Bhlhe23 basic helix-loop-helix family, member e23 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bhlhe23provided by MGI
Official Full Name: basic helix-loop-helix family, member e23provided by MGI
Primary source: MGI:MGI:2153710
See related: Ensembl:ENSMUSG00000045493 AllianceGenome:MGI:2153710
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: BETA4; Beta3b; Bhlhb4; A930001L02Rik
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and E-box binding activity. Acts upstream of or within eye morphogenesis; negative regulation of retinal cell programmed cell death; and positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Is expressed in several structures, including brain; branchial arch; limb; maxillary process; and urinary system. Orthologous to human BHLHE23 (basic helix-loop-helix family member e23). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 103.34 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (180416174..180418693, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (180774381..180776900, complement)

Chromosome 2 - NC_000068.8 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?

Data show that Ap-2delta occupies and activates the Pou4f3 and Bhlhb4 promoters.
Title: AP-2δ is a crucial transcriptional regulator of the posterior midbrain.
BHLHB4 may modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types.
Title: BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary.

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Variation

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Alleles

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

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

General gene information

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Markers

NoName (e-PCR)
- UniSTS:491544

Bhlhe23 (e-PCR), detects polymorphism
- UniSTS:545902

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of retinal cell programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
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 post-embryonic eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of retinal cell programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal rod cell development	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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: class E basic helix-loop-helix protein 23

Names: basic helix-loop-helix domain containing, class B4; beta-cell E-box transactivating factor 4; class B basic helix-loop-helix protein 4

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.