BHLHE23 basic helix-loop-helix family member e23 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BHLHE23provided by HGNC
Official Full Name: basic helix-loop-helix family member e23provided by HGNC
Primary source: HGNC:HGNC:16093
See related: Ensembl:ENSG00000125533 MIM:609331; AllianceGenome:HGNC:16093
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BETA4; BHLHB4; Beta3b; bA305P22.3
Summary: This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013]
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (63005927..63006964, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (64806267..64807304, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (61637279..61638316, complement)

Chromosome 20 - NC_000020.11 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?

Knockout mouse retinal dysfunction resembles human congenital stationary night blindness.
Title: The transcription factor Bhlhb4 is required for rod bipolar cell maturation.
Mouse Bhlhe23 can function as a transcriptional repressor.
Title: BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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	ISA Inferred from Sequence Alignment more info
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info
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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
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 sensory organ development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor 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 B, 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.

mRNA and Protein(s)

NM_080606.4 → NP_542173.2 class E basic helix-loop-helix protein 23

Status: REVIEWED

Source sequence(s)

AL121673, BC137288

Consensus CDS

CCDS33507.2

UniProtKB/Swiss-Prot

B2RP69, Q8NDY6

UniProtKB/TrEMBL

A0A087WXG3

Related

ENSP00000480998.1, ENST00000612929.2

Conserved Domains (1) summary

cl00081
Location:111 → 191

bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily