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BHLHE23 Gene

protein-coding   GIFtS: 41
GCID: GC20M061637

Basic Helix-Loop-Helix Family, Member E23

(Previous names: basic helix-loop-helix domain containing, class B, 4)
(Previous symbol: BHLHB4)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Basic Helix-Loop-Helix Family, Member E231 2     bA305P22.32
BHLHB41 2 3 5     Class E Basic Helix-Loop-Helix Protein 232
Basic Helix-Loop-Helix Domain Containing, Class B, 41 2     bHLHb43
Class B Basic Helix-Loop-Helix Protein 42 3     bHLHe233
BETA42     

External Ids:    HGNC: 160931   Entrez Gene: 1284082   Ensembl: ENSG000001255337   OMIM: 6093315   UniProtKB: Q8NDY63   

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Previous GC identifers: GC20M061110 GC20M058354


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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: BHE23_HUMAN, Q8NDY6
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the BHLHE23 gene promoter:
         NRSF form 1   Pax-2a   MIF-1   NRSF form 2   GATA-1   PPAR-gamma1   Pax-2b   STAT3   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BHLHE23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BHLHE23


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

BHLHE23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BHLHE23 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M061637:  view genomic region     (about GC identifiers)

Start:
61,637,331 bp from pter      End:
61,638,387 bp from pter
Size:
1,057 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BHE23_HUMAN, Q8NDY6 (See protein sequence)
Recommended Name: Class E basic helix-loop-helix protein 23  
Size: 225 amino acids; 23665 Da
Secondary accessions: B2RP69

Explore the universe of human proteins at neXtProt for BHLHE23: NX_Q8NDY6

Explore proteomics data for BHLHE23 at MOPED


See BHLHE23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_542173.2  
ENSEMBL proteins: 
 ENSP00000359371  

BHLHE23 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
bHLH: Basic helix-loop-helix proteins

1 InterPro protein domain:
 IPR011598 bHLH_dom

Graphical View of Domain Structure for InterPro Entry Q8NDY6

ProtoNet protein and cluster: Q8NDY6

1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

UniProtKB/Swiss-Prot: BHE23_HUMAN, Q8NDY6
Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


Find genes that share domains with BHLHE23           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: BHE23_HUMAN, Q8NDY6
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): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding IEA--
GO:0046983protein dimerization activity IEA--
     
Find genes that share ontologies with BHLHE23           About GenesLikeMe


Phenotypes:
     3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bhlhe23):
 cellular  nervous system  vision/eye 

Find genes that share phenotypes with BHLHE23           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Bhlhe23tm1Dbra for BHLHE23

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BHLHE23
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miRNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
BHE23_HUMAN, Q8NDY6: Nucleus (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus4
cytosol2
cytoskeleton1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BHLHE23
Interactions:

    Search GeneGlobe Interaction Network for BHLHE23

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for BHLHE23 (ENSP000003593714) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ID4ENSP000003679724STRING: ENSP00000367972
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Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--
GO:0046548retinal rod cell development IEA--
GO:0046671negative regulation of retinal cell programmed cell death IEA--
GO:0048050post-embryonic eye morphogenesis IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for BHLHE23 (BHE23)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for BHLHE23 gene: 
NM_080606.3  

Unigene Cluster for BHLHE23:

Basic helix-loop-helix family, member e23
Hs.551230
Unigene Representative Sequence: NM_080606
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000370346(uc002yeb.2)
miRNA
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Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BHLHE23
Primer
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  QuantiFast Probe-based Assays in human, mouse, rat BHLHE23

Additional mRNA sequence: 

BC137288.1 BC137308.1 

1 DOTS entry:

DT.91901148 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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BHLHE23 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAGGCGCAGG
BHLHE23 Expression
About this image


BHLHE23 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Eye (Sensory Organs)    fully expand to see all 2 entries
         Rod Bipolar Precursor Cells Inner Nuclear Layer
         Retina
 
 Neurons
         Rod Bipolar Precursor Cells Inner Nuclear Layer
 
 Neural Tube (Nervous System)
         Diencephalon
 
 Brain (Nervous System)
         Thalamus
BHLHE23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BHLHE23 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.551230
    Custom PCR Arrays for BHLHE23
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHLHE23

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for BHLHE23 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Bhlhe231 , 5 basic helix-loop-helix family, member e231, 5 81.91(n)1
83.41(a)1
  2 (103.34 cM)5
1404891  NM_080641.51  NP_542372.21 
 1807743815 
chicken
(Gallus gallus)
Aves BHLHE231 basic helix-loop-helix family, member e23 72.43(n)
67.29(a)
  395165  NM_204504.2  NP_989835.1 
zebrafish
(Danio rerio)
Actinopterygii bhlhe231 basic helix-loop-helix family, member e23 65.54(n)
63.94(a)
  559796  NM_001030133.1  NP_001025304.1 
fruit fly
(Drosophila melanogaster)
Insecta Oli6
Olig family
33(a)
1 → many
2L(17589407-17591267)
worm
(Caenorhabditis elegans)
Secernentea hlh-176
Protein HLH-17 (hlh-17) mRNA, complete cds
52(a)
many ↔ many
IV(16254776-16256263) WBGene00001961


ENSEMBL Gene Tree for BHLHE23 (if available)
TreeFam Gene Tree for BHLHE23 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for BHLHE23 gene
BHLHE222  OLIG32  OLIG12  OLIG22  
4 SIMAP similar genes for BHLHE23 using alignment to 1 protein entry:     BHE23_HUMAN:
OLIG3    BHLHE22    BHLHA15    OLIG2

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for BHLHE23 (see all 43)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs733222551,2
C,F--61636869(+) GCCGGC/TCACGC 1 -- ds50012Minor allele frequency- T:0.05WA 120
rs780074041,2
C,F--61636875(+) CACGCG/ACGTCC 1 -- ds50012Minor allele frequency- A:0.05NA 122
rs1472192741,2
C--61636914(+) AGCAC-/GAAGGG 1 -- ds50010--------
rs1153529411,2
C,F--61637007(+) GCGCCC/TGGGGC 1 -- ds50011Minor allele frequency- T:0.06WA 118
rs130364341,2
C,F,A,H--61637015(+) GGCCAG/AGACCG 1 -- ds500120Minor allele frequency- A:0.16NS EA NA WA 2344
rs1891692761,2
--61637022(+) ACCGCA/CTGTCC 1 -- ds50010--------
rs130420631,2
C,F,A--61637054(+) CTCGCC/TGTGGC 1 -- ds50019Minor allele frequency- T:0.20NA WA CSA EA 370
rs1399210651,2
--61637133(+) CGTTCC/GTAGAC 1 -- ds50010--------
rs48094511,2
C--61637294(+) GGGCCG/CCCTCC 1 -- ds5001 ese3 trp311Minor allele frequency- C:0.02NA WA CSA EA 372
rs2000254911,2
C--61637388(+) GGCCGC/GGGGCC 1 -- ut310--------

HapMap Linkage Disequilibrium report for BHLHE23 (61637331 - 61638387 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for BHLHE23:    About this table    
Variant IDTypeSubtypePubMed ID
nsv834028CNV Loss17160897
dgv4623n71CNV Loss21882294
nsv913073CNV Loss21882294
dgv4622n71CNV Loss21882294
dgv4618n71CNV Loss21882294
nsv913128CNV Loss21882294
dgv4617n71CNV Loss21882294
nsv9825CNV Gain18304495

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing BHLHE23
DNA2.0 Custom Variant and Variant Library Synthesis for BHLHE23

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609331    OMIM disorders: --


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Genetic Association Database (GAD): BHLHE23

Export disorders for BHLHE23 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for BHLHE23 gene integrated from 10 sources:
(articles sorted by number of sources associating them with BHLHE23)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PubMed id 18557763)1, 3 Stevens J.D....Skinner M.K. ( research in biological diversity 2008)
  2. BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary. (PubMed id 11863370)1, 3 Bramblett D.E....Tsai M.J. (Genomics 2002)
  3. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 14516699)1, 2 McLellan A.S.... Kealey T. (Mech. Dev. 2002)
  4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  5. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PubMed id 22219177)4 Tao S....Sun J. (Carcinogenesis 2012)
  6. The transcription factor Bhlhb4 is required for rod bipolar cell maturation. (PubMed id 15363390)1 Bramblett D.E....Tsai M.J. (Neuron 2004)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  8. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 12617822)1 McLellan A.S.... Kealey T. (Gene Expr. Patterns 2002)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  10. NotI flanking sequences: a tool for gene discovery and verification of the human genome. (PubMed id 12136098)1 Kutsenko A.S....Zabarovsky E.R. (Nucleic Acids Res. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 128408 HGNC: 16093 Ensembl:ENSG00000125533 euGenes: HUgn128408 ECgene: BHLHE23
H-InvDB: BHLHE23

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for BHLHE23 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for BHLHE23 gene:
Search GeneIP for patents involving BHLHE23

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for BHLHE23  
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 OriGene MassSpec something-or-other for BHLHE23   OriGene clones in human, mouse for BHLHE23  
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 Block miRNA regulation of human, mouse, rat BHLHE23 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing BHLHE23
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 Browse ESI BIO Cell Lines and PureStem Progenitors for BHLHE23
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BHLHE23
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 Search Addgene for plasmids for BHLHE23
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  Search eBioscience for elisas for BHLHE23
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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