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Hnf4a
Gene Detail
Symbol

Name
ID
Hnf4a
hepatic nuclear factor 4, alpha
MGI:109128
Synonyms
Hnf4, HNF-4, HNF4 alpha, MODY1, Nr2a1, Nuclear receptor 2A1, Tcf14, Tcf4
Feature Type
protein coding gene
Genetic Map
Chromosome 2
84.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr2:163506808-163572910 bp, + strand
From VEGA annotation of GRCm38

  66103 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:395  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: retinoic X receptor-like nuclear receptor
Gene Tree: Hnf4a

Human
homologs
Human Homolog HNF4A, hepatocyte nuclear factor 4, alpha
NCBI Gene ID 3172
neXtProt AC  NX_P41235
Human Synonyms  HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF14
Human Chr (Location)  20q13.12; chr20:44355801-44432845 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human HNF4A
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(2) Targeted(14)
Incidental mutations (data from Mutagenetix , APF )
 
Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia.
 
Human Diseases Modeled Using Mouse Hnf4a (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Hnf4a interacts with 265 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (85 annotations)
Process acyl-CoA metabolic process, blood coagulation, ...
Component cytoplasm, nucleus, ...
Function DNA binding, fatty acid binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (113 records)
Data Summary: Results (550)    Tissues (320)    Images (166)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 50
RNA in situ 352
Northern blot 17
Western blot 6
RT-PCR 109
RNase protection 16
cDNA source data(89)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(113) Genomic(10) cDNA(91) Primer pair(11) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000001071 (Evidence)
Ensembl Gene ModelENSMUSG00000017950 (Evidence)
Entrez Gene15378 (Evidence)
UniGene202383
DFCITC1577944, TC1683495
DoTSDT.101292118, DT.94290401
NIA Mouse Gene IndexU002787
Consensus CDS ProjectCCDS17012.1
International Mouse Knockout Project StatusHnf4a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000001071 VEGA Gene Model | MGI Sequence Detail 66103 C57BL/6J ±  kb
transcript OTTMUST00000002121 VEGA | MGI Sequence Detail 4362 Not Applicable 
polypeptide OTTMUSP00000001023 VEGA | MGI Sequence Detail 465 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(6) UniProt(9)
Polymorphisms
RFLP(1) : SNPs within 2kb(621 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008946 Nuclear hormone receptor, ligand-binding
InterPro IPR000536 Nuclear hormone receptor, ligand-binding, core
InterPro IPR000003 Retinoid X receptor/HNF4
InterPro IPR001723 Steroid hormone receptor
InterPro IPR003068 Transcription factor COUP
InterPro IPR013088 Zinc finger, NHR/GATA-type
InterPro IPR001628 Zinc finger, nuclear hormone receptor-type
Protein Ontology PR:000008654 hepatocyte nuclear factor 4-alpha
References
(Earliest) J:912 Avraham KB, et al., Murine chromosomal location of four hepatocyte-enriched transcription factors: HNF-3 alpha, HNF-3 beta, HNF-3 gamma, and HNF-4. Genomics. 1992 Jun;13(2):264-8
(Latest) J:212199 Zhang Q, et al., Alterations of epigenetic signatures in hepatocyte nuclear factor 4alpha deficient mouse liver determined by improved ChIP-qPCR and (h)MeDIP-qPCR assays. PLoS One. 2014;9(1):e84925
All references(222)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-38172

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory