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Aliases for HNF4A Gene

Aliases for HNF4A Gene

  • Hepatocyte Nuclear Factor 4, Alpha 2 3
  • TCF14 3 4 6
  • Nuclear Receptor Subfamily 2 Group A Member 1 3 4
  • Transcription Factor HNF-4 3 4
  • Transcription Factor 14 3 4
  • TCF-14 3 4
  • MODY1 3 6
  • NR2A1 3 4
  • HNF4 3 4
  • Hepatocyte Nuclear Factor 4-Alpha 3
  • Hepatic Nuclear Factor 4 Alpha 3
  • HNF4alpha10/11/12 3
  • HNF-4-Alpha 4
  • HNF4alpha 3
  • HNF4a7 3
  • HNF4a8 3
  • HNF4a9 3
  • NR2A21 3
  • FRTS4 3
  • MODY 3
  • TCF 3

External Ids for HNF4A Gene

Previous HGNC Symbols for HNF4A Gene

  • TCF14
  • MODY
  • MODY1

Previous GeneCards Identifiers for HNF4A Gene

  • GC20P042758
  • GC20P043668
  • GC20P043715
  • GC20P042463
  • GC20P042984
  • GC20P039720

Summaries for HNF4A Gene

Entrez Gene Summary for HNF4A Gene

  • 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]

GeneCards Summary for HNF4A Gene

HNF4A (Hepatocyte Nuclear Factor 4, Alpha) is a Protein Coding gene. Diseases associated with HNF4A include mody, type i and fanconi renotubular syndrome 4, with maturity-onset diabetes of the young. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is RXRG.

UniProtKB/Swiss-Prot for HNF4A Gene

  • Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine

Gene Wiki entry for HNF4A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNF4A Gene

Genomics for HNF4A Gene

Regulatory Elements for HNF4A Gene

Genomic Location for HNF4A Gene

Start:
44,355,700 bp from pter
End:
44,432,845 bp from pter
Size:
77,146 bases
Orientation:
Plus strand

Genomic View for HNF4A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HNF4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNF4A Gene

Proteins for HNF4A Gene

  • Protein details for HNF4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41235-HNF4A_HUMAN
    Recommended name:
    Hepatocyte nuclear factor 4-alpha
    Protein Accession:
    P41235
    Secondary Accessions:
    • A5JW41
    • B2RPP8
    • O00659
    • O00723
    • Q14540
    • Q5QPB8
    • Q6B4V5
    • Q6B4V6
    • Q6B4V7
    • Q92653
    • Q92654
    • Q92655
    • Q99864
    • Q9NQH0

    Protein attributes for HNF4A Gene

    Size:
    474 amino acids
    Molecular mass:
    52785 Da
    Quaternary structure:
    • Homodimerization is required for HNF4-alpha to bind to its recognition site. Interacts with PER2
    Miscellaneous:
    • Binds fatty acids
    SequenceCaution:
    • Sequence=AAB48082.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA54248.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA61133.1; Type=Frameshift; Positions=2, 7; Evidence={ECO:0000305}; Sequence=CAA61134.1; Type=Frameshift; Positions=2, 7; Evidence={ECO:0000305}; Sequence=CAA61135.1; Type=Frameshift; Positions=2, 7; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HNF4A Gene

    Alternative splice isoforms for HNF4A Gene

neXtProt entry for HNF4A Gene

Proteomics data for HNF4A Gene at MOPED

Post-translational modifications for HNF4A Gene

  • Acetylation at Lys-458 lowers transcriptional activation by about two-fold.
  • Phosphorylated on tyrosine residue(s); phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution. Phosphorylation at Ser-313 by AMPK reduces the ability to form homodimers and bind DNA.
  • Ubiquitination at Lys234 and Lys307
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HNF4A Gene

Domains for HNF4A Gene

Gene Families for HNF4A Gene

Graphical View of Domain Structure for InterPro Entry

P41235

UniProtKB/Swiss-Prot:

HNF4A_HUMAN :
  • P41235
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
genes like me logo Genes that share domains with HNF4A: view

Function for HNF4A Gene

Molecular function for HNF4A Gene

GENATLAS Biochemistry: transcription factor 4,hepatocyte nuclear factor 4 alpha,steroid/thyroid hormone receptor superfamily,coexpressed with TCF1 and binding TCF1 promoter (see also RGHE),including the alternatively spliced isoforms HNF4A1,HNF4A2,HNF4A4,expressed in pancreatic beta cells,regulating expression of genes required for glucose transport and metabolism,and of sex hormones-binding globulin,interacting with TCF1 for regulation of gene activity and chromatin structure of serpin cluster (PI)
UniProtKB/Swiss-Prot Function: Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine

Gene Ontology (GO) - Molecular Function for HNF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS --
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0003677 DNA binding IDA 10551874
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 10330009
genes like me logo Genes that share ontologies with HNF4A: view
genes like me logo Genes that share phenotypes with HNF4A: view

Animal Models for HNF4A Gene

MGI Knock Outs for HNF4A:
Targeting motifs for HNF4A Gene
HOMER Transcription Factor Regulatory Elements motif HNF4A
  • Consensus sequence: CAGAGGNCAAAGTCCA Submotif: DR1 Cell Type: HepG2 GeoId: GSE25021

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for HNF4A Gene

Localization for HNF4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNF4A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HNF4A Gene COMPARTMENTS Subcellular localization image for HNF4A gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 2
peroxisome 2
plasma membrane 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HNF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 14563941
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 14563941
genes like me logo Genes that share ontologies with HNF4A: view

Pathways for HNF4A Gene

genes like me logo Genes that share pathways with HNF4A: view

Gene Ontology (GO) - Biological Process for HNF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IMP 18163890
GO:0006366 transcription from RNA polymerase II promoter --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with HNF4A: view

Compounds for HNF4A Gene

(1) Drugbank Compounds for HNF4A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
MYRISTIC ACID
target

(1) IUPHAR Ligand for HNF4A Gene

Ligand Type Action Affinity Pubmed IDs
linoleic acid Channel blocker None

(63) Novoseek inferred chemical compound relationships for HNF4A Gene

Compound -log(P) Hits PubMed IDs
hmtp 74.3 4
androstane 73.8 14
glycogen 57.6 12
chenodeoxycholic acid 57.1 9
gw 4064 55.7 1
genes like me logo Genes that share compounds with HNF4A: view

Transcripts for HNF4A Gene

Unigene Clusters for HNF4A Gene

Hepatocyte nuclear factor 4, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HNF4A Gene

No ASD Table

Relevant External Links for HNF4A Gene

GeneLoc Exon Structure for
HNF4A
ECgene alternative splicing isoforms for
HNF4A

Expression for HNF4A Gene

mRNA expression in normal human tissues for HNF4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HNF4A Gene

This gene is overexpressed in Liver (23.8), Colon - Transverse (11.2), Kidney - Cortex (7.0), and Small Intestine - Terminal Ileum (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HNF4A Gene

SOURCE GeneReport for Unigene cluster for HNF4A Gene Hs.116462

genes like me logo Genes that share expressions with HNF4A: view

No data available for mRNA Expression by UniProt/SwissProt for HNF4A Gene

Orthologs for HNF4A Gene

This gene was present in the common ancestor of animals.

Orthologs for HNF4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HNF4A 35
  • 92.92 (n)
  • 92.12 (a)
HNF4A 36
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HNF4A 35
  • 92.53 (n)
  • 97.58 (a)
HNF4A 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HNF4A 35
  • 92.33 (n)
  • 98.31 (a)
HNF4A 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hnf4a 35
  • 89.73 (n)
  • 95.78 (a)
Hnf4a 16
Hnf4a 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HNF4A 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HNF4A 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hnf4a 35
  • 90.15 (n)
  • 95.99 (a)
chicken
(Gallus gallus)
Aves HNF4A 35
  • 82.16 (n)
  • 87.89 (a)
HNF4ALPHA 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HNF4A 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hnf4-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hnf4a 35
  • 74.01 (n)
  • 84.23 (a)
zebrafish
(Danio rerio)
Actinopterygii hnf4a 35
  • 72.83 (n)
  • 82.6 (a)
hnf4a 36
  • 83 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002155 35
  • 65.36 (n)
  • 64.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hnf4 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-35 36
  • 25 (a)
ManyToMany
nhr-64 36
  • 42 (a)
ManyToMany
nhr-69 36
  • 38 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for HNF4A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HNF4A Gene

ENSEMBL:
Gene Tree for HNF4A (if available)
TreeFam:
Gene Tree for HNF4A (if available)

Paralogs for HNF4A Gene

Paralogs for HNF4A Gene

Selected SIMAP similar genes for HNF4A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HNF4A: view

Variants for HNF4A Gene

Sequence variations from dbSNP and Humsavar for HNF4A Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs736820 -- 44,405,376(+) GGAAA(A/G)CGAAG intron-variant
rs736821 -- 44,405,439(+) CTCCT(A/G)GCACC intron-variant
rs736822 -- 44,405,531(+) GAGGG(A/T)TGGGA intron-variant
rs736824 -- 44,406,020(-) GAAGA(A/G)CAGAA intron-variant
rs745975 Likely benign 44,406,053(-) TCTGC(A/G)CCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HNF4A Gene

Variant ID Type Subtype PubMed ID
esv2663976 CNV Deletion 23128226
esv2504273 CNV Insertion 19546169
nsv819556 CNV Insertion 19587683

Relevant External Links for HNF4A Gene

HapMap Linkage Disequilibrium report
HNF4A
Human Gene Mutation Database (HGMD)
HNF4A
Locus Specific Mutation Databases (LSDB)
HNF4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNF4A Gene

Disorders for HNF4A Gene

(2) OMIM Diseases for HNF4A Gene (600281)

UniProtKB/Swiss-Prot

HNF4A_HUMAN
  • Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:17407387, ECO:0000269 PubMed:9243109, ECO:0000269 PubMed:9313765}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:9449683}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4) [MIM:616026]: A disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. {ECO:0000269 PubMed:22802087, ECO:0000269 PubMed:24285859}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(70) Novoseek inferred disease relationships for HNF4A Gene

Disease -log(P) Hits PubMed IDs
niddm 79.9 128
familial adenomatous polyposis 68.5 11
colon cancer 54.3 17
hepatoblastoma 53 4
hyperglycemia 47.7 6

Relevant External Links for HNF4A

Genetic Association Database (GAD)
HNF4A
Human Genome Epidemiology (HuGE) Navigator
HNF4A
genes like me logo Genes that share disorders with HNF4A: view

Publications for HNF4A Gene

  1. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity- onset diabetes of the young (MODY1). (PMID: 8945471) Yamagata K. … Bell G.I. (Nature 1996) 3 4 23 48
  2. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. (PMID: 17407387) Pearson E.R. … Hattersley A.T. (PLoS Med. 2007) 3 4 23 48
  3. PXR, CAR and HNF4alpha genotypes and their association with pharmacokinetics and pharmacodynamics of docetaxel and doxorubicin in Asian patients. (PMID: 17876342) Hor S.Y. … Tan T. (Pharmacogenomics J. 2008) 3 23 48
  4. Lack of association of single-nucleotide polymorphisms in pregnane X receptor, hepatic nuclear factor 4alpha, and constitutive androstane receptor with docetaxel pharmacokinetics. (PMID: 18056193) Tham L.S. … Goh B.C. (Clin. Cancer Res. 2007) 3 23 48
  5. Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento J.L. … Mychaleckyj J.C. (Genomics 2008) 3 23 48

Products for HNF4A Gene

  • Addgene plasmids for HNF4A

Sources for HNF4A Gene

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