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Hnf4a Gene Detail
Summary
  • Symbol
    Hnf4a
  • Name
    hepatic nuclear factor 4, alpha
  • Synonyms
    Hnf4, HNF-4, HNF4 alpha, MODY1, Nr2a1, Nuclear receptor 2A1, Tcf14, Tcf4
  • Feature Type
    protein coding gene
  • IDs
    MGI:109128
    NCBI Gene: 15378
Location & Maps
more
  • Sequence Map
    Chr2:163506808-163572910 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      66103 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 84.32 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    HNF4A, hepatocyte nuclear factor 4 alpha
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HNF4A, hepatocyte nuclear factor 4 alpha
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF14
  • Links
    NCBI Gene ID: 3172
    neXtProt AC: NX_P41235

  • Chr Location
    20q13.12; chr20:44355801-44432845 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Hnf4a mouse models; 3 with human HNF4A associations

Human Disease Mouse Models
       Maturity-Onset Diabetes of the Young, Type 1; MODY1   OMIM: 125850 View 1 model
       Diabetes Mellitus, Noninsulin-Dependent; NIDDM   OMIM: 125853
Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young; FRTS4   OMIM: 616026
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 10 alleles in 10 genetic backgrounds
    2 phenotypes from multigenic genotypes
    52 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Gene trapped
    2
  • Targeted
    16
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    593 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000008654 hepatocyte nuclear factor 4-alpha
  • InterPro Domains
    IPR001723 Nuclear hormone receptor
    IPR000536 Nuclear hormone receptor, ligand-binding domain
    IPR000003 Retinoid X receptor/HNF4
    IPR003068 Transcription factor COUP
    IPR013088 Zinc finger, NHR/GATA-type
    IPR001628 Zinc finger, nuclear hormone receptor-type
Molecular
Reagents
less
  • All nucleic 115
    Genomic 10
    cDNA 91
    Primer pair 13
    Other 1

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-38172
References
more
  • Summaries
    All 244
    Developmental Gene Expression 132
    Diseases 1
    Gene Ontology 30
    Phenotypes 52
  • 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:231596 Minocha S, et al., Compensatory embryonic response to allele-specific inactivation of the murine X-linked gene Hcfc1. Dev Biol. 2016 Apr 1;412(1):1-17

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
06/15/2016
MGI 6.04
The Jackson Laboratory