Gene table of HNF4A : hepatocyte nuclear factor 4 alpha

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HNF4A	OMIM link	Number of associated genes	genes
PS134600	FANCONI RENOTUBULAR SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	SLC34A1, EHHADH, HNF4A
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT	ClinVar, OMIM, HUMSAVAR	link to OMIM	33	SLC2A2, HNF4A, TCF7L2, SLC30A8, GPD2, PAX4, PTPN1, SLC2A4, ABCC8, HMGA1, LIPC, NEUROD1, CDKAL1, WFS1, PPARG, RETN, AKT2, IRS2, IL6, IRS1, GCGR, CAPN10, IGF2BP2, INSR, PDX1, MTNR1B, GCK, HNF1B, HNF1A, MAPK8IP1, ENPP1, PPP1R3A, KCNJ11
125850	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	HNF4A

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Annotation of the gene HNF4A

Associated genes in ENSEMBL

ENSG00000101076

Associated proteins - SwissProt Accession ID

P41235

Associated PDB IDs

Cytogenetic Band

20q13.12

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
AMPK signaling pathway	hsa04152	5.8
Maturity onset diabetes of the young	hsa04950	8.07

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Nuclear Receptor transcription pathway	R-HSA-383280	7.31
Regulation of gene expression in beta cells	R-HSA-210745	8.66
Regulation of beta-cell development	R-HSA-186712	7.98
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
nucleic acid binding	GO:0003676	1.44
activating transcription factor binding	GO:0033613	5.68
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
cation binding	GO:0043169	1.4
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
molecular transducer activity	GO:0060089	2.32
transcription factor activity, direct ligand regulated sequence-specific DNA binding	GO:0098531	5.87
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
receptor activity	GO:0004872	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	GO:0004879	5.87
thiolester hydrolase activity	GO:0016790	6.18
sulfur compound binding	GO:1901681	4.32
coenzyme binding	GO:0050662	4.53
CoA hydrolase activity	GO:0016289	6.69
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
transcription factor binding	GO:0008134	3.46
zinc ion binding	GO:0008270	2.66
fatty-acyl-CoA binding	GO:0000062	6.3
ion binding	GO:0043167	1.36
identical protein binding	GO:0042802	2.63
fatty acid binding	GO:0005504	6.37
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
protein homodimerization activity	GO:0042803	3.16
hydrolase activity	GO:0016787	1.9
sequence-specific DNA binding	GO:0043565	2.79
acyl-CoA hydrolase activity	GO:0047617	6.79
regulatory region nucleic acid binding	GO:0001067	3.03
lipid binding	GO:0008289	3.26
hydrolase activity, acting on ester bonds	GO:0016788	3.1
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
RNA polymerase II activating transcription factor binding	GO:0001102	6.13
core promoter sequence-specific DNA binding	GO:0001046	5.12
monocarboxylic acid binding	GO:0033293	5.61
protein dimerization activity	GO:0046983	2.72
RNA polymerase II transcription factor binding	GO:0001085	5.08
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
carboxylic acid binding	GO:0031406	4.64
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
steroid hormone receptor activity	GO:0003707	5.66
palmitoyl-CoA hydrolase activity	GO:0016290	7.25
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
core promoter binding	GO:0001047	4.71
receptor binding	GO:0005102	2.43
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
anion binding	GO:0043168	4.17
nucleic acid binding transcription factor activity	GO:0001071	2.65