ATOH7 Gene
protein-coding GIFtS : 50
GCID: GC10 M069990
atonal homolog 7 (Drosophila)
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Aliasesfor ATOH7 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 Atonal Homolog 7 (Drosophila) 1 2 Protein Atonal Homolog 72 BHLHa131 ATH53 Math51 2 BHLHA133 Class A Basic Helix-Loop-Helix Protein 132 3 HATH51 Helix-Loop-Helix Protein HATH-52 3
Export aliases for ATOH7 gene to outside databases Previous GC identifers: GC10M068802 GC10M069077 GC10M069882 GC10M069335 GC10M069334 GC10M069660 GC10M063990
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Summariesfor ATOH7 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 ATOH7 : This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. (provided by RefSeq, Dec 2011) UniProtKB/Swiss-Prot: ATOH7_HUMAN, Q8N100 Function : Transcription factor involved in the differentiation of retinal ganglion cells (By similarity)
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Genomic Viewsfor ATOH7 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_000010.10 NC_018921.1 NT_030059.13 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ATOH7 gene promoter: USF1 RP58 NF-E2 p45 Tal-1beta SRY HOXA5 ITF-2 NF-E2 Other transcription factors Search SABiosciences Chromatin IP Primers for ATOH7 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ATOH7
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 10q21.3|10q21.3-q22.1 Ensembl cytogenetic band: 10q21.3 HGNC cytogenetic band: 10q22.2 ATOH7 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 10 GeneLoc Exon Structure
GeneLoc location for GC10M069990: view genomic region
(about GC identifiers )
Start:
69,990,381 bp from pter
End:
69,991,871 bp from pter
Size:
1,491 bases
Orientation:
minus strand
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Proteinsfor ATOH7 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: ATOH7_HUMAN, Q8N100 (See
protein sequence )Recommended Name: Protein atonal homolog 7 Size : 152 amino acids; 16871 Da
Subcellular location : Nucleus (Probable)Explore the universe of human proteins at neXtProt for ATOH7: NX_Q8N100 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q8N100 ATOH7 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_660161.1 ENSEMBL proteins: ENSP00000362777 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 --
ATOH7 for ontologies About GeneDecksing ATOH7 Antibody Products: Assay Products for ATOH7:
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Protein
Domains / Familiesfor ATOH7 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ATOH7 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q8N100 ProtoNet protein and cluster: Q8N100
1 Blocks protein family : IPB001092 Basic helix-loop-helix dimerization domain bHLH UniProtKB/Swiss-Prot: ATOH7_HUMAN, Q8N100 Similarity : Contains 1 bHLH (basic helix-loop-helix) domain
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Functionfor ATOH7 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: ATOH7_HUMAN, Q8N100 Function : Transcription factor involved in the differentiation of retinal ganglion cells (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 ATOH7 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ATOH7OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ATOH7 (NM_145178 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATOH7 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ATOH7
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATOH7
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 --
ATOH7 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for ATOH7 :Animal Models: 7 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Atoh7) :
ATOH7 for phenotypes About GeneDecksing
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Pathways & Interactionsfor ATOH7 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 Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Transcription factors in neurogenesis
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for ATOH7
ATOH7 for pathways About GeneDecksing Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATOH7 Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006351 transcription, DNA-dependent
IEA -- GO:0006355 regulation of transcription, DNA-dependent
IEA -- GO:0007399 nervous system development
IEA -- GO:0007623 circadian rhythm
IEA -- GO:0009649 entrainment of circadian clock
IEA --
ATOH7 for ontologies About GeneDecksing
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Drugs & Compoundsfor ATOH7 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 ATOH7 Search CenterWatch for drugs/clinical trials and news about ATOH7
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Transcriptsfor ATOH7 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 ATOH7 gene: NM_145178.3 Unigene Cluster for ATOH7:
Atonal homolog 7 (Drosophila) Hs.737072 [show with all ESTs ] Unigene Representative Sequence: NM_145178 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000373673 (uc001jnq.3 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ATOH7 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ATOH7OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ATOH7 (NM_145178 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATOH7 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ATOH7
Additional cDNA sequence: AB593108.1 AB593109.1 BC032621.1
1 DOTS entry : DT.97784371
7 AceView cDNA sequences :
NM_145178 BK000277 BM474709 BC032621 AI799665 H05728 BU151599 GeneLoc Exon Structure
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Expression for ATOH7 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 ATOH7 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGTATCGGTG
About this image ATOH7 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See ATOH7 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ATOH7 SOURCE GeneReport for Unigene cluster: Hs.737072 SABiosciences Custom PCR Arrays for ATOH7 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ATOH7Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ATOH7 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ATOH7 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ATOH7 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATOH7
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Orthologsfor ATOH7 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 animals.
Orthologs for ATOH7 gene from 6/18 species (see all 18 ) About this table
ENSEMBL Gene Tree for ATOH7 (if available)TreeFam Gene Tree for ATOH7 (if available)
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Paralogsfor ATOH7 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ATOH7 gene NEUROG3 2 FERD3L 2 NEUROD2 2 NEUROD1 2 NEUROD6 2 ATOH1 2 NEUROG2 2 BHLHA15 2 PTF1A 2 NEUROG1 2 NEUROD4 2 8 SIMAP similar genes for ATOH7 using alignment to 2 protein entries: ATOH7_HUMAN (see all proteins ):ATOH1 TAL2 NEUROD2 NEUROD6 NEUROD4 TCF15 SCXA SCXB
ATOH7 for paralogs About GeneDecksing
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Genomic Variantsfor ATOH7 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 10 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ATOH7 (69990381 - 69991871 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ATOH7: -- Human Gene Mutation Database (HGMD) : ATOH7 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ATOH7
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Disorders
/ Diseasesfor ATOH7 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
ATOH7 for disorders About GeneDecksing
OMIM gene information: 609875
OMIM disorders : --UniProtKB/Swiss-Prot: ATOH7_HUMAN, Q8N100
Defects in ATOH7 are the cause of retinal non-attachment congenital non-syndromic (RNANC) [MIM:221900]. A condition characterized by separation of the inner layers of the retina (neural retina) from the pigment epithelium. Clinical findings include lack of perception of light, massive retrolental mass, shallow anterior chamber, and nystagmus in otherwise normal individuals. Note=RNANC is caused by a 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 5 diseases for ATOH7 : About MalaCards retinal nonattachment retinitis nystagmus glaucoma neuronitis 1 disease from the University of Copenhagen DISEASES database for ATOH7 :Glaucoma Human Genome Epidemiology (HuGE) Navigator: ATOH7 (4 documents) Export disorders for ATOH7 gene to outside databases
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Publicationsfor ATOH7 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 ATOH7 gene, integrated from 9 sources (see all 16 ): (articles sorted by number of sources associating them with ATOH7) Utopia : connect your pdf to the dynamic world of online information
Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development. (PubMed id 11889557) 1 , 2 , 3, 9 Brown N.L.... Glaser T. (2002) Deletion of a remote enhancer near ATOH7 disrupts ret inal neurogenesis, causing NCRNA disease. (PubMed id 21441919) 1 , 2 Ghiasvand N.M....Glaser T. (2011) 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) Next generation sequencing identifies mutations in Ato nal homolog 7 (ATOH7) in families with global eye developmental defects. (PubMed id 22068589) 1 Khan K....Ali M. (2012) Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma. (PubMed id 22222511) 1 Chen J.H....Zhang M. (2012) ATOH7 mutations cause autosomal recessive persistent h yperplasia of the primary vitreous. (PubMed id 22645276) 1 Prasov L....Glaser T. (2012) Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133) 1 Oshikawa M.... Kato S. (2011) Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. (PubMed id 21307088) 1 Khor C.C....Aung T. (2011) Common genetic variants associated with open-angle gl aucoma. (PubMed id 21427129) 1 Ramdas W.D....van Duijn C.M. (2011) Focus on Molecules: Math5 and retinal ganglion cells. (PubMed id 22019371) 1 Sapkota D....Mu X. (2011)
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External Searches for ATOH7 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ATOH7 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 ATOH7 gene
(According to HUGE )
About This Section --
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Specialized Databases showing ATOH7 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 ATOH7 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for ATOH7 gene: Search GeneIP for patents involving ATOH7 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ATOH7 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 OriGene shRNA RFP for ATOH7 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ATOH7 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ATOH7 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ATOH7 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ATOH7 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ATOH7 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 ATOH7 OriGene Custom Protein Services for ATOH7 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATOH7 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ATOH7 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ATOH7 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ATOH7 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ATOH7 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ATOH7
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ATOH7 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATOH7
Search ThermoFisher Antibodies for ATOH7
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ATOH7
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