Bhlhe22 basic helix-loop-helix family, member e22 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bhlhe22provided by MGI
Official Full Name: basic helix-loop-helix family, member e22provided by MGI
Primary source: MGI:MGI:1930001
See related: Ensembl:ENSMUSG00000025128 AllianceGenome:MGI:1930001
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Beta3; Beta3a; Bhlhb5
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin binding activity; and identical protein binding activity. Acts upstream of or within cerebral cortex regionalization; negative regulation of DNA-templated transcription; and neuron differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Orthologous to human BHLHE22 (basic helix-loop-helix family member e22). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 3 A1; 3 4.98 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (18108489..18111678)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (18054325..18057514)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bhlhb5 is expressed in both excitatory (unipolar brush cells) and inhibitory neurons (cartwheel cells) of the dorsal cochlear nucleus during development. Mice lacking Bhlhb5 had a diminished number of neurons. A Bhlhb5::flpo allele also genetically labels numerous other regions of the nervous system processing sensory input, including the dorsal horn, the retina, and the nucleus of the lateral olfactory tract.
Title: Bhlhb5::flpo allele uncovers a requirement for Bhlhb5 for the development of the dorsal cochlear nucleus.
hypothesis that neuropathic itch in BHLHB5-deficient animals can be treated by restoring inhibitory controls through spinal cord transplantation and integration of precursors of inhibitory interneurons derived from embryonic medial ganglionic eminence
Title: Transplant restoration of spinal cord inhibitory controls ameliorates neuropathic itch.
Bhlhb5 is broadly expressed throughout retinogenesis, and is required for the subtype development of amacrine and bipolar cells.
Title: Bhlhb5 is required for the subtype development of retinal amacrine and bipolar cells in mice.
These findings suggest that Prdm8 is an obligate partner of Bhlhb5, forming a repressor complex that directs neural circuit assembly in part through the precise regulation of Cadherin-11.
Title: Bhlhb5 and Prdm8 form a repressor complex involved in neuronal circuit assembly.
Atonal-related transcription factor Bhlhb5 is required for the survival of a specific population of inhibitory interneurons that regulate pruritis, and provide evidence that the loss of inhibitory synaptic input results in abnormal itch.
Title: Loss of inhibitory interneurons in the dorsal spinal cord and elevated itch in Bhlhb5 mutant mice.
These results show Bhlhb5's function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization.
Title: Bhlhb5 regulates the postmitotic acquisition of area identities in layers II-V of the developing neocortex.
Localization of Bhlhb5 mRNA expression in the central nervous system and sensory organs of the mouse embryo.
Title: Bhlhb5 is expressed in the CNS and sensory organs during mouse embryonic development.
BETA3 function is linked to the establishment rather than the initiation of neuronal fates
Title: Region-specific expression of the helix-loop-helix gene BETA3 in developing and adult brains.
Mouse Bhlhb5 can strongly repress a human PAX6 promoter. A single exon encodes a 355-amino-acid bHLH protein.
Title: Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor.
The results reveal that a bHLH transcription factor cascade is involved in regulating retinal cell differentiation and imply that Bhlhb5 functions downstream of retinogenic factors to specify bipolar and amacrine subtypes.
Title: Requirement for Bhlhb5 in the specification of amacrine and cone bipolar subtypes in mouse retina.

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Variation

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Alleles

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

Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB251138 (e-PCR)
- UniSTS:207464

RH141616 (e-PCR)
- UniSTS:223610

Bhlhb5 (e-PCR), detects polymorphism
- UniSTS:506751

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation 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 GABAergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within amacrine cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior commissure morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within central nervous system projection neuron axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex regionalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within corpus callosum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within corticospinal tract morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within corticospinal tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron fate commitment	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive 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	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal bipolar neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info

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: class E basic helix-loop-helix protein 22

Names: basic helix-loop-helix (bHLH) gene, class B, beta3; basic helix-loop-helix domain containing, class B5; class B basic helix-loop-helix protein 5

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.