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HNF4G

gene
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Also known as NR2A2

Summary

HNF4G (hepatocyte nuclear factor 4 gamma, HGNC:5026) is a protein-coding gene on chromosome 8q21.13, encoding Hepatocyte nuclear factor 4-gamma (Q14541). Transcription factor.

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in several cellular components, including intercellular bridge; mitotic spindle; and nucleoplasm.

Source: NCBI Gene 3174 — RefSeq curated summary.

At a glance

  • GWAS associations: 55
  • Clinical variants (ClinVar): 58 total
  • Druggable target: yes
  • Transcription factor: yes — 13 downstream targets (CollecTRI)
  • MANE Select transcript: NM_004133

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:5026
Approved symbolHNF4G
Namehepatocyte nuclear factor 4 gamma
Location8q21.13
Locus typegene with protein product
StatusApproved
AliasesNR2A2
Ensembl geneENSG00000164749
Ensembl biotypeprotein_coding
OMIM605966
Entrez3174

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000354370, ENST00000396419, ENST00000396423, ENST00000494318, ENST00000674002

RefSeq mRNA: 2 — MANE Select: NM_004133 NM_001330561, NM_004133

CCDS: CCDS6220, CCDS83303

Canonical transcript exons

ENST00000396423 — 10 exons

ExonStartEnd
ENSE000015248877556397575566834
ENSE000016162737555598275556069
ENSE000016219077555304275553197
ENSE000016507517556034475560466
ENSE000016741477555880175559037
ENSE000016795087555851875558670
ENSE000017412347553986975540080
ENSE000034815507554758775547681
ENSE000035096027554381175543979
ENSE000035441347555138875551494

Expression profiles

Bgee: expression breadth ubiquitous, 145 present calls, max score 99.00.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8868 / max 619.1922, expressed in 306 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
894281.2336223
894300.286614
894270.2581108
894310.108512

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
jejunal mucosaUBERON:000039999.00gold quality
duodenumUBERON:000211494.19gold quality
rectumUBERON:000105289.76gold quality
colonic mucosaUBERON:000031787.57gold quality
ileal mucosaUBERON:000033187.33silver quality
mucosa of sigmoid colonUBERON:000499386.69gold quality
mucosa of transverse colonUBERON:000499186.00gold quality
gall bladderUBERON:000211085.55gold quality
small intestineUBERON:000210885.01gold quality
small intestine Peyer’s patchUBERON:000345484.69gold quality
right lobe of liverUBERON:000111479.37gold quality
body of pancreasUBERON:000115078.54gold quality
liverUBERON:000210777.99gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047377.16gold quality
pancreasUBERON:000126476.66gold quality
transverse colonUBERON:000115776.46gold quality
jejunumUBERON:000211576.17gold quality
islet of LangerhansUBERON:000000675.54gold quality
calcaneal tendonUBERON:000370174.38gold quality
intestineUBERON:000016073.03gold quality
bronchial epithelial cellCL:000232872.59gold quality
adult mammalian kidneyUBERON:000008270.64gold quality
kidneyUBERON:000211370.46gold quality
mucosa of paranasal sinusUBERON:000503070.44gold quality
vermiform appendixUBERON:000115469.93gold quality
colonic epitheliumUBERON:000039769.76gold quality
olfactory segment of nasal mucosaUBERON:000538668.95gold quality
large intestineUBERON:000005968.58gold quality
caecumUBERON:000115368.29gold quality
epithelium of bronchusUBERON:000203168.27gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes7.26

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

13 targets.

TargetRegulation
AFPActivation
AGTUnknown
AKR1C4Unknown
APOA4Unknown
APOC3Activation
CD74
CYP2D6Activation
GHR
HAS2Activation
HNF1AUnknown
HSD17B7Unknown
SERPINA1Unknown
SHBGUnknown

JASPAR motifs

MotifNameFamily
MA0484.1HNF4GRXR-related receptors (NR2)
MA0484.2HNF4GRXR-related receptors (NR2)
MA0484.3HNF4GRXR-related receptors (NR2)

JASPAR matrix evidence (PMIDs): PMID:22383578

Upstream regulators (CollecTRI, top): NR0B2

miRNA regulators (miRDB)

139 targeting HNF4G, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-3646100.0073.565283
HSA-MIR-340-5P100.0072.504437
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-656-3P100.0072.152788
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-3924100.0072.092394
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-366299.9973.825684
HSA-MIR-428299.9975.366408
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-318599.9968.121959
HSA-MIR-371A-3P99.9966.7791
HSA-MIR-548N99.9871.944170
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-314899.9775.066478
HSA-MIR-60799.9773.625593
HSA-MIR-568899.9673.234504
HSA-MIR-495-3P99.9672.814197
HSA-MIR-302E99.9670.742669
HSA-MIR-590-3P99.9674.346478

Literature-anchored findings (GeneRIF, showing 11)

  • 2.7 A X-ray crystalography results suggest that the HNF4s may be transcription factors that are constitutively bound to fatty acids (PMID:12220494)
  • results suggest that the expression level of dihydrodiol dehydrogenase 4 mRNA is cooperatively regulated by the amounts of HNF-1 alpha, HNF-4 alpha and HNF-4 gamma (PMID:12544512)
  • Heterodimerization of HNF4alpha and HNF4gamma was found (PMID:21047794)
  • Single nucleotide polymorphisms in HNF4G gene is associated with obesity. (PMID:23563607)
  • The present data indicates that TT genotype of rs2941484 in the human HNF4G gene might be a gender-specific genetic marker for hyperuricemia in Chinese Han men. (PMID:28460474)
  • The HNF4gamma whose expression was increased contained two variants. (PMID:30224520)
  • Metformin inhibits pancreatic cancer metastasis caused by SMAD4 deficiency and consequent HNF4G upregulation. (PMID:32737864)
  • microRNA-320b suppresses HNF4G and IGF2BP2 expression to inhibit angiogenesis and tumor growth of lung cancer. (PMID:33758932)
  • [Expression of hepatocyte nuclear factor 4gamma in gastric carcinoma and its role in cell proliferation and stemness]. (PMID:34794218)
  • Hepatocyte nuclear factor 4 gamma (HNF4G) is correlated with poor prognosis and promotes tumor cell growth by inhibiting caspase-dependent intrinsic apoptosis in colorectal cancer. (PMID:34965388)
  • HNF4G stimulates the development of pancreatic cancer by promoting IGF2BP2 transcription. (PMID:36607591)

Cross-species orthologs

30 orthologs

OrganismSymbolGene ID
danio_reriohnf4gENSDARG00000071565
mus_musculusHnf4gENSMUSG00000017688
rattus_norvegicusHnf4gENSRNOG00000008971
drosophila_melanogasteruspFBGN0003964
drosophila_melanogasterHr78FBGN0015239
drosophila_melanogasterHr83FBGN0037436
caenorhabditis_elegansWBGENE00003626
caenorhabditis_elegansWBGENE00003650
caenorhabditis_elegansnhr-69WBGENE00003659
caenorhabditis_elegansWBGENE00003683
caenorhabditis_elegansWBGENE00003706
caenorhabditis_elegansWBGENE00003719
caenorhabditis_elegansWBGENE00003726
caenorhabditis_elegansWBGENE00007547
caenorhabditis_elegansWBGENE00008221
caenorhabditis_elegansWBGENE00011097
caenorhabditis_elegansWBGENE00011098
caenorhabditis_elegansWBGENE00011099
caenorhabditis_elegansWBGENE00011100
caenorhabditis_elegansWBGENE00015395
caenorhabditis_elegansWBGENE00015396
caenorhabditis_elegansWBGENE00015397
caenorhabditis_elegansWBGENE00015705
caenorhabditis_elegansWBGENE00016975
caenorhabditis_elegansWBGENE00017198
caenorhabditis_elegansWBGENE00017787
caenorhabditis_elegansWBGENE00020748
caenorhabditis_elegansWBGENE00021848
caenorhabditis_elegansWBGENE00022423
caenorhabditis_elegansWBGENE00044354

Paralogs (11): HNF4A (ENSG00000101076), NR2E1 (ENSG00000112333), NR2C1 (ENSG00000120798), RXRG (ENSG00000143171), NR2F6 (ENSG00000160113), NR2F1 (ENSG00000175745), NR2C2 (ENSG00000177463), NR2F2 (ENSG00000185551), RXRA (ENSG00000186350), RXRB (ENSG00000204231), NR2E3 (ENSG00000278570)

Protein

Protein identifiers

Hepatocyte nuclear factor 4-gamma — Q14541 (reviewed: Q14541)

Alternative names: Nuclear receptor subfamily 2 group A member 2

All UniProt accessions (3): A0A6E1WB48, Q14541, F1D8Q4

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor. Has a lower transcription activation potential than HNF4-alpha.

Subcellular location. Nucleus.

Tissue specificity. Expressed in pancreas, kidney, small intestine and testis. Weakly expressed in colon. Not expressed in liver, skeletal muscle, lung, placenta, brain, heart, peripheral blood, ovary, prostate, thymus and spleen.

Similarity. Belongs to the nuclear hormone receptor family. NR2 subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q14541-11yes
Q14541-22

RefSeq proteins (2): NP_001317490, NP_004124* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000536Nucl_hrmn_rcpt_lig-bdDomain
IPR001628Znf_hrmn_rcptDomain
IPR001723Nuclear_hrmn_rcptFamily
IPR013088Znf_NHR/GATAHomologous_superfamily
IPR035500NHR-like_dom_sfHomologous_superfamily
IPR049635HNF4_LBDDomain
IPR049636HNF4-like_DBDDomain
IPR050274Nuclear_hormone_rcpt_NR2Family

Pfam: PF00104, PF00105

UniProt features (32 total): helix 12, modified residue 4, strand 3, turn 3, sequence conflict 2, zinc finger region 2, chain 1, domain 1, splice variant 1, sequence variant 1, DNA-binding region 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
1LV2X-RAY DIFFRACTION2.7

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q14541-F181.180.64

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 (4): 94, 370, 373, 377

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-210745Regulation of gene expression in beta cells
R-HSA-383280Nuclear Receptor transcription pathway

MSigDB gene sets: 113 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, MODULE_404, MARTINEZ_RB1_TARGETS_UP, CATRRAGC_UNKNOWN, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, OCT1_06, MODULE_123, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, GATA1_04, TATA_C, GOBP_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY, REACTOME_REGULATION_OF_GENE_EXPRESSION_IN_BETA_CELLS, CDPCR3HD_01, RIZ_ERYTHROID_DIFFERENTIATION_APOBEC2, MARTINEZ_RB1_AND_TP53_TARGETS_UP

GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355), intracellular receptor signaling pathway (GO:0030522), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (10): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), nuclear receptor activity (GO:0004879), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (6): chromatin (GO:0000785), nucleoplasm (GO:0005654), cytosol (GO:0005829), intercellular bridge (GO:0045171), mitotic spindle (GO:0072686), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Regulation of beta-cell development1
Generic Transcription Pathway1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
regulation of DNA-templated transcription3
RNA polymerase II transcription regulatory region sequence-specific DNA binding3
transcription by RNA polymerase II2
regulation of transcription by RNA polymerase II2
DNA-templated transcription2
DNA-binding transcription factor activity, RNA polymerase II-specific2
cellular developmental process1
positive regulation of DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
intracellular signal transduction1
positive regulation of RNA biosynthetic process1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
DNA-binding transcription activator activity1
positive regulation of transcription by RNA polymerase II1
transcription cis-regulatory region binding1
transcription regulator activity1
intracellular receptor signaling pathway1
signaling receptor activity1
ligand-modulated transcription factor activity1
transition metal ion binding1
nucleic acid binding1
binding1
DNA binding1
cation binding1
chromosome1
nuclear lumen1
cytoplasm1
spindle1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

924 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
HNF4GPFKFB1P16118766
HNF4GFOXA2Q9Y261759
HNF4GHNF1AP20823718
HNF4GONECUT1Q9UBC0659
HNF4GPCK1P35558587
HNF4GFOXM1Q08050556
HNF4GA1CFQ9NQ94525
HNF4GFOXA1P55317519
HNF4GFOXA3P55318489
HNF4GTTRP02766475
HNF4GSLC17A1Q14916457
HNF4GUBE2Q2Q8WVN8447
HNF4GTMEM171Q8WVE6447
HNF4GB3GNT4Q9C0J1446
HNF4GTRIM46Q7Z4K8445

IntAct

3 interactions, top by confidence:

ABTypeScore
HNF4GHMGN2psi-mi:“MI:0915”(physical association)0.400
HLFHNF4Gpsi-mi:“MI:0915”(physical association)0.370

BioGRID (19): PSMC5 (Two-hybrid), NCOA1 (Two-hybrid), HNF4G (Reconstituted Complex), HNF4G (Two-hybrid), HNF4G (Proximity Label-MS), SNX19 (Cross-Linking-MS (XL-MS)), FAM206A (Cross-Linking-MS (XL-MS)), HNF4G (Two-hybrid), TNNI2 (Two-hybrid), GAPDH (Two-hybrid), PRDX6 (Two-hybrid), RANBP9 (Two-hybrid), HAX1 (Two-hybrid), PNRC1 (Two-hybrid), PNRC2 (Two-hybrid)

ESM2 similar proteins: A2T929, F1QLY4, O00482, O09018, O42101, O95718, P11475, P19793, P22449, P24468, P28700, P28701, P28705, P31396, P41235, P43135, P48443, P49698, P49700, P49743, P51128, P51129, P54779, P62508, P62509, P62510, P79926, Q05343, Q06725, Q06726, Q0GFF6, Q0VC20, Q14541, Q5BJR8, Q5I7G2, Q5RAM2, Q5REL6, Q60632, Q61539, Q6DHP9

Diamond homologs: A0JNE3, A2T928, A4IIG7, G5ECR9, G5EDJ0, O02151, O45666, O76202, O97716, P10276, P10588, P10826, P10827, P10828, P11416, P12813, P13056, P13631, P16376, P18117, P18514, P18515, P18516, P18911, P20153, P22448, P22449, P22605, P22736, P22829, P28699, P31396, P33242, P33244, P41828, P41830, P43354, P45447, P49116, P49117

SIGNOR signaling

4 interactions.

AEffectBMechanism
HNF4G“up-regulates quantity by expression”AKR1C4“transcriptional regulation”
HNF4G“up-regulates quantity by expression”AFP“transcriptional regulation”
“all-trans-retinoic acid”“down-regulates quantity by repression”HNF4G
HNF4G“up-regulates quantity by expression”HAS2“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance50
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1214 predictions. Top by Δscore:

VariantEffectΔscore
8:75540078:GTG:Gdonor_gain1.0000
8:75543810:GATA:Gacceptor_gain1.0000
8:75543955:G:GGdonor_gain1.0000
8:75551386:A:AGacceptor_gain1.0000
8:75551387:G:GGacceptor_gain1.0000
8:75551387:GCT:Gacceptor_gain1.0000
8:75551491:CCAG:Cdonor_loss1.0000
8:75551492:CAGGT:Cdonor_loss1.0000
8:75551493:AG:Adonor_loss1.0000
8:75551494:GG:Gdonor_loss1.0000
8:75551495:GT:Gdonor_loss1.0000
8:75551496:T:Gdonor_loss1.0000
8:75553193:ATCAG:Adonor_loss1.0000
8:75553194:TCAG:Tdonor_loss1.0000
8:75553195:CAGG:Cdonor_loss1.0000
8:75553196:AGGT:Adonor_loss1.0000
8:75553197:GGTA:Gdonor_loss1.0000
8:75553198:GT:Gdonor_loss1.0000
8:75553199:T:Adonor_loss1.0000
8:75558513:CATA:Cacceptor_loss1.0000
8:75558514:ATAG:Aacceptor_gain1.0000
8:75558515:TAGG:Tacceptor_loss1.0000
8:75558516:A:AGacceptor_gain1.0000
8:75558516:A:ATacceptor_loss1.0000
8:75558516:AG:Aacceptor_gain1.0000
8:75558517:G:Aacceptor_loss1.0000
8:75558517:G:GAacceptor_gain1.0000
8:75558517:GG:Gacceptor_gain1.0000
8:75558517:GGA:Gacceptor_gain1.0000
8:75558517:GGAA:Gacceptor_gain1.0000

AlphaMissense

3031 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:75543867:T:AC12S1.000
8:75543867:T:CC12R1.000
8:75543868:G:AC12Y1.000
8:75543868:G:CC12S1.000
8:75543869:T:GC12W1.000
8:75543874:T:AI14N1.000
8:75543876:T:AC15S1.000
8:75543876:T:CC15R1.000
8:75543877:G:AC15Y1.000
8:75543877:G:CC15S1.000
8:75543877:G:TC15F1.000
8:75543878:T:GC15W1.000
8:75543883:A:TD17V1.000
8:75543894:G:AG21R1.000
8:75543894:G:CG21R1.000
8:75543895:G:AG21E1.000
8:75543895:G:TG21V1.000
8:75543900:C:AH23N1.000
8:75543900:C:GH23D1.000
8:75543901:A:GH23R1.000
8:75543902:C:AH23Q1.000
8:75543902:C:GH23Q1.000
8:75543903:T:AY24N1.000
8:75543903:T:CY24H1.000
8:75543903:T:GY24D1.000
8:75543904:A:GY24C1.000
8:75543906:G:AG25R1.000
8:75543906:G:CG25R1.000
8:75543906:G:TG25W1.000
8:75543907:G:AG25E1.000

dbSNP variants (sampled 300 via entrez): RS1000010739 (8:75555352 A>C,G), RS1000030992 (8:75413010 C>A), RS1000042192 (8:75417239 T>C), RS1000050079 (8:75564051 A>G,T), RS1000056007 (8:75485563 T>A), RS1000058143 (8:75510439 C>A,T), RS1000079521 (8:75523809 T>C), RS1000086938 (8:75485836 G>C), RS1000118707 (8:75514383 G>T), RS1000125353 (8:75516062 C>T), RS1000126513 (8:75555076 A>G), RS1000138275 (8:75444015 G>A,C), RS1000143711 (8:75460927 T>A), RS1000159178 (8:75539507 C>G), RS1000167160 (8:75477328 G>A)

Disease associations

OMIM: gene MIM:605966 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

55 associations (top):

StudyTraitp-value
GCST000830_22Body mass index6.000000e-08
GCST001791_36Urate levels4.000000e-17
GCST001937_62Breast cancer6.000000e-15
GCST001953_15Obesity2.000000e-09
GCST001953_26Obesity4.000000e-10
GCST002783_297Body mass index1.000000e-11
GCST002783_30Body mass index1.000000e-08
GCST002783_553Body mass index2.000000e-11
GCST002783_64Body mass index2.000000e-06
GCST004495_137BMI (adjusted for smoking behaviour)7.000000e-08
GCST004497_108Body mass index (joint analysis main effects and smoking interaction)2.000000e-08
GCST004497_109Body mass index (joint analysis main effects and smoking interaction)8.000000e-06
GCST004499_43BMI in non-smokers1.000000e-06
GCST004557_12Body mass index2.000000e-09
GCST004557_191Body mass index9.000000e-06
GCST004557_197Body mass index4.000000e-06
GCST004557_226Body mass index2.000000e-09
GCST004557_96Body mass index5.000000e-06
GCST004558_146Body mass index (joint analysis main effects and physical activity interaction)3.000000e-10
GCST004558_9Body mass index (joint analysis main effects and physical activity interaction)8.000000e-09
GCST004558_94Body mass index (joint analysis main effects and physical activity interaction)5.000000e-06
GCST004559_7Body mass index in physically active individuals3.000000e-07
GCST004559_89Body mass index in physically active individuals4.000000e-06
GCST004560_42Body mass index in physically inactive individuals2.000000e-06
GCST004904_24Body mass index2.000000e-09
GCST004904_41Body mass index8.000000e-19
GCST004988_18Breast cancer4.000000e-24
GCST005434_5Pancreatic cancer7.000000e-10
GCST005950_11Body mass index x sex x age interaction (4df test)1.000000e-08
GCST005951_52Body mass index3.000000e-08

EFO canonical traits (15, from GWAS)

EFO IDTrait name
EFO:0004340body mass index
EFO:0004531urate measurement
EFO:0004318smoking behavior
EFO:0008002physical activity measurement
EFO:0008007age at assessment
EFO:0008343sex interaction measurement
EFO:0004761uric acid measurement
EFO:0007636attention function measurement
EFO:0005763pulse pressure measurement
EFO:0006335systolic blood pressure
EFO:0008328chronotype measurement
EFO:0007789BMI-adjusted waist circumference
EFO:0009819comparative body size at age 10, self-reported
EFO:0004305erythrocyte count
EFO:0004532serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1961786 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: nhr — 2A. Hepatocyte nuclear factor-4 receptors

Most potent curated ligand interactions (1 total), top 1:

LigandActionAffinityParameter
HNF4α inhibitorAgonist7.77pEC50

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
7.77EC5017nMCHEMBL6188913

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

ChemicalActions (top 5)PubMed papers
Aflatoxin B1decreases methylation, affects expression, decreases expression3
Acetaminophendecreases expression2
Benzo(a)pyrenedecreases expression2
Tetrachlorodibenzodioxindecreases expression2
aristolochic acid Idecreases expression1
bisphenol Aincreases methylation1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arsenitedecreases expression1
2-palmitoylglycerolincreases expression1
abrinedecreases expression1
jinfukangaffects cotreatment, decreases expression1
(+)-JQ1 compounddecreases expression1
Air Pollutantsdecreases expression1
Amiodaroneincreases expression1
Cisplatinaffects cotreatment, decreases expression1
Ethyl Methanesulfonatedecreases expression1
Formaldehydedecreases expression1
Methyl Methanesulfonatedecreases expression1
Quercetindecreases expression1
Silicon Dioxidedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Uric Acidaffects abundance1
Valproic Aciddecreases methylation1
8-Bromo Cyclic Adenosine Monophosphateincreases expression1
Cyclosporineincreases expression1
Cadmium Chloridedecreases expression1
Palmitic Aciddecreases expression1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1961844BindingEffect on HNF4G(NR2A2) dependent reporter activity in HEK293 cells at 20 uMRegulation of circadian behaviour and metabolism by synthetic REV-ERB agonists. — Nature

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_A2V2SEES3-1V human HNF4G, clone1Embryonic stem cellMale
CVCL_A2V3SEES3-1V human HNF4G, clone2Embryonic stem cellMale
CVCL_A2V4SEES3-1V human HNF4G, clone3Embryonic stem cellMale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 79

This page pulls from 79 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgtopdb_interactiongwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot