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 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; chr20:42984441-43061485 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human HNF4A

Alleles and phenotypes

All alleles(16) : Targeted(14) Gene trapped(2)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (81 annotations)

Process	acyl-CoA metabolic process, blood coagulation, ...
Component	cytoplasm, nucleus, ...
Function	activating transcription factor binding, DNA binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (103 records)
Data Summary: Results (540)    Tissues (304)    Images (165)
Theiler Stages: 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	50
RNA in situ	340
Northern blot	17
Western blot	6
RT-PCR	111
RNase protection	16

cDNA source data(89)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(113) Genomic(10) cDNA(91) Primer pair(11) Other(1)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000001071 (Evidence)
Ensembl Gene Model	ENSMUSG00000017950 (Evidence)
Entrez Gene	15378 (Evidence)
UniGene	202383
DFCI	TC1577944, TC1683495
DoTS	DT.101292118, DT.94290401
NIA Mouse Gene Index	U002787
Consensus CDS Project	CCDS17012.1
International Mouse Knockout Project Status	Hnf4a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000001071	VEGA Gene Model | MGI Sequence Detail	66103	C57BL/6J
transcript	OTTMUST00000002121	VEGA | MGI Sequence Detail	4362	Not Applicable
polypeptide	OTTMUSP00000001023	VEGA | MGI Sequence Detail	465	Not Applicable

All sequences(49) RefSeq(2) UniProt(8)

Polymorphisms

RFLP(1) : SNPs(332 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194289 Bell SM, et al., Kruppel-like factor 5 controls villus formation and initiation of cytodifferentiation in the embryonic intestinal epithelium. Dev Biol. 2013 Mar 15;375(2):128-39
All references(200)

Other accession IDs

MGD-MRK-38172