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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
  • Basic Helix-Loop-Helix Family, Member E23 2
  • Class E Basic Helix-Loop-Helix Protein 23 3
  • BA305P22.3 3
  • BHLHe23 4
  • Beta3b 3
  • 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. 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).

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

Genomics for BHLHE23 Gene

Regulatory Elements for BHLHE23 Gene

Enhancers for BHLHE23 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F063004 1.6 FANTOM5 Ensembl ENCODE 24.7 -1.2 -1179 6.9 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A ZNF48 GLIS2 ZNF207 ZNF143 SP3 BHLHE23 LINC01749 LINC01056 PPDPF DIDO1 TCFL5
GH20F062352 1.3 FANTOM5 ENCODE 5.9 +650.6 650599 7.7 HDGF CREB3L1 ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 ELK1 GATA2 LAMA5-AS1 LAMA5 BHLHE23 MTG2 MRGBP ADRM1 RPS21 PSMA7 RBBP8NL CABLES2
GH20F062349 1.6 FANTOM5 Ensembl ENCODE 5.6 +656.5 656459 2.4 HDGF TBP KLF17 SIN3A ZEB1 ZNF121 GLIS2 SCRT2 SMARCC2 RCOR1 LAMA5 LAMA5-AS1 CABLES2 BHLHE23 SLCO4A1 RBBP8NL SS18L1 TAF4 LOC105372707
GH20F062873 1.3 FANTOM5 Ensembl ENCODE 2.5 +131.5 131481 4.3 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS DEK DIDO1 SLC17A9 GID8 OGFR-AS1 BHLHE23 TCFL5 ARF4P2 ENSG00000273759
GH20F063452 1.2 FANTOM5 Ensembl ENCODE 2.3 -447.8 -447798 5.5 HDGF PKNOX1 CREB3L1 ZNF207 FOS ZNF263 SP3 JUNB ZHX2 REST MIR647 RTEL1 ENSG00000226390 EEF1A2 ZNF512B KCNQ2 ARFGAP1 TNFRSF6B LOC105372725 MIR1914
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BHLHE23 on UCSC Golden Path with GeneCards custom track

Genomic Location for BHLHE23 Gene

Chromosome:
20
Start:
63,005,927 bp from pter
End:
63,007,035 bp from pter
Size:
1,109 bases
Orientation:
Minus strand

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

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

Q8NDY6

UniProtKB/Swiss-Prot:

BHE23_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with BHLHE23: view

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:0003677 DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with BHLHE23: view

Phenotypes for BHLHE23 Gene

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

Animal Models for BHLHE23 Gene

MGI Knock Outs for BHLHE23:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for BHLHE23 Gene 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

Pathways & Interactions for BHLHE23 Gene

SuperPathways for BHLHE23 Gene

No Data Available

Interacting Proteins for BHLHE23 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000359371%0d%0a9606.ENSP00000331057%0d%0a9606.ENSP00000346440%0d%0a9606.ENSP00000262965%0d%0a9606.ENSP00000317333%0d%0a
Selected Interacting proteins: ENSP00000359371 Q8NDY6-BHE23_HUMAN for BHLHE23 Gene via STRING IID

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:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
GO:0046548 retinal rod cell development IEA --
GO:0046671 negative regulation of retinal cell programmed cell death 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

Transcripts for BHLHE23 Gene

mRNA/cDNA for BHLHE23 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia BHLHE23 34 35
  • 88.29 (n)
rat
(Rattus norvegicus)
Mammalia Bhlhe23 34
  • 82.81 (n)
mouse
(Mus musculus)
Mammalia Bhlhe23 34 16 35
  • 81.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BHLHE23 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BHLHE23 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves BHLHE23 34 35
  • 72.43 (n)
zebrafish
(Danio rerio)
Actinopterygii bhlhe23 34 35
  • 65.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta Oli 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-17 35
  • 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)

Paralogs for BHLHE23 Gene

Paralogs for BHLHE23 Gene

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

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 Sequence Context AA Info Type
rs111974283 -- 63,006,804(+) GCCCG(A/C)GCCCG utr-variant-5-prime
rs112028222 -- 63,006,061(+) TTCTC(C/G/T)TGACA reference, missense
rs112851667 -- 63,006,953(+) CGCAG(G/T)GGGCG utr-variant-5-prime
rs112948854 -- 63,008,691(+) GGGCC(A/T)CCTCC upstream-variant-2KB
rs113293891 -- 63,008,398(+) AATTG(A/G)GGATA upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for BHLHE23

Genetic Association Database (GAD)
BHLHE23
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.D. … Skinner M.K. (Differentiation 2008) 2 3 64
  2. BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary. (PMID: 11863370) Bramblett D.E. … Tsai M.J. (Genomics 2002) 2 3 64
  3. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PMID: 14516699) McLellan A.S. … Kealey T. (Mech. Dev. 2002) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  5. Classification and evolutionary analysis of the basic helix-loop-helix gene family in the green anole lizard, Anolis carolinensis. (PMID: 23756994) Liu A. … Chen K. (Mol. Genet. Genomics 2013) 3 64

Products for BHLHE23 Gene

Sources for BHLHE23 Gene

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