Gbx2 gastrulation brain homeobox 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gbx2provided by MGI
Official Full Name: gastrulation brain homeobox 2provided by MGI
Primary source: MGI:MGI:95668
See related: Ensembl:ENSMUSG00000034486 AllianceGenome:MGI:95668
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: Gbx-2; MMoxA; Stra7; D130058E05Rik
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II core promoter sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Acts upstream of or within several processes, including branching involved in blood vessel morphogenesis; nervous system development; and neural crest cell migration. Located in nucleus. Is expressed in several structures, including 1st branchial arch; central nervous system; ear; embryo ectoderm; and reproductive system. Orthologous to human GBX2 (gastrulation brain homeobox 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in whole brain E14.5 (RPKM 10.0), CNS E14 (RPKM 6.9) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 D; 1 45.06 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (89855684..89858898, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (89927962..89931176, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Gbx2 Identifies Two Amacrine Cell Subtypes with Distinct Molecular, Morphological, and Physiological Properties.
Title: Gbx2 Identifies Two Amacrine Cell Subtypes with Distinct Molecular, Morphological, and Physiological Properties.
Functional studies indicated that Klf4 mediates the self-renewal-promoting effects of Gbx2, because knockdown of Klf4 expression abrogated the ability of Gbx2 to maintain the undifferentiated state of mESCs.
Title: The transcription factor Gbx2 induces expression of Kruppel-like factor 4 to maintain and induce naïve pluripotency of embryonic stem cells.
Deregulated FGF8 and Otx2/Gbx2 gene expression underlies cerebellar vermis hypoplasia in mouse model of CHARGE syndrome.
Title: Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.
Gbx2 is essential for the acquisition of the thalamic neuronal identity by repressing habenular identity through a feedback signaling from postmitotic neurons to progenitors
Title: Gbx2 is essential for maintaining thalamic neuron identity and repressing habenular characters in the developing thalamus.
Results reveal a novel function of Gbx2 in mESC reprogramming and LIF/Stat3-mediated self-renewal.
Title: Gbx2, a LIF/Stat3 target, promotes reprogramming to and retention of the pluripotent ground state.
Results indicate that the dynamic expression of Gbx2 may act as an important determinant in coupling with other developmental programs to generate distinct thalamic nuclei.
Title: Gbx2 plays an essential but transient role in the formation of thalamic nuclei.
Identified are several GBX2 candidate target genes including ROBO1, PLXNA4, SLIT3, NRP1, PCDH15, USH2A, NOTCH2, and EEF1A1 that are likely to contribute many of the developmental defects observed in Gbx2 mutant organisms.
Title: Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2.
Gbx2 regulates thalamocortical axon guidance by modifying the LIM and Robo codes.
Title: Gbx2 regulates thalamocortical axon guidance by modifying the LIM and Robo codes.
the Gbx2 homeodomain recognizes the target TAATTA in the FM enhancer, and Gbx2 associates with the FM enhancer in the hindbrain
Title: Gbx2 directly restricts Otx2 expression to forebrain and midbrain, competing with class III POU factors.
long-term lineage analysis reveals that the presence and timing of Gbx2 expression in interneuron progenitors results in the differential contribution to subtypes of terminally differentiated interneurons in the adult spinal cord
Title: The lineage contribution and role of Gbx2 in spinal cord development.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (6) 1 citation

General gene information

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Markers

fd52b08.x1 (e-PCR)
- UniSTS:195620

Gbx2 (e-PCR), detects polymorphism
- UniSTS:506930

U74300 (e-PCR)
- UniSTS:158825

Gbx2 (e-PCR), detects polymorphism
- UniSTS:548004

NoName (e-PCR)
- UniSTS:495288

L39770 (e-PCR)
- UniSTS:124910

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within autonomic nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in blood vessel morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within branching involved in blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar granule cell precursor proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hindbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within midbrain-hindbrain boundary development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within midbrain-hindbrain boundary morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within rhombomere 2 development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thalamus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tube morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: homeobox protein GBX-2

Names: gastrulation and brain-specific homeobox protein 2; stimulated by retinoic acid gene 7 protein

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.