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HES3 Gene

protein-coding   GIFtS: 40
GCID: GC01P006304

Hes Family BHLH Transcription Factor 3

(Previous name: hairy and enhancer of split 3 (Drosophila))
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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
Hes Family BHLH Transcription Factor 31 2     Hairy And Enhancer Of Split 3 (Drosophila)1
Class B Basic Helix-Loop-Helix Protein 432 3     Transcription Factor HES-32
Hairy And Enhancer Of Split 32 3     BHLHB433
bHLHb432 3     

External Ids:    HGNC: 262261   Entrez Gene: 3909922   Ensembl: ENSG000001736737   OMIM: 6099715   UniProtKB: Q5TGS13   

Export aliases for HES3 gene to outside databases

Previous GC identifers: GC01P006237 GC01P005452


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HES3 Gene:
HES3 (hes family bHLH transcription factor 3) is a protein-coding gene. GO annotations related to this gene include protein dimerization activity and transcription factor binding.

UniProtKB/Swiss-Prot: HES3_HUMAN, Q5TGS1
Function: Transcriptional repressor of genes that require a bHLH protein for their transcription (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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the HES3 gene promoter:
         Max1   NRSF form 1   ARP-1   STAT3   NRSF form 2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHES3 promoter sequence
   Search Chromatin IP Primers for HES3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HES3


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

Entrez Gene cytogenetic band: 1p36.31   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36.31

HES3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HES3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P006304:  view genomic region     (about GC identifiers)

Start:
6,304,252 bp from pter      End:
6,305,638 bp from pter
Size:
1,387 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HES3_HUMAN, Q5TGS1 (See protein sequence)
Recommended Name: Transcription factor HES-3  
Size: 186 amino acids; 19968 Da
Subunit: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE
family (By similarity)
Sequence caution: Sequence=CAI19439.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5TGS0

Explore the universe of human proteins at neXtProt for HES3: NX_Q5TGS1

Explore proteomics data for HES3 at MOPED


See HES3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001019769.1  
ENSEMBL proteins: 
 ENSP00000367130  

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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 Q5TGS1

ProtoNet protein and cluster: Q5TGS1

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

UniProtKB/Swiss-Prot: HES3_HUMAN, Q5TGS1
Domain: Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box
(CACNAG), rather than the canonical E-box (CANNTG)
Domain: The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with
Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related
proteins (By similarity)
Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
Similarity: Contains 1 Orange domain


Find genes that share domains with HES3           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: HES3_HUMAN, Q5TGS1
Function: Transcriptional repressor of genes that require a bHLH protein for their transcription (By similarity)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding IEA--
GO:0008134transcription factor binding NAS17611704
GO:0046983protein dimerization activity IEA--
     
Find genes that share ontologies with HES3           About GenesLikeMe


Phenotypes:
     6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hes3):
 cellular  embryogenesis  growth/size/body  mortality/aging  nervous system 
 normal 

Find genes that share phenotypes with HES3           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for HES3

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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
HES3_HUMAN, Q5TGS1: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3

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

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

Find genes that share ontologies with HES3           About GenesLikeMe


(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 HES3
Interactions:

    Search GeneGlobe Interaction Network for HES3

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

Selected Interacting proteins for HES3 (ENSP000003671304) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
InteractantInteraction Details
GeneCardExternal ID(s)
ACOT7ENSP000003670864STRING: ENSP00000367086
ALDH1L1ENSP000003770834STRING: ENSP00000377083
ATPIF1ENSP000003352034STRING: ENSP00000335203
CRYZENSP000003393994STRING: ENSP00000339399
ENSG00000225073ENSP000004003264STRING: ENSP00000400326
About this table

Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
GO:0001701in utero embryonic development IEA--
GO:0006351transcription, DNA-templated IEA--
GO:0021555midbrain-hindbrain boundary morphogenesis IEA--
GO:0021557oculomotor nerve development IEA--

Find genes that share ontologies with HES3           About GenesLikeMe



(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 drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HES3



(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 HES3 gene: 
NM_001024598.3  

Unigene Cluster for HES3:

Hairy and enhancer of split 3 (Drosophila)
Hs.532677  [show with all ESTs]
Unigene Representative Sequence: CX762307
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000377898(uc009vly.2)
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1 DOTS entry:

DT.102837123 

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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HES3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACAGCGCCG
HES3 Expression
About this image


HES3 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Brain (Nervous System)    fully expand to see all 2 entries
         Cerebral Cortex
 
 Neural Tube (Nervous System)
         Telencephalon
HES3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HES3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.532677
    Custom PCR Arrays for HES3
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for HES3 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Hes31 , 5 hairy and enhancer of split 3 (Drosophila)1, 5 74.48(n)1
68.57(a)1
  4 (83.01 cM)5
152071  NM_008237.41  NP_032263.21 
 1522859725 
tropical clawed frog
(Xenopus tropicalis)
Amphibia hes31 hairy and enhancer of split 3 (Drosophila) 66.28(n)
70.11(a)
  100494165  XM_004916189.1  XP_004916246.1 
zebrafish
(Danio rerio)
Actinopterygii her36
hairy-related 3
27(a)
1 ↔ 1
8(48790624-48791866) ENSDARG00000076857


ENSEMBL Gene Tree for HES3 (if available)
TreeFam Gene Tree for HES3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HES3 gene
2 SIMAP similar genes for HES3 using alignment to 1 protein entry:     HES3_HUMAN:
HES1    HES4

Find genes that share paralogs with HES3           About GenesLikeMe



(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 HES3 (see all 72)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1482065661,2
--6302304(+) GAGGAC/TAAATT 1 -- us2k10--------
rs66949551,2
C,A,H--6302510(+) GCCCCC/TTTTGT 1 -- us2k14Minor allele frequency- T:0.13NS NA 244
rs1852584551,2
--6303101(+) CTGGAA/GGTCAG 1 -- us2k10--------
rs1901553091,2
--6303238(+) CCGCCA/GTAGTC 1 -- us2k10--------
rs1144547721,2
C,F--6303319(+) TGGTCT/CCCTGC 1 -- us2k11Minor allele frequency- C:0.03WA 118
rs1427404371,2
--6303340(+) TGTGCA/GTGGAG 1 -- us2k10--------
rs1469669871,2
--6303345(+) GTGGAA/GCTGAG 1 -- us2k10--------
rs1380307971,2
--6303371(+) GTAGAC/TTTCTA 1 -- us2k10--------
rs726325721,2
C,F--6303383(+) TGCTTC/TTCCAT 1 -- us2k11Minor allele frequency- T:0.03NA 120
rs1150279021,2
F--6303438(+) GGCTGT/GAAGGA 1 -- us2k11Minor allele frequency- G:0.02WA 118

HapMap Linkage Disequilibrium report for HES3 (6304252 - 6305638 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for HES3 (see all 15):    About this table    
Variant IDTypeSubtypePubMed ID
nsv508825CNV Insertion20534489
nsv871698CNV Loss21882294
dgv124n71CNV Loss21882294
nsv871646CNV Loss21882294
dgv121n71CNV Loss21882294
dgv120n71CNV Loss21882294
nsv871266CNV Loss21882294
dgv122n71CNV Loss21882294
nsv870945CNV Loss21882294
dgv123n71CNV Loss21882294

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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.)
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OMIM gene information: 609971    OMIM disorders: --

1 disease from the University of Copenhagen DISEASES database for HES3:
Hypospadias

Find genes that share disorders with HES3           About GenesLikeMe


Export disorders for HES3 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 HES3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with HES3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  2. Identification and characterization of human HES2, HES3, and HES5 genes in silico. (PubMed id 15254753)1, 2 Katoh M. and Katoh M. (Int. J. Oncol. 2004)
  3. Hes3 regulates cell number in cultures from glioblastoma multiforme with stem cell characteristics. (PubMed id 23393614)1 Park D.M....Androutsellis-Theotokis A. (Sci Rep 2013)
  4. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. (PubMed id 18162467)1 Fukami M.... Ogata T. (J. Biol. Chem. 2008)
  5. Integrative genomic analyses on HES/HEY family: Notch-independent HES1, HES3 transcription in undifferentiated ES cells, and Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal tissues, adult tissues, or cancer. (PubMed id 17611704)1 Katoh M. and Katoh M. (Int. J. Oncol. 2007)
  6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)

(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: 390992 HGNC: 26226 Ensembl:ENSG00000173673 euGenes: HUgn390992 ECgene: HES3
H-InvDB: HES3

(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 HES3 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 HES3 gene:
Search GeneIP for patents involving HES3

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, 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 genOway)
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 Block miRNA regulation of human, mouse, rat HES3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing HES3
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 QuantiFast Probe-based Assays in human, mouse, rat HES3 QuantiTect SYBR Green Assays in human, mouse, rat HES3
 Custom PCR Arrays for HES3 Search Chromatin IP Primers for HES3
 Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HES3  Search GeneGlobe Interaction Network for HES3
 Regulatory tfbs in HES3 promoter
 GenScript Custom Purified and Recombinant Proteins Services for HES3 GenScript cDNA clones with any tag delivered in your preferred vector for HES3
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 CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
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 Search Tocris compounds for HES3
 Browse Sino Biological Proteins
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 Search Sino Biological for antibodies, proteins & pathways
 Protein Production Services
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 See all of Abcam's Antibodies, Kits and Proteins for HES3
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 Browse ProSpec Recombinant Proteins
 Proteins for HES3
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 Browse ESI BIO Cell Lines and PureStem Progenitors for HES3
 Gene Synthesis
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES3
 Browse SwitchGear 3'UTR luciferase reporter plasmids for HES3
 SwitchGear Promoter luciferase reporter plasmids for HES3
 Search ThermoFisher Antibodies for HES3
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HES3
 Browse compounds at ApexBio
 Search Addgene for plasmids for HES3
  Search eBioscience for proteins for HES3
  Search eBioscience for elisas for HES3
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for HES3
 antibodies-online antibodies for HES3 (13 products)
 antibodies-online kits for HES3 (6 products)
  Search antibodies-online for peptides for HES3
 antibodies-online proteins for HES3
       
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 , 7 Oct 2014

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