Foxa2 forkhead box A2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Foxa2provided by MGI
Official Full Name: forkhead box A2provided by MGI
Primary source: MGI:MGI:1347476
See related: Ensembl:ENSMUSG00000037025 AllianceGenome:MGI:1347476
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hnf3b; Tcf3b; Hnf-3b; Tcf-3b; HNF3beta; HNF3-beta
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in several processes, including negative regulation of detection of glucose; negative regulation of glucokinase activity; and regulation of transcription, DNA-templated. Acts upstream of or within several processes, including animal organ development; chordate embryonic development; and regulation of neuron differentiation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; endoderm; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Orthologous to human FOXA2 (forkhead box A2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in colon adult (RPKM 33.4), stomach adult (RPKM 27.8) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 G3; 2 73.38 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (147884797..147888889, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (148042877..148046969, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CK1alpha deficiency impairs mouse uterine adenogenesis by inducing epithelial cell apoptosis through GSK3beta pathway and inhibiting Foxa2 expression through p53 pathwaydagger.
Title: CK1α deficiency impairs mouse uterine adenogenesis by inducing epithelial cell apoptosis through GSK3β pathway and inhibiting Foxa2 expression through p53 pathway†.
Pioneer Factor Foxa2 Mediates Chromatin Conformation Changes for Activation of Bile Acid Targets of FXR.
Title: Pioneer Factor Foxa2 Mediates Chromatin Conformation Changes for Activation of Bile Acid Targets of FXR.
FXR controls insulin content by regulating Foxa2-mediated insulin transcription.
Title: FXR controls insulin content by regulating Foxa2-mediated insulin transcription.
Foxa2 attenuates steatosis and inhibits the NF-kappaB/IKK signaling pathway in nonalcoholic fatty liver disease.
Title: Foxa2 attenuates steatosis and inhibits the NF-κB/IKK signaling pathway in nonalcoholic fatty liver disease.
Hepatocyte-specific HDAC3 ablation promotes hepatocellular carcinoma in females by suppressing Foxa1/2.
Title: Hepatocyte-specific HDAC3 ablation promotes hepatocellular carcinoma in females by suppressing Foxa1/2.
Upregulation of FOXA2 in uterine luminal epithelium and vaginal basal epithelium of epiERalpha-/- (Esr1fl/flWnt7aCre/+) micedagger.
Title: Upregulation of FOXA2 in uterine luminal epithelium and vaginal basal epithelium of epiERα-/- (Esr1fl/flWnt7aCre/+) mice†.
FOXA2 prevents hyperbilirubinaemia in acute liver failure by maintaining apical MRP2 expression.
Title: FOXA2 prevents hyperbilirubinaemia in acute liver failure by maintaining apical MRP2 expression.
Redistribution of lamina-associated domains reshapes binding of pioneer factor FOXA2 in development of nonalcoholic fatty liver disease.
Title: Redistribution of lamina-associated domains reshapes binding of pioneer factor FOXA2 in development of nonalcoholic fatty liver disease.
FOXA2 drives lineage plasticity and KIT pathway activation in neuroendocrine prostate cancer.
Title: FOXA2 drives lineage plasticity and KIT pathway activation in neuroendocrine prostate cancer.
The Pioneer Transcription Factor Foxa2 Modulates T Helper Differentiation to Reduce Mouse Allergic Airway Disease.
Title: The Pioneer Transcription Factor Foxa2 Modulates T Helper Differentiation to Reduce Mouse Allergic Airway Disease.

Submit: New GeneRIF Correction See all GeneRIFs (126)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (13) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Foxa2 (e-PCR), detects polymorphism
- UniSTS:506897

Foxa2 (e-PCR), detects polymorphism
- UniSTS:143129

L10409 (e-PCR)
- UniSTS:178730

AW742760 (e-PCR)
- UniSTS:207421

UniSTS:474762 (e-PCR)
- UniSTS:474762

Foxa2 (e-PCR), detects polymorphism
- UniSTS:474762

Foxa2 (e-PCR), detects polymorphism
- UniSTS:464791

Foxa2 (e-PCR), detects polymorphism
- UniSTS:496800

PMC86995P1 (e-PCR)
- UniSTS:273572

NoName (e-PCR)
- UniSTS:547510

Foxa2 (e-PCR), detects polymorphism
- UniSTS:547510

Foxa2 (e-PCR), detects polymorphism
- UniSTS:532672

L10409 (e-PCR)
- UniSTS:124873

Foxa2 (e-PCR), detects polymorphism
- UniSTS:465387

Foxa2 (e-PCR), detects polymorphism
- UniSTS:547832

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II general transcription initiation factor activity	TAS Traceable Author Statement more info	PubMed
enables SMAD binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables kinase binding	ISO Inferred from Sequence Orthology more info
enables nucleic acid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription factor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anatomical structure formation involved in morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within anatomical structure morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell differentiation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within cell differentiation in hindbrain	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell differentiation in hindbrain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate specification	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular response to cadmium ion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within chromatin organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within connective tissue development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of dopaminergic neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dopaminergic neuron differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ectoderm formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endocrine pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocrine pancreas development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lung epithelial cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of mesendoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of glucokinase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription from RNA polymerase II promoter by glucose	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of dopaminergic neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase III	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription from RNA polymerase II promoter by glucose	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within primitive streak formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood coagulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of lipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of steroid metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of steroid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in response to interleukin-6	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within signal transduction involved in regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within somite rostral/caudal axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: hepatocyte nuclear factor 3-beta

Names: HNF-3-beta; forkhead box protein A2; hepatocyte nuclear factor 3 beta (winged helix transcription factor)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001291065.1 → NP_001277994.1 hepatocyte nuclear factor 3-beta isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AL845297, L10409

Consensus CDS

CCDS71157.1

UniProtKB/TrEMBL

G5E8P5, Q2M4J9

Related

ENSMUSP00000105590.2, ENSMUST00000109964.8

Conserved Domains (4) summary

smart00339
Location:165 → 253

FH; FORKHEAD

pfam08430
Location:23 → 164

Forkhead_N; Forkhead N-terminal region

pfam09354
Location:381 → 454

HNF_C; HNF3 C-terminal domain

pfam16056
Location:224 → 319

DUF4799; Domain of unknown function (DUF4799)
NM_001291067.1 → NP_001277996.1 hepatocyte nuclear factor 3-beta isoform c

See identical proteins and their annotated locations for NP_001277996.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AL845297, BU055166

UniProtKB/TrEMBL

Q2M4J9

Conserved Domains (4) summary

smart00339
Location:129 → 217

FH; FORKHEAD

pfam08430
Location:1 → 128

Forkhead_N; Forkhead N-terminal region

pfam09354
Location:345 → 418

HNF_C; HNF3 C-terminal domain

pfam16056
Location:188 → 283

DUF4799; Domain of unknown function (DUF4799)
NM_010446.3 → NP_034576.2 hepatocyte nuclear factor 3-beta isoform b

See identical proteins and their annotated locations for NP_034576.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AL845297, L10409

Consensus CDS

CCDS16836.1

UniProtKB/Swiss-Prot

A2AR89, P35583, Q60602

UniProtKB/TrEMBL

Q2M4J9

Related

ENSMUSP00000045918.4, ENSMUST00000047315.10

Conserved Domains (4) summary

smart00339
Location:159 → 247

FH; FORKHEAD

pfam08430
Location:17 → 158

Forkhead_N; Forkhead N-terminal region

pfam09354
Location:375 → 448

HNF_C; HNF3 C-terminal domain

pfam16056
Location:218 → 313

DUF4799; Domain of unknown function (DUF4799)