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Aliases for BHLHE23 Gene

Aliases for BHLHE23 Gene

  • Basic Helix-Loop-Helix Family Member E23 2 3 5
  • Basic Helix-Loop-Helix Domain Containing, Class B, 4 2 3
  • Class B Basic Helix-Loop-Helix Protein 4 3 4
  • BHLHB4 3 4
  • Class E Basic Helix-Loop-Helix Protein 23 3
  • Basic Helix-Loop-Helix Family, Member E23 2
  • BA305P22.3 3
  • BHLHe23 4
  • Beta3b 3
  • BHLHb4 4
  • BETA4 3

External Ids for BHLHE23 Gene

Previous HGNC Symbols for BHLHE23 Gene

  • BHLHB4

Previous GeneCards Identifiers for BHLHE23 Gene

  • GC20M061110
  • GC20M061637
  • GC20M058354

Summaries for BHLHE23 Gene

Entrez Gene Summary for BHLHE23 Gene

  • 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]

GeneCards Summary for BHLHE23 Gene

BHLHE23 (Basic Helix-Loop-Helix Family Member E23) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein dimerization activity. An important paralog of this gene is BHLHE22.

UniProtKB/Swiss-Prot for BHLHE23 Gene

  • May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity).

Additional gene information for BHLHE23 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BHLHE23 Gene

Genomics for BHLHE23 Gene

GeneHancer (GH) Regulatory Elements for BHLHE23 Gene

Promoters and enhancers for BHLHE23 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J063004 Enhancer 1.5 FANTOM5 Ensembl ENCODE 674.7 -1.2 -1178 6.9 PKNOX1 SMAD1 ZFP64 ARID4B SIN3A IRF4 ZNF207 ZNF143 DEK SP3 BHLHE23 LINC01749 LINC01056 PPDPF DIDO1 TCFL5
GH20J062352 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.9 +644.9 644920 19.1 CLOCK MLX ZFP64 DMAP1 YY1 ZNF263 SP3 NFYC SSRP1 GLIS1 LAMA5 DIDO1 LAMA5-AS1 ARFGAP1 YTHDF1 TAF4 MTG2 CABLES2 OSBPL2 BHLHE23
GH20J062873 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.5 +131.4 131380 4.1 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 DIDO1 GMEB2 SLC17A9 GID8 OGFR-AS1 BHLHE23 TCFL5 ARF4P2 LOC105372717 ENSG00000273759
GH20J062649 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 1.6 +354.9 354943 4.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A FEZF1 ENSG00000276317 ENSG00000277496 OGFR YTHDF1 OGFR-AS1 MTG2 MIR1-1 MIR1-1HG-AS1 MIR1-1HG DIDO1
GH20J062349 Enhancer 0.5 FANTOM5 dbSUPER 5.6 +657.4 657403 0.3 CDC5L LAMA5-AS1 CABLES2 BHLHE23 LAMA5 SLCO4A1 RBBP8NL SS18L1 TAF4 MIR4758
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BHLHE23 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BHLHE23 gene promoter:

Genomic Locations for BHLHE23 Gene

Genomic Locations for BHLHE23 Gene
chr20:63,005,927-63,007,035
(GRCh38/hg38)
Size:
1,109 bases
Orientation:
Minus strand
chr20:61,637,331-61,638,387
(GRCh37/hg19)

Genomic View for BHLHE23 Gene

Genes around BHLHE23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BHLHE23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BHLHE23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHLHE23 Gene

Proteins for BHLHE23 Gene

  • Protein details for BHLHE23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDY6-BHE23_HUMAN
    Recommended name:
    Class E basic helix-loop-helix protein 23
    Protein Accession:
    Q8NDY6
    Secondary Accessions:
    • B2RP69

    Protein attributes for BHLHE23 Gene

    Size:
    225 amino acids
    Molecular mass:
    23665 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BHLHE23 Gene

Post-translational modifications for BHLHE23 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BHLHE23 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BHLHE23 Gene

Domains & Families for BHLHE23 Gene

Gene Families for BHLHE23 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for BHLHE23 Gene

Suggested Antigen Peptide Sequences for BHLHE23 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BHLHE23: view

No data available for UniProtKB/Swiss-Prot for BHLHE23 Gene

Function for BHLHE23 Gene

Molecular function for BHLHE23 Gene

UniProtKB/Swiss-Prot Function:
May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity).

Gene Ontology (GO) - Molecular Function for BHLHE23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with BHLHE23: view
genes like me logo Genes that share phenotypes with BHLHE23: view

Animal Models for BHLHE23 Gene

MGI Knock Outs for BHLHE23:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BHLHE23 Gene

Localization for BHLHE23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BHLHE23 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BHLHE23 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for BHLHE23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with BHLHE23: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BHLHE23 Gene

Pathways & Interactions for BHLHE23 Gene

SuperPathways for BHLHE23 Gene

No Data Available

Interacting Proteins for BHLHE23 Gene

Gene Ontology (GO) - Biological Process for BHLHE23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
GO:0046548 retinal rod cell development IEA --
genes like me logo Genes that share ontologies with BHLHE23: view

No data available for Pathways by source and SIGNOR curated interactions for BHLHE23 Gene

Drugs & Compounds for BHLHE23 Gene

No Compound Related Data Available

Transcripts for BHLHE23 Gene

mRNA/cDNA for BHLHE23 Gene

(2) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BHLHE23 Gene

Basic helix-loop-helix family, member e23:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BHLHE23 Gene

No ASD Table

Relevant External Links for BHLHE23 Gene

GeneLoc Exon Structure for
BHLHE23
ECgene alternative splicing isoforms for
BHLHE23

Expression for BHLHE23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BHLHE23 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BHLHE23 Gene

This gene is overexpressed in Testis (x28.2) and Heart - Atrial Appendage (x5.9).

Protein differential expression in normal tissues from HIPED for BHLHE23 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BHLHE23 Gene



Protein tissue co-expression partners for BHLHE23 Gene

NURSA nuclear receptor signaling pathways regulating expression of BHLHE23 Gene:

BHLHE23

SOURCE GeneReport for Unigene cluster for BHLHE23 Gene:

Hs.551230
genes like me logo Genes that share expression patterns with BHLHE23: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for BHLHE23 Gene

Orthologs for BHLHE23 Gene

This gene was present in the common ancestor of animals.

Orthologs for BHLHE23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BHLHE23 34 33
  • 99.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BHLHE23 34 33
  • 88.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bhlhe23 33
  • 82.81 (n)
mouse
(Mus musculus)
Mammalia Bhlhe23 16 34 33
  • 81.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BHLHE23 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BHLHE23 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves BHLHE23 34 33
  • 72.43 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bhlhe23 34 33
  • 65.54 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Oli 34
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-17 34
  • 52 (a)
ManyToMany
Species where no ortholog for BHLHE23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for BHLHE23 Gene

ENSEMBL:
Gene Tree for BHLHE23 (if available)
TreeFam:
Gene Tree for BHLHE23 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BHLHE23: view image

Paralogs for BHLHE23 Gene

Paralogs for BHLHE23 Gene

(4) SIMAP similar genes for BHLHE23 Gene using alignment to 1 proteins:

  • BHE23_HUMAN
genes like me logo Genes that share paralogs with BHLHE23: view

Variants for BHLHE23 Gene

Sequence variations from dbSNP and Humsavar for BHLHE23 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000631529 -- 63,008,785(-) C/G upstream_transcript_variant
rs1000959981 -- 63,006,670(-) G/A coding_sequence_variant, synonymous_variant
rs1002407737 -- 63,005,964(-) C/T downstream_transcript_variant
rs1003430693 -- 63,008,719(-) T/G upstream_transcript_variant
rs1004178747 -- 63,005,556(-) T/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BHLHE23 Gene

Variant ID Type Subtype PubMed ID
nsv834028 CNV loss 17160897
nsv9825 CNV gain 18304495

Variation tolerance for BHLHE23 Gene

Gene Damage Index Score: 2.66; 45.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BHLHE23 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BHLHE23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BHLHE23 Gene

Disorders for BHLHE23 Gene

Additional Disease Information for BHLHE23

No disorders were found for BHLHE23 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BHLHE23 Gene

Publications for BHLHE23 Gene

  1. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PMID: 18557763) Stevens JD … Skinner MK (Differentiation; research in biological diversity 2008) 2 3 58
  2. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PMID: 14516699) McLellan AS … Kealey T (Mechanisms of development 2002) 3 4 58
  3. BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary. (PMID: 11863370) Bramblett DE … Tsai MJ (Genomics 2002) 2 3 58
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  5. HER2-targeted recombinant protein immuno-caspase-6 effectively induces apoptosis in HER2-overexpressing GBM cells in vitro and in vivo. (PMID: 27633091) Zhang L … Yang A (Oncology reports 2016) 3 58

Products for BHLHE23 Gene

Sources for BHLHE23 Gene

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