcoholic fatty liver disease but may confer protection against cardiovascular risk (PMID:26457389)
• Variants in the TM6SF2 gene is associated with alcohol-related cirrhosis. (PMID:26482880)
• transmembrane 6 superfamily 2 C/T or T/T variants in conjunction with patatin-like phospho-lipase domain-containing protein 3 G/G variants may be potential genetic risk factors for developing HCC in alcohol-related cirrhosis. (PMID:26493626)
• In summary we found the TM6SF2 167K variant is associated with a higher prevalence of hepatic steatosis. (PMID:26520056)
• The investigator looked for but could not find any affect of TM6SF2 genotype on histological features, including stage of fibrosis in NAFLD Japanese patients. (PMID:26610348)
• The TM6SF2 p.E167K variant is associated with non-alcoholic fatty liver disease. (PMID:26745555)
• carriers of the 167K allele have higher plasma alanine aminotransferase but lower plasma triglycerides and total and LDL cholesterol than the noncarriers already in childhood (PMID:26756786)
• Expression of TM6SF2 promoted cholesterol biosynthesis in hepatocytes. (PMID:26774178)
• The TM6SF2 E167K substitution promotes steatosis and lipid abnormalities in part by altering TM6SF2 and microsomal triglyceride transfer protein expression and differentially impacts chronic hepatitis C and chronic hepatitis B viral load. (PMID:26822232)
• This study investigates the association between TM6SF2 rs58542926 with health services utilization in a general population. TM6SF2 rs58542926 was associated with the number of outpatient visits, hospitalization, and inpatient days. (PMID:26847197)
• Study explored the influence of rs58542926, a missense variant of TM6SF2 involved in the regulation of lipid metabolic process, on the concentration of aminotransferases in the circulating compartment. Interestingly, the results found that the rs58542926 variant exerts a moderate but statistically significant effect on circulating level of both ALT and AST in patients with NAFLD, but not in chronic viral hepatitis. (PMID:27278285)
• Children carrying the T allele of the MBOAT7 polymorphism had higher plasma alanine aminotransferase than the noncarriers; children with the MBOAT7, PNPLA3, and TM6SF2 variants had the highest plasma ALT (PMID:27411039)
• In HIV/HCV coinfection the TM6SF2 E167K variant is an independent predictor of severe fibrosis, but appears to be independently associated with severe steatosis only for patients with a non-3 HCV genotype (PMID:27784963)
• Fibrosis stages were affected by the PNPLA3 (P = 0.042) and MBOAT7 (P = 0.021) but not by the TM6SF2 polymorphism (P > 0.05). The PNPLA3, TM6SF2, and MBOAT7 variants are associated with increased liver injury. The TM6SF2 variant seems to modulate predominantly hepatic fat accumulation, whereas the MBOAT7 polymorphism is linked to fibrosis. The PNPLA3 polymorphism confers risk of both increased steatosis and fibrosis (PMID:27836992)
• hepatic synthesis of polyunsaturated fatty acid containing lipids is impaired in TM6SF2 E167K gene variant carriers. (PMID:28235613)
• the TM6SF2 C>T polymorphism affects nutrient oxidation, glucose homeostasis, and postprandial lipoprotein, adipokine, and GIP responses to fat ingestion independently of fasting values (PMID:28242789)
• PNPLA3 and TM6SF2 are common genetic variants among nonalcoholic fatty liver disease patients; both PNPLA3 I148M and TM6SF2 E167K genotypes are associated with increases in the size of low density lipoprotein and high density lipoprotein particles, phenotypes considered atheroprotective (PMID:28362682)
• Data suggest that a polymorphism in TM6SF2 (E167K) affects cell cycle of hepatocellular carcinoma cell line and is involved in gene expression regulation. (PMID:28407767)
• The TM6SF2 knock-down cells secreted lipoprotein-like particles. (PMID:28434889)
• TM6SF2 association with adiposity and the risk of the nonalcoholic fatty liver disease (PMID:28436986)
• These data demonstrate that rs58542926 (E167K) and rs187429064 (L156P) are functional variants and suggest that they influence metabolic traits through altered TM6SF2 protein stability. (PMID:28449094)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tm6sf2	ENSMUSG00000036151
rattus_norvegicus	Tm6sf2	ENSRNOG00000042237

Paralogs (1): TM6SF1 (ENSG00000136404)

Protein

Protein identifiers

Transmembrane 6 superfamily member 2 — Q9BZW4 (reviewed: Q9BZW4)

All UniProt accessions (1): Q9BZW4

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. May function as sterol isomerase.

Subcellular location. Endoplasmic reticulum membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.

Tissue specificity. Substantial expression in liver and intestine, whereas all other tissues analyzed show low levels.

Similarity. Belongs to the TM6SF family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BZW4-1	1	yes
Q9BZW4-2	2

RefSeq proteins (1): NP_001001524* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033118	EXPERA	Domain
IPR047195	TM6SF1-like	Family
IPR059044	TM_Tm6sf1/2	Domain

Pfam: PF05241, PF26083

UniProt features (14 total): transmembrane region 9, domain 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZW4-F1	91.03	0.77

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 57 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_LIPID_HOMEOSTASIS, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, SABATES_COLORECTAL_ADENOMA_DN, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOBP_HOMEOSTATIC_PROCESS, GOBP_CHEMICAL_HOMEOSTASIS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT_MEMBRANE, GOCC_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT, chr19p13, GOCC_ORGANELLE_SUBCOMPARTMENT, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED

GO Biological Process (3): lipid metabolic process (GO:0006629), regulation of lipid metabolic process (GO:0019216), lipid homeostasis (GO:0055088)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	1
lipid metabolic process	1
regulation of primary metabolic process	1
chemical homeostasis	1
protein binding	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum-Golgi intermediate compartment	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

832 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TM6SF2	HAPLN4	Q86UW8	967
TM6SF2	PNPLA3	Q9NST1	916
TM6SF2	MBOAT7	Q96N66	909
TM6SF2	HSD17B13	Q7Z5P4	880
TM6SF2	NCAN	O14594	743
TM6SF2	TMC4	Q7Z404	728
TM6SF2	LYPLAL1	Q5VWZ2	722
TM6SF2	GCKR	Q14397	695
TM6SF2	PPP1R3B	Q86XI6	695
TM6SF2	APOB	P04114	596
TM6SF2	FDFT1	P37268	589
TM6SF2	GPT	P24298	583
TM6SF2	MTARC1	Q5VT66	582
TM6SF2	CILP2	Q8IUL8	581
TM6SF2	MTTP	P55157	578

IntAct

35 interactions, top by confidence:

A	B	Type	Score
TM6SF2	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
BCL2L13	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
TMEM237	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
SSMEM1	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
FAM209A	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
MUC1	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
ARL13B	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
TM6SF2	SCN3B	psi-mi:“MI:0915”(physical association)	0.560
PVR	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
KCNJ6	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
TM6SF2	GNAZ	psi-mi:“MI:0915”(physical association)	0.400
TM6SF2	TM6SF2	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	BCL2L13	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	TMEM237	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	HIBADH	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	ARL13B	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	SCN3B	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	SSMEM1	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	FAM209A	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	MUC1	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	PVR	psi-mi:“MI:0915”(physical association)	0.000
TM6SF2	KCNJ6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), TM6SF2 (Two-hybrid), GNAZ (Affinity Capture-MS)

ESM2 similar proteins: A0A8C2M425, A1L1J9, B0BNG2, O60725, O75908, O77759, O88269, O88908, O95255, Q0P4J9, Q290J8, Q3T1L5, Q3TAE8, Q3UV71, Q499P8, Q49LS7, Q4R4E1, Q4VV71, Q5F380, Q5KR61, Q5R8F6, Q5RAH7, Q5RKL5, Q6AZ83, Q6NVG1, Q7SXZ1, Q7T310, Q7TPN3, Q7TQM4, Q86VD9, Q8AVI9, Q8BTP0, Q8C0T0, Q8C3X8, Q8CI59, Q8IUR5, Q8K2A8, Q8L638, Q8R1J1, Q8R4P9

Diamond homologs: A6QL84, B0BNG2, P58749, Q0V982, Q5RBJ7, Q6DCP8, Q8R1J1, Q9BZW4, Q9BZW5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1958 predictions. Top by Δscore:

Variant	Effect	Δscore
19:19266487:CACCT:C	donor_loss	1.0000
19:19266488:A:AT	donor_loss	1.0000
19:19266489:C:A	donor_loss	1.0000
19:19266573:C:CT	acceptor_gain	1.0000
19:19267981:CTCA:C	donor_loss	1.0000
19:19267982:TCA:T	donor_loss	1.0000
19:19267983:CA:C	donor_loss	1.0000
19:19267984:A:AC	donor_gain	1.0000
19:19267985:C:CC	donor_gain	1.0000
19:19267985:C:CT	donor_loss	1.0000
19:19267985:CCAGG:C	donor_gain	1.0000
19:19268085:CAC:C	acceptor_gain	1.0000
19:19268088:C:A	acceptor_loss	1.0000
19:19268088:C:CC	acceptor_gain	1.0000
19:19268094:C:CT	acceptor_gain	1.0000
19:19268094:C:T	acceptor_gain	1.0000
19:19268095:A:T	acceptor_gain	1.0000
19:19268759:CATGG:C	acceptor_gain	1.0000
19:19269885:C:T	acceptor_gain	1.0000
19:19269885:CAGGA:C	acceptor_gain	1.0000
19:19269886:A:T	acceptor_gain	1.0000
19:19270165:T:TA	donor_gain	1.0000
19:19270346:T:TA	donor_gain	1.0000
19:19271121:GGGGG:G	acceptor_gain	1.0000
19:19271126:C:CC	acceptor_gain	1.0000
19:19273098:C:CA	donor_gain	1.0000
19:19273116:CG:C	donor_gain	1.0000
19:19273116:CGCA:C	donor_gain	1.0000
19:19273117:GCAC:G	donor_loss	1.0000
19:19273119:A:AC	donor_gain	1.0000

AlphaMissense

2436 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:19270231:A:G	W115R	0.981
19:19270231:A:T	W115R	0.981
19:19267652:A:G	L258P	0.980
19:19267991:C:G	G236R	0.980
19:19267993:C:G	R235P	0.978
19:19267635:A:C	Y264D	0.977
19:19267661:T:A	E255V	0.976
19:19264873:C:G	A309P	0.971
19:19264778:A:C	N340K	0.970
19:19264778:A:T	N340K	0.970
19:19268754:C:A	G162V	0.969
19:19269741:A:G	W144R	0.968
19:19269741:A:T	W144R	0.968
19:19267990:C:T	G236D	0.967
19:19269687:C:G	G162R	0.967
19:19269735:C:G	G146R	0.967
19:19264851:G:T	A316D	0.966
19:19269734:C:T	G146D	0.966
19:19270229:C:A	W115C	0.965
19:19270229:C:G	W115C	0.965
19:19266506:G:T	A303D	0.962
19:19266605:A:G	L270P	0.962
19:19269698:C:T	G158E	0.962
19:19264762:C:G	G346R	0.961
19:19264826:G:C	F324L	0.961
19:19264826:G:T	F324L	0.961
19:19264828:A:G	F324L	0.961
19:19264865:G:C	F311L	0.961
19:19264865:G:T	F311L	0.961
19:19264867:A:G	F311L	0.961

dbSNP variants (sampled 300 via entrez): RS1000474557 (19:19272694 T>G), RS1000600182 (19:19266886 A>G), RS1001071362 (19:19271051 C>T), RS1001528360 (19:19272303 G>A), RS1001608650 (19:19264219 G>A), RS1001747555 (19:19272547 G>A), RS1001951522 (19:19275256 G>A), RS1002101646 (19:19268942 G>A), RS1002170024 (19:19265909 A>G), RS1002299249 (19:19274771 C>G), RS1003532908 (19:19269316 G>A), RS1003725150 (19:19270014 T>C), RS1003750801 (19:19269721 C>G,T), RS1004242162 (19:19264446 T>C), RS1004271617 (19:19264108 T>A,C)

Disease associations

OMIM: gene MIM:606563 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

48 associations (top):

Study	Trait	p-value
GCST002149_11	Schizophrenia	3.000000e-09
GCST002539_89	Schizophrenia	4.000000e-10
GCST003153_2	Cirrhosis (alcohol related)	8.000000e-10
GCST005308_7	Nonalcoholic fatty liver disease	2.000000e-08
GCST006003_24	Triglyceride levels	9.000000e-14
GCST006803_88	Schizophrenia	7.000000e-12
GCST007294_16	Body fat distribution (trunk fat ratio)	2.000000e-07
GCST007294_35	Body fat distribution (trunk fat ratio)	1.000000e-10
GCST007295_166	Body fat distribution (leg fat ratio)	2.000000e-11
GCST007295_22	Body fat distribution (leg fat ratio)	3.000000e-07
GCST007515_22	Type 2 diabetes	5.000000e-12
GCST007516_30	Type 2 diabetes (adjusted for BMI)	3.000000e-15
GCST007517_23	Type 2 diabetes	2.000000e-10
GCST007518_30	Type 2 diabetes (adjusted for BMI)	1.000000e-12
GCST007931_53	Medication use (HMG CoA reductase inhibitors)	2.000000e-09
GCST007931_88	Medication use (HMG CoA reductase inhibitors)	2.000000e-31
GCST008103_10	Bipolar disorder	1.000000e-09
GCST008115_2	Bipolar I disorder	3.000000e-09
GCST008116_4	Bipolar II disorder	4.000000e-06
GCST009167_3	Vitamin levels	1.000000e-08
GCST009379_233	Type 2 diabetes	3.000000e-15
GCST009379_284	Type 2 diabetes	5.000000e-06
GCST010083_100	Hemoglobin levels	2.000000e-10
GCST010096_2	Nonalcoholic fatty liver disease	6.000000e-08
GCST010173_7	Triglyceride levels	4.000000e-95
GCST010204_50	Low density lipoprotein cholesterol levels	3.000000e-186
GCST010244_12	Triglyceride levels	1.000000e-162
GCST010417_2	Liver fat content (MRI proton density fat fraction measure)	6.000000e-37
GCST010418_4	Liver fibrosis and steatohepatitis severity (MRI cT1 measure)	1.000000e-08
GCST010703_335	Brain morphology (MOSTest)	3.000000e-10

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004341	body fat distribution
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0009963	bipolar I disorder
EFO:0009964	bipolar II disorder
EFO:0004729	vitamin measurement
EFO:0007898	alpha-tocopherol measurement
EFO:0004509	hemoglobin measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0006845	liver disease biomarker
EFO:0010821	liver fat measurement
EFO:0004346	neuroimaging measurement
EFO:0004348	hematocrit
EFO:0004736	aspartate aminotransferase measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0007788	BMI-adjusted waist-hip ratio

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
rs58542926	TM6SF2		0.00	0

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects response to substance, decreases expression, affects methylation, increases methylation	4
methyleugenol	decreases expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
tebuconazole	decreases expression	1
MT19c compound	decreases expression	1
Rosiglitazone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Estradiol	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Triclosan	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases expression	1
Aflatoxin B1	affects expression	1
Gold Compounds	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Okadaic Acid	decreases expression	1
beta-Naphthoflavone	increases expression	1

Clinical trials (associated diseases)

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