ORMDL2 Gene
protein-coding GIFtS: 47
GCID: GC12P056211
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ORM1-like 2 (S. cerevisiae)(Previous name: ORM1 (S. cerevisiae)-like 2 )
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Aliases
for ORMDL2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ORM1-Like 2 (S. Cerevisiae)1 2 | | ORM1 (S. Cerevisiae)-Like 21 | | MST0951 2 | | Expressed In Normal Aorta2 | | MSTP0951 2 | | ORM1-Like Protein 22 | | Adoplin-23 | | Adoplin-23 | | HSPC1601 | | |
Export aliases for ORMDL2 gene to outside databasesPrevious GC identifers: GC12P056308 GC12P056433 GC12P055928 GC12P054498 GC12P054499 GC12P053250 |
Summaries
for ORMDL2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: ORML2_HUMAN, Q53FV1Function: Negative regulator of sphingolipid synthesis
|
Genomic Views
for ORMDL2 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_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ORMDL2 gene promoter:
NF-1 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) CUTL1 POU3F2 CREB deltaCREB FOXJ2 (long isoform) FOXJ2 ITF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for ORMDL2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ORMDL2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13.2 Ensembl cytogenetic band: 12q13.2 HGNC cytogenetic band: 12q13.2ORMDL2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P056211: view genomic region
(about GC identifiers)
Start:
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56,211,703 bp from pter |
End:
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56,215,663 bp from pter |
Size:
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3,961 bases |
Orientation:
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plus strand |
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Proteins
for ORMDL2 gene
(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: ORML2_HUMAN, Q53FV1 (See
protein sequence)Recommended Name: ORM1-like protein 2 Size: 153 amino acids; 17363 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: B2RA58 Q7Z4E5 Q8NFX0 Q9P004Explore the universe of human proteins at neXtProt for ORMDL2: NX_Q53FV1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q53FV1
ORMDL2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_054901.1
ENSEMBL proteins: ENSP00000243045 ENSP00000447834 ENSP00000449461 ENSP00000448788
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
ORMDL2 for ontologies About GeneDecksing
ORMDL2 Antibody Products:
Assay Products for ORMDL2: |
Protein
Domains /
Families
for ORMDL2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ORMDL2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q53FV1ProtoNet protein and cluster: Q53FV1 1 Blocks protein family: IPB007203 ORMDL
UniProtKB/Swiss-Prot: ORML2_HUMAN, Q53FV1Similarity: Belongs to the ORM family |
Function
for ORMDL2 gene
(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: ORML2_HUMAN, Q53FV1Function: Negative regulator of sphingolipid synthesis
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 ORMDL2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ORMDL2 (NM_014182) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ORMDL2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORMDL2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL2 |
|
Pathways & Interactions
for ORMDL2 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 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 CentralTM Interacting Genes and Proteins Networks for ORMDL2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/6 Interacting proteins for ORMDL2 (ENSP000002430454) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006672 | ceramide metabolic process |
IMP | -- |
ORMDL2 for ontologies About GeneDecksing
|
Drugs & Compounds
for ORMDL2 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 ORMDL2
Search CenterWatch for drugs/clinical trials and news about ORMDL2 / ORML2
|
Transcripts
for ORMDL2 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 ORMDL2 gene: NM_014182.4 Unigene Cluster for ORMDL2: ORM1-like 2 (S. cerevisiae) Hs.534450 [show with all ESTs]Unigene Representative Sequence: NM_0141825 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000243045(uc001shw.1) ENST00000552672 ENST00000550836 ENST00000548974
ENST00000546645
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ORMDL2 (NM_014182) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ORMDL2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORMDL2 |
Additional cDNA sequence: AB064961.1 AF161509.1 AF173375.1 AF395705.1 AF395706.1 AF395707.1 AK223180.1 AK314046.1 BC012543.2 15 DOTS entries: DT.117451 DT.101981677 DT.92423366 DT.95094391 DT.100759695 DT.92423934 DT.100826919 DT.121194810 DT.86847588 DT.100024168 DT.100826920 DT.100826915 DT.92423363 DT.100647426 DT.100826913 24/187 AceView cDNA sequences (see all 187): AL046863 AA397987 AW025440 H93473 N51801 BF149174 AL046862 AF161509 CB159236 BM504243 CA307933 BU685093 AI017335 AI074224 BV179310 AA937741 CD675296 AI582631 CA424231 CR621685 AW452472 AA652715 AI202094 AI288177
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for ORMDL2 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c |
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| SP1: | | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | - | | - | | | | | | | | | |
ECgene alternative splicing isoforms for ORMDL2
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Expression
for ORMDL2 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
| ORMDL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGAAGGCAC
About this image
See ORMDL2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ORMDL2
SOURCE GeneReport for Unigene cluster: Hs.534450
UniProtKB/Swiss-Prot: ORML2_HUMAN, Q53FV1Tissue specificity: Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle andkidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus
SABiosciences Custom PCR Arrays for ORMDL2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ORMDL2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ORMDL2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ORMDL2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ORMDL2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL2 |
Orthologs
for ORMDL2 gene
(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 eukaryotes.
Orthologs for ORMDL2 gene from 9/28 species (see all 28) About this table
ENSEMBL Gene Tree for ORMDL2 (if available)
TreeFam Gene Tree for ORMDL2 (if available) |
Paralogs
for ORMDL2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ORMDL2 gene
- ORMDL12 ORMDL32
2 SIMAP similar genes for ORMDL2 using alignment to 3 protein entries: ORML2_HUMAN (see all proteins):ORMDL1 ORMDL3
ORMDL2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ORMDL2
PGOHUM00000249436
|
Genomic Variants
for ORMDL2 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ORMDL2 (56211703 - 56215663 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ORMDL2
1 Indel: 66233 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ORMDL2 |
|
Disorders
/ Diseases
for ORMDL2 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
|
 ORMDL2 for disorders About MalaCards
ORMDL2 for disorders About GeneDecksing
OMIM gene information: 610074
OMIM disorders: --
Export disorders for ORMDL2 gene to outside databases
|
Publications
for ORMDL2 gene (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 ORMDL2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ORMDL2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. (PubMed id 12093374)1, 2, 3 Hjelmqvist L....Gonzalez-Duarte R. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
- A family of membrane proteins associated with presenilin expression and gamma-secretase function. (PubMed id 17928364)2, 9 Araki W....Tabira T. (2008)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
- Orm family proteins mediate sphingolipid homeostasis. (PubMed id 20182505)2 Breslow D.K....Weissman J.S. (2010)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 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)
- Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)
|
External Searches for ORMDL2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ORMDL2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ORMDL2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ORMDL2 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 ORMDL2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for ORMDL2 gene:
Search GeneIP for patents involving ORMDL2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ORMDL2 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 ORMDL2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ORMDL2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ORMDL2 | | | OriGene Protein Over-expression Lysate for ORMDL2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ORMDL2 | | OriGene 3'-UTR Clone for ORMDL2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL2 | | | 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 | | | OriGene Purified Protein for ORMDL2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ORMDL2 | | OriGene Custom Protein Services for ORMDL2 | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ORMDL2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ORMDL2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ORMDL2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ORMDL2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ORMDL2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ORMDL2 |
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| | | | Search Tocris compounds for ORMDL2 |
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 | | | ORMDL2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL2 |
|  |  |  | | | | ThermoFisher Antibodies for ORMDL2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORMDL2 |
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