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

Gene ID: 128408, updated on 1-Feb-2015
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; HPRD:16550; MIM:609331; Vega:OTTHUMG00000032948
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; 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
See BHLHE23 in MapViewer
Location:
20q13.33
Exon count:
1
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (63005979..63007035, 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 Neighboring gene solute carrier family 17 (vesicular nucleotide transporter), member 9 Neighboring gene uncharacterized LOC63930 Neighboring gene long intergenic non-protein coding RNA 29 Neighboring gene long intergenic non-protein coding RNA 1056

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
class E basic helix-loop-helix protein 23
Names
class E basic helix-loop-helix protein 23
basic helix-loop-helix domain containing, class B, 4
class B basic helix-loop-helix protein 4

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_080606.3NP_542173.2  class E basic helix-loop-helix protein 23

    Status: REVIEWED

    Source sequence(s)
    BC137288
    Consensus CDS
    CCDS33507.2
    UniProtKB/TrEMBL
    A0A087WXG3
    UniProtKB/Swiss-Prot
    Q8NDY6
    Related
    ENSP00000480998, OTTHUMP00000031526, ENST00000612929, OTTHUMT00000080095
    Conserved Domains (1) summary
    cd00083
    Location:118174
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38 Primary Assembly

    Range
    63005979..63007035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    61538035..61539091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000152.1 Alternate HuRef

    Range
    58354584..58355640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)