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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BHLHE23 Gene

protein-coding GIFtS: 40
GCID: GC20M061637

basic helix-loop-helix family, member e23

(Previous names: basic helix-loop-helix domain containing, class B, 4 )
(Previous symbol: BHLHB4)

Explore 6 diseases affiliated with
BHLHE23 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Basic Helix-Loop-Helix Family, Member E23¹ ²		Class B Basic Helix-Loop-Helix Protein 4² ³
BHLHB4¹ ² ³ ⁵		Beta4¹
BA305P22.3¹		BETA4²
Basic Helix-Loop-Helix Domain Containing, Class B, 4¹ ²		Class E Basic Helix-Loop-Helix Protein 23²
BHLHe23¹		BHLHb4¹

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

Export aliases for BHLHE23 gene to outside databases

Previous GC identifers: GC20M061110 GC20M058354

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BHLHE23:

Basic helix-loop-helix (bHLH) proteins, such as BHLHB4, are transcriptional regulators.(supplied by OMIM, Jul 2005)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011333.6

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for BHLHE23

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Subcellular location: Nucleus (Probable)

Secondary accessions: B2RP69

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NDY6

BHLHE23 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_542173.1

ENSEMBL proteins:

ENSP00000359371

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

BHLHE23 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BHLHE23 for domains About GeneDecksing

1 InterPro domain/family:

IPR011598 HLH_dom

Graphical View of Domain Structure for InterPro Entry Q8NDY6

ProtoNet protein and cluster: Q8NDY6

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

UniProtKB/Swiss-Prot: BHE23_HUMAN, Q8NDY6

Similarity: Contains 1 bHLH (basic helix-loop-helix) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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)

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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0046983	protein dimerization activity	IEA	--

BHLHE23 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Bhlhe23^tm1Dbra for BHLHE23
     3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Bhlhe23):

cellular

nervous system

vision/eye

BHLHE23 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for BHLHE23

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0046671	negative regulation of retinal cell programmed cell death	IEA	--
GO:0048050	post-embryonic eye morphogenesis	IEA	--

BHLHE23 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BHLHE23
Search CenterWatch for drugs/clinical trials and news about BHLHE23 / BHE23

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

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)

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Additional cDNA 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BHLHE23 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGCGCAGG

About this image

BHLHE23 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Rod Bipolar Precursor Cells

Selective marker (cell-identifying gene)

Bipolar, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BHLHE23 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BHLHE23

SOURCE GeneReport for Unigene cluster: Hs.551230

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In Situ
Assay Products:

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(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BHLHE23 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BHLHE23¹	basic helix-loop-helix family, member e23	74.14(n) 70.56(a)		395165 NM_204504.2 NP_989835.1
zebrafish (Danio rerio)	Actinopterygii	bhlhe23¹	basic helix-loop-helix family, member e23	64.47(n) 63.21(a)		559796 NM_001030133.1 NP_001025304.1
fruit fly (Drosophila melanogaster)	Insecta	Oli⁶	Olig family	30(a)	1 → many	2L(17589407-17591267)
worm (Caenorhabditis elegans)	Secernentea	hlh-17⁶ hlh-32⁶ (see all 3)	Helix Loop Helix family member (hlh-32) (see all 3)	47(a) 46(a) (see all 3)	many ↔ many many ↔ many (see all 3)	IV(16254744-16256231) IV(16132432-16134245)

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)
About This Section

Paralogs for BHLHE23 gene

OLIG3² BHLHE22² OLIG1² OLIG2²

4 SIMAP similar genes for BHLHE23 using alignment to 1 protein entry: BHE23_HUMAN:

OLIG3 BHLHE22 BHLHA15 OLIG2

BHLHE23 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73322255^1,2	C,	--	61636869(+)	`GCCGGC/TCACGC`	1	--	ds500¹		2		WA	120
rs78007404^1,2	C,	--	61636875(+)	`CACGCG/ACGTCC`	1	--	ds500¹		2		NA	122
rs147219274^1,2		--	61636914(+)	`AGCAC-/GAAGGG`	1	--	ds500¹		0	--	--	--	--
rs115352941^1,2	F,	--	61637007(+)	`GCGCCC/TGGGGC`	1	--	ds500¹		1		WA	118
rs13036434^1,2	C,F,A,H,	--	61637015(+)	`GGCCAG/AGACCG`	1	--	ds500¹		20		NS EA NA WA	2344
rs189169276^1,2		--	61637022(+)	`ACCGCA/CTGTCC`	1	--	ds500¹		0	--	--	--	--
rs13042063^1,2	C,F,A,	--	61637054(+)	`CTCGCC/TGTGGC`	1	--	ds500¹		9		NA WA CSA EA	370
rs139921065^1,2		--	61637133(+)	`CGTTCC/GTAGAC`	1	--	ds500¹		0	--	--	--	--
rs4809451^1,2	C,	--	61637294(+)	`GGGCCG/CCCTCC`	1	--	ds500¹ ese³ trp³		11		NA WA CSA EA	372
rs200025491^1,2		--	61637388(+)	`GGCCGC/GGGGCC`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BHLHE23 (61637331 - 61638387 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for BHLHE23
2 CNVs: 31044 5145

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(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.)
About This Section

BHLHE23 for disorders           About GeneDecksing

OMIM gene information: 609331    OMIM disorders: --

6 diseases for BHLHE23:    About MalaCards

congenital stationary night blindness night blindness blindness retinitis

pancreatitis neuronitis

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)
About This Section

PubMed articles for BHLHE23 gene integrated from 9 sources:
(articles sorted by number of sources associating them with BHLHE23)

Utopia: connect your pdf to the dynamic
world of online information

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. (2008)
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. (2002)
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. (2002)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
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. (2004)
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. (2002)
Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 12617822)¹ McLellan A.S.... Kealey T. (2002)
NotI flanking sequences: a tool for gene discovery and verification of the human genome. (PubMed id 12136098)¹ Kutsenko A.S....Zabarovsky E.R. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 128408	HGNC: 16093	Ensembl:ENSG00000125533	euGenes: HUgn128408	ECgene: BHLHE23
H-InvDB: BHLHE23

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BHLHE23	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BHLHE23 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for BHLHE23 gene:
Search GeneIP for patents involving BHLHE23

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BHLHE23
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	GenScript Custom Purified and Recombinant Proteins Services for BHLHE23		GenScript cDNA clones with any tag delivered in your preferred vector for BHLHE23
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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	Regulatory tfbs in BHLHE23 promoter
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	Browse SwitchGear 3'UTR luciferase reporter plasmids for BHLHE23
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ThermoFisher Antibodies for BHLHE23

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BHLHE23

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes BHLHE23 gene at Home site.

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BHLHE23 Gene

basic helix-loop-helix family, member e23

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BHLHE23 Gene

basic helix-loop-helix family, member e23

Aliasesfor BHLHE23 gene

Summariesfor BHLHE23 gene

Genomic Viewsfor BHLHE23 gene

Proteinsfor BHLHE23 gene

Protein Domains /Familiesfor BHLHE23 gene

Functionfor BHLHE23 gene

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Genome Databases showing BHLHE23 gene

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for BHLHE23 gene

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