Barhl2 BarH like homeobox 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Barhl2provided by MGI
Official Full Name: BarH like homeobox 2provided by MGI
Primary source: MGI:MGI:1859314
See related: Ensembl:ENSMUSG00000034384 AllianceGenome:MGI:1859314
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: MBH1; E130309B19Rik
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific. Acts upstream of or within several processes, including generation of neurons; positive regulation of macromolecule biosynthetic process; and regulation of axon extension. Located in nucleus. Is expressed in several structures, including alimentary system epithelium; eye; and nervous system. Human ortholog(s) of this gene implicated in oral squamous cell carcinoma. Orthologous to human BARHL2 (BarH like homeobox 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 10.0), CNS E11.5 (RPKM 8.8) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 E5; 5 51.43 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (106600389..106606032, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (106452523..106458166, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

by acting upstream of Shh signaling pathway, Barhl2 plays a crucial role in patterning the progenitor domains and establishing the positional identities of progenitor cells in the diencephalon.
Title: Barhl2 Determines the Early Patterning of the Diencephalon by Regulating Shh.
The expression of Barhl2 in the thalamus and pretectum is related to, and regulated by, the expression of Pax6. Pax6 is known to be required for normal diencephalic development. The findings suggest that some of its actions might be mediated by its maintenance of a repressive influence over Barhl2 expression in the thalamus and pretectum.
Title: Expression of Barhl2 and its relationship with Pax6 expression in the forebrain of the mouse embryo.
results elucidate BARHL2 as a critical postmitotic regulator of dI1 subtype diversification, as well as its intermediate position in the dI1 genetic hierarchy
Title: BARHL2 transcription factor regulates the ipsilateral/contralateral subtype divergence in postmitotic dI1 neurons of the developing spinal cord.
in the developing diencephalon, Caspase3 acts downstream of Barhl2 in limiting neuroepithelial cell proliferation by inhibiting beta-catenin activation.
Title: Barhl2 limits growth of the diencephalic primordium through Caspase3 inhibition of beta-catenin activation.
BARHL2 plays roles in retinal development, including regulating neuronal subtype specification, differentiation, and survival.
Title: BARHL2 differentially regulates the development of retinal amacrine and ganglion neurons.
Math1 directly regulates the Mbh genes in CGCs. Furthermore, a dominant-negative form of the Mbh proteins disrupted proper
Title: Transcriptional cascade from Math1 to Mbh1 and Mbh2 is required for cerebellar granule cell differentiation.
Data suggest that Barhl2 may function to specify the identity of glycinergic amacrine cells from competent progenitors during retinogenesis.
Title: Role of the Barhl2 homeobox gene in the specification of glycinergic amacrine cells.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

Barhl2 (e-PCR), detects polymorphism
- UniSTS:507945

AL034195 (e-PCR)
- UniSTS:94021

D11Mit114 (e-PCR), detects polymorphism
- UniSTS:126303

Barhl2 (e-PCR), detects polymorphism
- UniSTS:547188

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	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 RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within amacrine cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell fate commitment	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell fate determination	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 nervous system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron 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
acts_upstream_of_or_within positive regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of axon extension	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

Component	Evidence Code	Pubs
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: barH-like 2 homeobox protein

Names: BarH-class homeodomain transcription factor; bar-class homeodomain protein MBH1; homeobox protein B-H1

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.