BHLHE22 Gene
protein-coding GIFtS : 45
GCID: GC08 P065492
basic helix-loop-helix family, member e22 (Previous names: trinucleotide repeat containing 20, basic helix-loop-helix... ) (Previous symbols: TNRC20, BHLHB5 )
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Aliasesfor BHLHE22 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Basic Helix-Loop-Helix Family, Member E22 1 2 BHLHe221 BHLHB51 2 3 5 Class B Basic Helix-Loop-Helix Protein 52 3 TNRC201 2 3 Trinucleotide Repeat-Containing Gene 20 Protein2 3 Beta31 2 Class E Basic Helix-Loop-Helix Protein 222 CAGL851 2 BHLHb51 Basic Helix-Loop-Helix Domain Containing, Class B, 51 2 BETA35 Trinucleotide Repeat Containing 201 2
Export aliases for BHLHE22 gene to outside databases Previous GC identifers: GC08P065656 GC08P060983
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Summariesfor BHLHE22 gene (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 BHLHE22 : BHLHE22 belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. These proteins function as dimers and bind to an E-box DNA sequence (CANNTG). BHLHE22 is expressed exclusively in the central nervous system and retina (Xu et al., 2002 (PubMed 12213201)).(supplied by OMIM, Jul 2010) UniProtKB/Swiss-Prot: BHE22_HUMAN, Q8NFJ8 Function : Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strongrepressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity)
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Genomic Viewsfor BHLHE22 gene
(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_000008.10 NC_018919.1 NT_008183.19 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BHLHE22 gene promoter: GR AP-1 GR-beta ATF-2 Nkx2-5 LCR-F1 SEF-1 (1) STAT3 c-Jun GR-alpha Other transcription factors Search SABiosciences Chromatin IP Primers for BHLHE22 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat BHLHE22
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 8q13 Ensembl cytogenetic band: 8q12.3 HGNC cytogenetic band: 8q12.1 BHLHE22 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 8 GeneLoc Exon Structure
GeneLoc location for GC08P065492: view genomic region
(about GC identifiers )
Start:
65,492,814 bp from pter
End:
65,496,186 bp from pter
Size:
3,373 bases
Orientation:
plus strand
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Proteinsfor BHLHE22 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: BHE22_HUMAN, Q8NFJ8 (See
protein sequence )Recommended Name: Class E basic helix-loop-helix protein 22 Size : 381 amino acids; 36997 Da
Subcellular location : Nucleus (Probable)Explore the universe of human proteins at neXtProt for BHLHE22: NX_Q8NFJ8 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q8NFJ8 BHLHE22 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_689627.1 ENSEMBL proteins: ENSP00000318799 Human Recombinant Protein Products: 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 --
BHLHE22 for ontologies About GeneDecksing BHLHE22 Antibody Products: Assay Products for BHLHE22:
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Protein
Domains / Familiesfor BHLHE22 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
BHLHE22 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q8NFJ8 ProtoNet protein and cluster: Q8NFJ8
1 Blocks protein family : IPB001092 Basic helix-loop-helix dimerization domain bHLH UniProtKB/Swiss-Prot: BHE22_HUMAN, Q8NFJ8 Similarity : Contains 1 bHLH (basic helix-loop-helix) domain
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Functionfor BHLHE22 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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: BHE22_HUMAN, Q8NFJ8 Function : Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strongrepressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity)
Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BHLHE22 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BHLHE22OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: BHLHE22 (NM_152414 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BHLHE22 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BHLHE22
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHLHE22
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
IEA -- GO:0003682 chromatin binding
IEA -- GO:0042803 protein homodimerization activity
IEA --
BHLHE22 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for BHLHE22 :Animal Models: Mouse knock-out Bhlhe22 tm1Meg for BHLHE22 6 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Bhlhe22) :
BHLHE22 for phenotypes About GeneDecksing
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Pathways & Interactionsfor BHLHE22 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 CentralTM Interacting Genes and Proteins Networks for BHLHE22 Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006351 transcription, DNA-dependent
-- -- GO:0021540 corpus callosum morphogenesis
IEA -- GO:0021957 corticospinal tract morphogenesis
IEA -- GO:0021960 anterior commissure morphogenesis
IEA -- GO:0030182 neuron differentiation
-- --
BHLHE22 for ontologies About GeneDecksing
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Drugs & Compoundsfor BHLHE22 gene (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 Tocris compounds for BHLHE22 Search CenterWatch for drugs/clinical trials and news about BHLHE22 / BHE22
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Transcriptsfor BHLHE22 gene (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 ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for BHLHE22 gene: NM_152414.4 Unigene Clusters for BHLHE22:
Basic helix-loop-helix family, member e22 Hs.591870 [show with all ESTs ] , Hs.743680 [show with all ESTs ] Unigene Representative Sequences: BC033056 , NM_152414 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000321870 (uc003xvi.3 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BHLHE22 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BHLHE22OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: BHLHE22 (NM_152414 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BHLHE22 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BHLHE22
Additional cDNA sequence: AK091333.1 AK293979.1
1 DOTS entry : DT.100019098
24/36 AceView cDNA sequences (see all 36 ):
AL134707 BM661603 AW665919 M78885 CA392856 BX116391 AA453786 AI498361 BM689628 AI380496 NM_152414 AA635141 AI804341 BK000273 BX646197 AW594227 BI552771 AA927689 AI968349 AW206610 AA453903 BC045748 AI278054 AI867692 GeneLoc Exon Structure
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Expression for BHLHE22 gene
(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 BHLHE22 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCTGTTTGAC
About this image BHLHE22 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See BHLHE22 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for BHLHE22 SOURCE GeneReport for Unigene clusters: Hs.591870 Hs.743680 UniProtKB/Swiss-Prot: BHE22_HUMAN, Q8NFJ8 Tissue specificity : Brain-specific, with the highest expression in the cerebellum SABiosciences Custom PCR Arrays for BHLHE22 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for BHLHE22Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat BHLHE22 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BHLHE22 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BHLHE22 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHLHE22
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Orthologsfor BHLHE22 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for BHLHE22 gene from 6/12 species (see all 12 ) About this table
ENSEMBL Gene Tree for BHLHE22 (if available)TreeFam Gene Tree for BHLHE22 (if available)
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Paralogsfor BHLHE22 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for BHLHE22 gene OLIG3 2 BHLHE23 2 OLIG1 2 OLIG2 2 2 SIMAP similar genes for BHLHE22 using alignment to 1 protein entry: BHE22_HUMAN :BHLHE23 TWIST1
BHLHE22 for paralogs About GeneDecksing
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Genomic Variantsfor BHLHE22 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 8 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for BHLHE22 (65492814 - 65496186 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for BHLHE22: --
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing BHLHE22
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Disorders
/ Diseasesfor BHLHE22 gene
(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
BHLHE22 for disorders About GeneDecksing
OMIM gene information: 613483
OMIM disorders : --2 diseases for BHLHE22 : About MalaCards retinitis neuronitis Export disorders for BHLHE22 gene to outside databases
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Publicationsfor BHLHE22 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for BHLHE22 gene integrated from 9 sources : (articles sorted by number of sources associating them with BHLHE22) Utopia : connect your pdf to the dynamic world of online information
Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor. (PubMed id 12213201) 1 , 2 , 3, 9 Xu Z.-P....Saunders G.F. (2002) 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) 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) cDNAs with long CAG trinucleotide repeats from human brain. (PubMed id 9225980) 1 , 3 Margolis R.L.... Ross C.A. (1997) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 Ota T.... Sugano S. (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)
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External Searches for BHLHE22 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing BHLHE22 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing BHLHE22 gene
(According to HUGE )
About This Section --
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Specialized Databases showing BHLHE22 gene (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 BHLHE22 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for BHLHE22 gene: Search GeneIP for patents involving BHLHE22 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor BHLHE22 gene (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 ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies Browse OriGene shRNA RFPs OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for BHLHE22 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for BHLHE22 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for BHLHE22 OriGene 3'-UTR Clone for BHLHE22 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BHLHE22 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BHLHE22 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for BHLHE22 OriGene Custom Protein Services for BHLHE22 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BHLHE22 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing BHLHE22 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat BHLHE22 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat BHLHE22 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BHLHE22 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BHLHE22
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BHLHE22 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHLHE22
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BHLHE22
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Aliases for BHLHE22
Databases for BHLHE22
Disorders / Diseases for BHLHE22
Domains / Families for BHLHE22
Drugs / Compounds for BHLHE22
Expression for BHLHE22
Function for BHLHE22
Genomic Views for BHLHE22
Intellectual Property for BHLHE22
Orthologs for BHLHE22
Paralogs for BHLHE22
Pathways / Interactions for BHLHE22
Products for BHLHE22
Proteins for BHLHE22
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Summaries for BHLHE22
Transcripts for BHLHE22
Variants for BHLHE22
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