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

Gene ID: 128408, updated on 13-Mar-2020

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
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

Genomic context

See BHLHE23 in Genome Data Viewer
Location:
20q13.33
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (63005927..63006964, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61637331..61638387, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene GID complex subunit 8 homolog Neighboring gene solute carrier family 17 member 9 Neighboring gene long intergenic non-protein coding RNA 1749 Neighboring gene uncharacterized LOC105372718 Neighboring gene long intergenic non-protein coding RNA 29

Genomic regions, transcripts, and products

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

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)

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)

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

    Status: REVIEWED

    Source sequence(s)
    AL121673, BC137288
    Consensus CDS
    CCDS33507.2
    UniProtKB/Swiss-Prot
    Q8NDY6
    UniProtKB/TrEMBL
    A0A087WXG3
    Related
    ENSP00000480998.1, ENST00000612929.2
    Conserved Domains (1) summary
    smart00353
    Location:122176
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    63005927..63006964 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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