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 th... See more...

Aliases for HNF4A Gene

Aliases for HNF4A Gene

  • Hepatocyte Nuclear Factor 4 Alpha 2 3 5
  • Nuclear Receptor Subfamily 2 Group A Member 1 3 4
  • Hepatocyte Nuclear Factor 4-Alpha 3 4
  • Transcription Factor HNF-4 3 4
  • Transcription Factor 14 3 4
  • TCF-14 3 4
  • TCF14 3 4
  • NR2A1 3 4
  • HNF4 3 4
  • 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
  • MODY1 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 Maturity-Onset Diabetes Of The Young, Type 1 and Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young. Among its related pathways are Developmental Biology and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HNF4G.

UniProtKB/Swiss-Prot Summary for HNF4A Gene

  • Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-ARNTL/BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698).

Gene Wiki entry for HNF4A Gene

Additional gene information for HNF4A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HNF4A Gene

Genomics for HNF4A Gene

GeneHancer (GH) Regulatory Elements for HNF4A Gene

Promoters and enhancers for HNF4A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J044397 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 758.7 +53.5 53528 22.9 ZNF24 SREBF1 LCORL FOXA1 MLX RBPJ POLR2A NR2F1 NR2F6 CREB1 HNF4A MIR3646 lnc-R3HDML-1 SRSF6 OSER1 MYBL2 JPH2 FITM2 LINC01430 LINC01620
GH20J044350 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 750.6 -1.1 -1112 8.1 LCORL MLX RBPJ NR2F6 ATF1 CREB1 MIXL1 NFYC ZKSCAN8 RERE ENSG00000226812 HNF4A LOC105372629 SRSF6 IFT52 OSER1 OSER1-DT MYBL2 ENSG00000201363 R3HDML
GH20J044367 Promoter 0.3 EPDnew 750.4 +12.3 12269 0.1 HNF4A MF281430-053 ENSG00000233376 HNF4A-AS1
GH20J044421 Enhancer 1.3 Ensembl ENCODE dbSUPER 20 +73.8 73825 15.2 MLX RBPJ NR2F6 ATF1 CREB1 MIXL1 NFYC HLF ZNF652 RERE HNF4A SRSF6 ENSG00000226812 FITM2 LINC01430 LINC01620 PKIG lnc-HNF4A-1 piR-61945-308 lnc-R3HDML-1
GH20J044392 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +39.1 39063 4.9 FOXA1 LCORL MLX RBPJ SMARCE1 NR2F1 NR2F6 ATF1 CREB1 MIXL1 HNF4A-AS1 HNF4A OSER1 LINC01430 LINC01620 OSER1-DT ENSG00000233376
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HNF4A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HNF4A gene promoter:
  • NRSF form 1
  • NRSF form 2
  • Sp1

Genomic Locations for HNF4A Gene

Genomic Locations for HNF4A Gene
chr20:44,355,700-44,434,596
(GRCh38/hg38)
Size:
78,897 bases
Orientation:
Plus strand
chr20:42,984,340-43,061,485
(GRCh37/hg19)
Size:
77,146 bases
Orientation:
Plus strand

Genomic View for HNF4A Gene

Genes around HNF4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HNF4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:14982928). Interacts with CLOCK, ARNTL, CRY1, CRY2, PER1 and PER2 (PubMed:30530698).
    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

Post-translational modifications for HNF4A Gene

  • 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.
  • Acetylation at Lys-458 lowers transcriptional activation by about two-fold.
  • Ubiquitination at Lys234 and Lys307
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for HNF4A Gene

Domains & Families for HNF4A Gene

Gene Families for HNF4A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for HNF4A Gene

GenScript: Design optimal peptide antigens:
  • Hepatocyte nuclear factor 4, alpha (B6ZGT3_HUMAN)
  • HNF4alpha10/11/12 (B9VVT8_HUMAN)
  • Hepatocyte nuclear factor 4 4 alpha variant 1 (F1D8S2_HUMAN)
  • Hepatocyte nuclear factor 4, alpha, isoform CRA_a (F1D8T0_HUMAN)
  • Hepatocyte nuclear factor 4 4 alpha variant 2 (F1D8T1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41235

UniProtKB/Swiss-Prot:

HNF4A_HUMAN :
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
Domain:
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
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

UniProtKB/Swiss-Prot Function:
Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-ARNTL/BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698).
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)

Phenotypes From GWAS Catalog for HNF4A Gene

Gene Ontology (GO) - Molecular Function for HNF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific ISS --
genes like me logo Genes that share ontologies with HNF4A: view
genes like me logo Genes that share phenotypes with HNF4A: view

Human Phenotype Ontology for HNF4A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HNF4A Gene

MGI Knock Outs for HNF4A:

Animal Model Products

CRISPR Products

Targeted motifs for HNF4A Gene
HOMER Transcription Factor Regulatory Elements motif HNF4A
  • Consensus sequence: CAGAGGNCAAAGTCCA Submotif: DR1 Cell Type: HepG2 GEO ID: GSE25021

Clone Products

  • Addgene plasmids for HNF4A

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

Localization for HNF4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNF4A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HNF4A gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HNF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 7615825
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA 14563941
genes like me logo Genes that share ontologies with HNF4A: view

Pathways & Interactions for HNF4A Gene

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

Pathways by source for HNF4A Gene

1 GeneGo (Thomson Reuters) pathway for HNF4A Gene
1 R&D Systems pathway for HNF4A Gene
10 Qiagen pathways for HNF4A Gene
  • Epithelial Adherens Junctions
  • Factors Promoting Cardiogenesis in Vertebrates
  • HIF1Alpha Pathway
  • Human Embryonic Stem Cell Pluripotency
  • ILK Signaling
1 Cell Signaling Technology pathway for HNF4A Gene
1 GeneTex pathway for HNF4A Gene

SIGNOR curated interactions for HNF4A Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HNF4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003323 type B pancreatic cell development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IMP 18163890
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006591 ornithine metabolic process IMP 17827783
genes like me logo Genes that share ontologies with HNF4A: view

Drugs & Compounds for HNF4A Gene

(52) Drugs for HNF4A Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
linoleic acid Approved, Experimental Pharma Full agonist, Agonist, Pore Blocker, Channel blocker 0
lauric acid Approved, Experimental Pharma Agonist, Target 0
Carbamazepine Approved, Investigational Pharma Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 103
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2231
Efavirenz Approved, Investigational Pharma Reverse transcriptase inhibitor 438

(25) Additional Compounds for HNF4A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for HNF4A Gene

Compound Action Cas Number
BI 6015 HNF4α antagonist 93987-29-2
genes like me logo Genes that share compounds with HNF4A: view

Transcripts for HNF4A Gene

CRISPR Products

Clone Products

  • Addgene plasmids for HNF4A

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x23.8), Colon - Transverse (x11.2), Kidney - Cortex (x7.0), and Small Intestine - Terminal Ileum (x6.0).

Protein differential expression in normal tissues from HIPED for HNF4A Gene

This gene is overexpressed in Liver, secretome (53.1) and Liver (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HNF4A Gene



Protein tissue co-expression partners for HNF4A Gene

NURSA nuclear receptor signaling pathways regulating expression of HNF4A Gene:

HNF4A

SOURCE GeneReport for Unigene cluster for HNF4A Gene:

Hs.116462

Evidence on tissue expression from TISSUES for HNF4A Gene

  • Liver(4.8)
  • Kidney(4.6)
  • Intestine(3)
  • Pancreas(2.8)
  • Stomach(2.3)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HNF4A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns 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 33 32
  • 92.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HNF4A 33 32
  • 92.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HNF4A 33 32
  • 92.33 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HNF4A 33
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hnf4a 32
  • 90.15 (n)
mouse
(Mus musculus)
Mammalia Hnf4a 17 33 32
  • 89.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HNF4A 33
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves HNF4ALPHA 33
  • 88 (a)
OneToOne
HNF4A 32
  • 82.16 (n)
lizard
(Anolis carolinensis)
Reptilia HNF4A 33
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hnf4a 32
  • 74.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia hnf4-prov 32
zebrafish
(Danio rerio)
Actinopterygii hnf4a 33 32 32
  • 72.83 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002155 32
  • 65.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hnf4 33
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-64 33
  • 42 (a)
ManyToMany
nhr-69 33
  • 38 (a)
ManyToMany
nhr-35 33
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 50 (a)
OneToMany
Species where no ortholog for HNF4A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HNF4A: view image

Paralogs for HNF4A Gene

Paralogs for HNF4A Gene

(19) SIMAP similar genes for HNF4A Gene using alignment to 3 proteins:

  • HNF4A_HUMAN
  • F8WBS7_HUMAN
  • Q8NHY1_HUMAN
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 Variation AA Info Type
rs1060499693 likely-pathogenic, Maturity-onset diabetes of the young, type 1 44,418,482(+) T/A coding_sequence_variant, missense_variant
rs1063239 uncertain-significance, not provided, - 44,429,573(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs11086926 likely-benign, Maturity onset diabetes mellitus in young, Hyperinsulinism, Dominant 44,430,057(+) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs111466682 uncertain-significance, Maturity onset diabetes mellitus in young, Hyperinsulinism, Dominant 44,430,186(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1131692187 uncertain-significance, Maturity-onset diabetes of the young, type 1 44,406,232(+) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2504273 CNV insertion 19546169
esv2663976 CNV deletion 23128226
esv3557112 CNV deletion 23714750
nsv1057847 CNV loss 25217958
nsv1061719 CNV gain 25217958
nsv586065 CNV gain 21841781
nsv819556 CNV insertion 19587683

Variation tolerance for HNF4A Gene

Residual Variation Intolerance Score: 6.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.34; 53.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HNF4A Gene

Human Gene Mutation Database (HGMD)
HNF4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNF4A

SNP Genotyping and Copy Number Assay Products

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

Disorders for HNF4A Gene

MalaCards: The human disease database

(33) MalaCards diseases for HNF4A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HNF4A in MalaCards View complete list of genes associated with diseases

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:10389854, 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 body's 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.

Additional Disease Information for HNF4A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HNF4A: view

No data available for Genatlas for HNF4A Gene

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 GI (Nature 1996) 3 4 23 43 56
  2. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. (PMID: 20164212) Flanagan SE … Ellard S (European journal of endocrinology 2010) 3 23 43 56
  3. Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. (PMID: 18811724) Plengvidhya N … Yenchitsomanus PT (Clinical endocrinology 2009) 3 23 43 56
  4. Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young. (PMID: 20003313) Taghavi SM … Valizadeh N (Cardiovascular diabetology 2009) 3 23 43 56
  5. Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento JL … Mychaleckyj JC (Genomics 2008) 3 23 43 56

Products for HNF4A Gene