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HNF4A

GENERAL INFORMATION

Gene name

 HNF4A

Gene description

 Hepatocyte nuclear factor 4, alpha

Protein class

 Disease related genes
Nuclear receptors
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 8
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (colon, duodenum, kidney, liver, rectum, small intestine, stomach)
GTEx:Group enriched (colon, kidney, liver, small intestine)
FANTOM5:Tissue enhanced (colon, liver, small intestine)

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in intestinal tract, liver and kidney.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA004712 , CAB019417
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Stomach

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (colon, duodenum, kidney, liver, rectum, small intestine, stomach)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (colon, kidney, liver, small intestine)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (colon, liver, small intestine)

GENE INFORMATION

Gene name

 HNF4A (HGNC Symbol)

Synonyms

 HNF4, MODY, MODY1, NR2A1, TCF14

Description

 Hepatocyte nuclear factor 4, alpha (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]

Chromosome

 20

Cytoband

 q13.12

Chromosome location (bp)

 44355700 - 44434596

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000101076 (version 83.38)

Entrez gene

 3172

UniProt

 P41235 (UniProt - Evidence at protein level)

neXtProt

 NX_P41235

Antibodypedia

 HNF4A antibodies

PROTEIN BROWSER
HNF4A-001
HNF4A-002
HNF4A-004
HNF4A-005
HNF4A-006
HNF4A-007
HNF4A-008
HNF4A-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HNF4A-001
ENSP00000315180
ENST00000316673
P41235 [Direct mapping]
Hepatocyte nuclear factor 4-alpha
F1D8T0 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 4 4 alpha variant 4; Hepatocyte nuclear factor 4, alpha, isoform CRA_a
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005102 [receptor binding]
GO:0005504 [fatty acid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006591 [ornithine metabolic process]
GO:0006805 [xenobiotic metabolic process]
GO:0007596 [blood coagulation]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0009749 [response to glucose]
GO:0010467 [gene expression]
GO:0019216 [regulation of lipid metabolic process]
GO:0030308 [negative regulation of cell growth]
GO:0030522 [intracellular receptor signaling pathway]
GO:0031018 [endocrine pancreas development]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050796 [regulation of insulin secretion]
GO:0055088 [lipid homeostasis]
GO:0055091 [phospholipid homeostasis]
GO:0060398 [regulation of growth hormone receptor signaling pathway]
GO:0070328 [triglyceride homeostasis]
GO:2000189 [positive regulation of cholesterol homeostasis]
Show all
 452 aa
50.1 kDa 		No 0
HNF4A-002
ENSP00000312987
ENST00000316099
P41235 [Direct mapping]
Hepatocyte nuclear factor 4-alpha
F1D8T1 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 4 4 alpha variant 2
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000062 [fatty-acyl-CoA binding]
GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005102 [receptor binding]
GO:0005504 [fatty acid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006591 [ornithine metabolic process]
GO:0006629 [lipid metabolic process]
GO:0006637 [acyl-CoA metabolic process]
GO:0006805 [xenobiotic metabolic process]
GO:0007164 [establishment of tissue polarity]
GO:0007548 [sex differentiation]
GO:0007596 [blood coagulation]
GO:0008134 [transcription factor binding]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0009749 [response to glucose]
GO:0010467 [gene expression]
GO:0010470 [regulation of gastrulation]
GO:0016290 [palmitoyl-CoA hydrolase activity]
GO:0019216 [regulation of lipid metabolic process]
GO:0023019 [signal transduction involved in regulation of gene expression]
GO:0030154 [cell differentiation]
GO:0030308 [negative regulation of cell growth]
GO:0030522 [intracellular receptor signaling pathway]
GO:0031018 [endocrine pancreas development]
GO:0032534 [regulation of microvillus assembly]
GO:0033159 [negative regulation of protein import into nucleus, translocation]
GO:0042493 [response to drug]
GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045216 [cell-cell junction organization]
GO:0045722 [positive regulation of gluconeogenesis]
GO:0045723 [positive regulation of fatty acid biosynthetic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045930 [negative regulation of mitotic cell cycle]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050796 [regulation of insulin secretion]
GO:0051591 [response to cAMP]
GO:0055088 [lipid homeostasis]
GO:0055091 [phospholipid homeostasis]
GO:0060395 [SMAD protein signal transduction]
GO:0060398 [regulation of growth hormone receptor signaling pathway]
GO:0070328 [triglyceride homeostasis]
GO:1902569 [negative regulation of activation of JAK2 kinase activity]
GO:2000189 [positive regulation of cholesterol homeostasis]
Show all
 474 aa
52.8 kDa 		No 0
HNF4A-004
ENSP00000410911
ENST00000443598
P41235 [Direct mapping]
Hepatocyte nuclear factor 4-alpha
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005102 [receptor binding]
GO:0005504 [fatty acid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006591 [ornithine metabolic process]
GO:0006805 [xenobiotic metabolic process]
GO:0007596 [blood coagulation]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0009749 [response to glucose]
GO:0010467 [gene expression]
GO:0019216 [regulation of lipid metabolic process]
GO:0030308 [negative regulation of cell growth]
GO:0030522 [intracellular receptor signaling pathway]
GO:0031018 [endocrine pancreas development]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050796 [regulation of insulin secretion]
GO:0055088 [lipid homeostasis]
GO:0055091 [phospholipid homeostasis]
GO:0060398 [regulation of growth hormone receptor signaling pathway]
GO:0070328 [triglyceride homeostasis]
GO:2000189 [positive regulation of cholesterol homeostasis]
Show all
 417 aa
46.6 kDa 		No 0
HNF4A-005
ENSP00000396216
ENST00000457232
P41235 [Direct mapping]
Hepatocyte nuclear factor 4-alpha
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005102 [receptor binding]
GO:0005504 [fatty acid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006591 [ornithine metabolic process]
GO:0006805 [xenobiotic metabolic process]
GO:0007596 [blood coagulation]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0009749 [response to glucose]
GO:0010467 [gene expression]
GO:0019216 [regulation of lipid metabolic process]
GO:0030308 [negative regulation of cell growth]
GO:0030522 [intracellular receptor signaling pathway]
GO:0031018 [endocrine pancreas development]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050796 [regulation of insulin secretion]
GO:0055088 [lipid homeostasis]
GO:0055091 [phospholipid homeostasis]
GO:0060398 [regulation of growth hormone receptor signaling pathway]
GO:0070328 [triglyceride homeostasis]
GO:2000189 [positive regulation of cholesterol homeostasis]
Show all
 442 aa
49 kDa 		No 0
HNF4A-006
ENSP00000412111
ENST00000415691
P41235 [Direct mapping]
Hepatocyte nuclear factor 4-alpha
F1D8S2 [Target identity:100%; Query identity:100%]
Hepatocyte nuclear factor 4 4 alpha variant 1
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005102 [receptor binding]
GO:0005504 [fatty acid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006591 [ornithine metabolic process]
GO:0006805 [xenobiotic metabolic process]
GO:0007596 [blood coagulation]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0009749 [response to glucose]
GO:0010467 [gene expression]
GO:0019216 [regulation of lipid metabolic process]
GO:0030308 [negative regulation of cell growth]
GO:0030522 [intracellular receptor signaling pathway]
GO:0031018 [endocrine pancreas development]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050796 [regulation of insulin secretion]
GO:0055088 [lipid homeostasis]
GO:0055091 [phospholipid homeostasis]
GO:0060398 [regulation of growth hormone receptor signaling pathway]
GO:0070328 [triglyceride homeostasis]
GO:2000189 [positive regulation of cholesterol homeostasis]
Show all
 464 aa
51.6 kDa 		No 0
HNF4A-007
ENSP00000476609
ENST00000609795
P41235 [Direct mapping]
Hepatocyte nuclear factor 4-alpha
Show all
Nuclear receptors
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005102 [receptor binding]
GO:0005504 [fatty acid binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006591 [ornithine metabolic process]
GO:0006805 [xenobiotic metabolic process]
GO:0007596 [blood coagulation]
GO:0008270 [zinc ion binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0009749 [response to glucose]
GO:0010467 [gene expression]
GO:0019216 [regulation of lipid metabolic process]
GO:0030308 [negative regulation of cell growth]
GO:0030522 [intracellular receptor signaling pathway]
GO:0031018 [endocrine pancreas development]
GO:0042593 [glucose homeostasis]
GO:0042803 [protein homodimerization activity]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0050796 [regulation of insulin secretion]
GO:0055088 [lipid homeostasis]
GO:0055091 [phospholipid homeostasis]
GO:0060398 [regulation of growth hormone receptor signaling pathway]
GO:0070328 [triglyceride homeostasis]
GO:2000189 [positive regulation of cholesterol homeostasis]
Show all
 395 aa
44 kDa 		No 0
HNF4A-008
ENSP00000476310
ENST00000609262
B9VVT8 [Direct mapping]
HNF4alpha10/11/12; Hepatocyte nuclear factor 4-alpha
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0043565 [sequence-specific DNA binding]
Show all
 103 aa
11.5 kDa 		No 0
HNF4A-201
ENSP00000481331
ENST00000619550
A0A087WXV4 [Direct mapping]
Hepatocyte nuclear factor 4-alpha
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003707 [steroid hormone receptor activity]
GO:0004879 [RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0030522 [intracellular receptor signaling pathway]
GO:0043401 [steroid hormone mediated signaling pathway]
GO:0043565 [sequence-specific DNA binding]
Show all
 449 aa
50 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.