Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ORMDL3 Gene

protein-coding   GIFtS: 55
GCID: GC17M038077

ORM1-Like 3 (S. Cerevisiae)

(Previous name: ORM1 (S. cerevisiae)-like 3)
  See ORMDL3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
ORM1-Like 3 (S. Cerevisiae)1 2
ORM1 (S. Cerevisiae)-Like 31
ORM1-Like Protein 32

External Ids:    HGNC: 160381   Entrez Gene: 941032   Ensembl: ENSG000001720577   OMIM: 6100755   UniProtKB: Q8N1383   

Export aliases for ORMDL3 gene to outside databases

Previous GC identifers: GC17P037421 GC17U900023 GC17M037987 GC17M038452 GC17M035330 GC17M033871


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

TryGeneCards Plus

GeneCards Summary for ORMDL3 Gene:
ORMDL3 (ORM1-like 3 (S. cerevisiae)) is a protein-coding gene. Diseases associated with ORMDL3 include hfe-associated hereditary hemochromatosis, and primary biliary cirrhosis. An important paralog of this gene is ORMDL1.

UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138
Function: Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated
Ca(+2) signaling




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ORMDL3 gene promoter:
         COUP-TF1   C/EBPbeta   COUP   HNF-4alpha2   AP-4   LCR-F1   HNF-4alpha1   c-Ets-1   COUP-TF   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidORMDL3 promoter sequence
   Search Chromatin IP Primers for ORMDL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ORMDL3


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

ORMDL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ORMDL3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M038077:  view genomic region     (about GC identifiers)

Start:
38,077,294 bp from pter      End:
38,083,884 bp from pter
Size:
6,591 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138 (See protein sequence)
Recommended Name: ORM1-like protein 3  
Size: 153 amino acids; 17495 Da
Subunit: Interacts with SPTLC1
Miscellaneous: SNPs on 17q21 locus that are associated with childhood asthma also show a consistent and strong
association with transcript levels of ORMDL3, indicating that genetic variants regulating ORMDL3 expression are
determinants of susceptibility to childhood asthma
Secondary accessions: B3KS83 Q6UY83
Alternative splicing: 2 isoforms:  Q8N138-1   Q8N138-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ORMDL3: NX_Q8N138

Explore proteomics data for ORMDL3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys79, Lys152
  • Modification sites at PhosphoSitePlus

  • See ORMDL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_644809.1  
    ENSEMBL proteins: 
     ENSP00000304858   ENSP00000464693   ENSP00000462961   ENSP00000377724   ENSP00000464455  
     ENSP00000464298  

    ORMDL3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ORMDL3
    OriGene Protein Over-expression Lysate for ORMDL3
    OriGene MassSpec for ORMDL3
    OriGene Custom Protein Services for ORMDL3
    GenScript Custom Purified and Recombinant Proteins Services for ORMDL3
    Novus Biologicals ORMDL3 Protein
    Novus Biologicals ORMDL3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ORMDL3

     
    Search eBioscience for Proteins for ORMDL3 

    ORMDL3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ORMDL3
    Novus Biologicals ORMDL3 Antibody
    Abcam antibodies for ORMDL3
    Cloud-Clone Corp. Antibodies for ORMDL3
    ThermoFisher Antibodies for ORMDL3
    LSBio Antibodies in human, mouse, rat for ORMDL3

    ORMDL3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ORMDL3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ORMDL3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ORMDL3
    Cloud-Clone Corp. CLIAs for ORMDL3
    Search eBioscience for ELISAs for ORMDL3 


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

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR007203 ORMDL

    Graphical View of Domain Structure for InterPro Entry Q8N138

    ProtoNet protein and cluster: Q8N138

    1 Blocks protein domain: IPB007203 ORMDL

    UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138
    Similarity: Belongs to the ORM family


    Find genes that share domains with ORMDL3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ORML3_HUMAN, Q8N138
    Function: Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated
    Ca(+2) signaling

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with ORMDL3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ORMDL3:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ORMDL3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ORMDL3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ORMDL3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ORMDL3

    miRNA
    Products:
        
    miRTarBase miRNAs that target ORMDL3:
    hsa-mir-20a-5p (MIRT050551)

    Block miRNA regulation of human, mouse, rat ORMDL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ORMDL3 (see all 50):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-429 hsa-miR-106a hsa-miR-449a hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidORMDL3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ORMDL3
    Predesigned siRNA for gene silencing in human, mouse, rat ORMDL3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ORMDL3

    Clone
    Products:
         
    OriGene clones in human, mouse for ORMDL3 (see all 7)
    OriGene ORF clones in mouse, rat for ORMDL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ORMDL3 (NM_139280)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ORMDL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORMDL3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ORMDL3
    Browse ESI BIO Cell Lines and PureStem Progenitors for ORMDL3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ORML3_HUMAN, Q8N138: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion2
    plasma membrane2
    cytoskeleton1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA12093374
    GO:0016021integral component of membrane IEA--
    GO:0035339SPOTS complex IDA--

    Find genes that share ontologies with ORMDL3           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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ORMDL3
    Interactions:

        Search GeneGlobe Interaction Network for ORMDL3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for ORMDL3 (Q8N1382, 3 ENSP000003048584) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPTLC1O152693, ENSP000002625544I2D: score=1 STRING: ENSP00000262554
    GTF2H1P327803I2D: score=5 
    EEF1A1P681043I2D: score=3 
    SPTSSAENSP000002981304STRING: ENSP00000298130
    SPTSSBENSP000003520974STRING: ENSP00000352097
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006672ceramide metabolic process IMP--

    Find genes that share ontologies with ORMDL3           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ORMDL3 (ORML3)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ORMDL3 gene: 
    NM_139280.2  

    Unigene Cluster for ORMDL3:

    ORM1-like 3 (S. cerevisiae)
    Hs.514151  [show with all ESTs]
    Unigene Representative Sequence: AK093063
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304046(uc002htj.2) ENST00000579695(uc002htk.2) ENST00000579287
    ENST00000581284 ENST00000394169(uc002hti.1) ENST00000584220 ENST00000584000
    ENST00000582052
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ORMDL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ORMDL3 (see all 50):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-429 hsa-miR-106a hsa-miR-449a hsa-miR-372 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidORMDL3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ORMDL3
    Predesigned siRNA for gene silencing in human, mouse, rat ORMDL3
    Clone
    Products:
         
    OriGene clones in human, mouse for ORMDL3 (see all 7)
    OriGene ORF clones in mouse, rat for ORMDL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ORMDL3 (NM_139280)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ORMDL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORMDL3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ORMDL3
    OriGene qSTAR qPCR primer pairs in human, mouse for ORMDL3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ORMDL3
      QuantiTect SYBR Green Assays in human, mouse, rat ORMDL3
      QuantiFast Probe-based Assays in human, mouse, rat ORMDL3

    Additional mRNA sequence: 

    AF151043.1 AF373101.1 AF373102.1 AF395708.1 AJ308027.1 AK074811.1 AK075212.1 AK093063.1 
    AY357943.1 BC000638.1 BC017087.1 BC018837.1 BC050710.1 BC054042.1 BC071833.1 

    6 DOTS entries:

    DT.75123827  DT.99960637  DT.101983962  DT.120892836  DT.40230348  DT.95172328 

    Selected AceView cDNA sequences (see all 324):

    AW089705 AK093063 BC017087 CA488045 CF264907 BG831510 BP872262 C02557 
    AF258572 AF119884 AW961240 BE073479 AX775843 CF264690 AA777585 BX113199 
    BM712955 AF373101 N38810 AA877684 CD674264 AW074190 NM_018530 BX479594 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ORMDL3 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9
    SP1:                                                                                                            
    SP2:                    -     -     -     -                                                                     
    SP3:                    -     -     -     -                                                                     
    SP4:                    -     -     -     -                                                                     
    SP5:                          -     -     -                                                                     


    ECgene alternative splicing isoforms for ORMDL3

    (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)
    About This Section

    TryGeneCards Plus

    ORMDL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCTGTTAA
    ORMDL3 Expression
    About this image

    ORMDL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ORMDL3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514151

    UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138
    Tissue specificity: Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and
    kidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus

        Custom PCR Arrays for ORMDL3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ORMDL3
    OriGene qSTAR qPCR primer pairs in human, mouse for ORMDL3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ORMDL3
    QuantiTect SYBR Green Assays in human, mouse, rat ORMDL3
    QuantiFast Probe-based Assays in human, mouse, rat ORMDL3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL3

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ORMDL3 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ormdl31 , 5 ORM1-like 3 (S. cerevisiae)1, 5 88.89(n)1
    96.73(a)1
      11 (62.07 cM)5
    666121  NM_025661.41  NP_079937.11 
     985812565 
    chicken
    (Gallus gallus)
    Aves ORMDL31 ORM1-like 3 (S. cerevisiae) 84.75(n)
    92.81(a)
      426131  XM_003642808.2  XP_003642856.1 
    lizard
    (Anolis carolinensis)
    Reptilia ORMDL36
    ORM1-like 3 (S. cerevisiae)
    91(a)
    1 ↔ 1
    6(68783671-68836788)
    zebrafish
    (Danio rerio)
    Actinopterygii ormdl31 ORM1-like 3 (S. cerevisiae) 81.92(n)
    92.16(a)
      450067  NM_001006087.1  NP_001006087.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ORMDL1 ORMDL 56.58(n)
    50(a)
      40404  NM_168929.2  NP_730669.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ORM1(YGR038W)4
    ORM21
    Evolutionarily conserved protein, similar to Orm2p, more4
    ORM21
    50.25(n)1
    41.04(a)1
      7(560682-561350)4
    8510641  NP_013454.11  8529264 
     NP_011552.14 


    ENSEMBL Gene Tree for ORMDL3 (if available)
    TreeFam Gene Tree for ORMDL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ORMDL3 gene
    ORMDL12  ORMDL22  
    2 SIMAP similar genes for ORMDL3 using alignment to 4 protein entries:     ORML3_HUMAN (see all proteins):
    ORMDL1    ORMDL2

    Find genes that share paralogs with ORMDL3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ORMDL3
    PGOHUM00000238349


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ORMDL3 (see all 182)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1122609321,2
    C,F--38077185(+) CCTCCC/TGCCAC 1 -- int12Minor allele frequency- T:0.50NA 4
    rs1902534681,2
    --38077190(+) TGCCAA/CCGTCA 1 -- int10--------
    rs1458098341,2
    C--38077298(+) GGAAAC/GAGAAA 1 -- ut310--------
    rs10446751,2
    H--38077332(-) GTATTC/TTGAGA 1 -- ut31 ese37Minor allele frequency- T:0.05MN NS EA NA 606
    rs1417120281,2
    --38077366(+) ATTCAC/TACTTT 1 -- ut310--------
    rs31695721,2
    C,F,H--38077412(-) CACCCC/TGTGTA 1 -- ut31 ese313Minor allele frequency- T:0.02MN NS EA NA 1562
    rs22788941,2
    C,F,H--38077423(+) GGAGAT/CGCAGG 1 -- ut31 ese311Minor allele frequency- C:0.03EA NA NS 2154
    rs1469585761,2
    C--38077426(+) GATGCA/GGGGTC 1 -- ut310--------
    rs79421,2
    C,F,H--38077464(+) TCTCCC/TGTTCC 1 -- ut3128Minor allele frequency- G:0.00EA NA MN NS WA CSA 1321
    rs769863941,2
    C--38077477(+) TGGACC/TCCTGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ORMDL3 (38077294 - 38083884 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ORMDL3: --
    Human Gene Mutation Database (HGMD): ORMDL3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ORMDL3
    DNA2.0 Custom Variant and Variant Library Synthesis for ORMDL3

    (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

    TryGeneCards Plus
    OMIM gene information: 610075    OMIM disorders: --

    UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138
  • Asthma (ASTHMA) [MIM:600807]: The most common chronic disease affecting children and young adults. It is
    a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many
    genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal
    dyspnea, with wheezing due to spasmodic contraction of the bronchi. Note=Disease susceptibility is associated
    with variations affecting the gene represented in this entry

  • 2 diseases for ORMDL3:    
    About MalaCards
    hfe-associated hereditary hemochromatosis    primary biliary cirrhosis

    1 disease from the University of Copenhagen DISEASES database for ORMDL3:
    Asthma

    Find genes that share disorders with ORMDL3           About GenesLikeMe

    Genetic Association Database (GAD): ORMDL3
    Human Genome Epidemiology (HuGE) Navigator: ORMDL3 (18 documents)

    Export disorders for ORMDL3 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

    TryGeneCards Plus

    PubMed articles for ORMDL3 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with ORMDL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma. (PubMed id 19133921)1, 2, 4, 9 Wu H....London S.J. (Allergy 2009)
    2. A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications. (PubMed id 18395550)1, 2, 4 Tavendale R.... Palmer C.N. (J. Allergy Clin. Immunol. 2008)
    3. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. (PubMed id 18760456)1, 2, 4 Sleiman P.M.... Hakonarson H. (J. Allergy Clin. Immunol. 2008)
    4. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. (PubMed id 17611496)1, 2, 4 Moffatt M.F.... Cookson W.O. (Nature 2007)
    5. Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia. (PubMed id 21150878)1, 4 Ferreira M.A....Martin N.G. (Eur. J. Hum. Genet. 2011)
    6. Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. (PubMed id 20601676)1, 4 Fransen K....Weersma R.K. (Hum. Mol. Genet. 2010)
    7. A sequence variant on 17q21 is associated with age at onset and severity of asthma. (PubMed id 20372189)1, 4 Halapi E....Stefansson K. (Eur. J. Hum. Genet. 2010)
    8. Analyses of shared genetic factors between asthma and obesity in children. (PubMed id 20816195)1, 4 MelAcn E....Lasky-Su J. (J. Allergy Clin. Immunol. 2010)
    9. Orm family proteins mediate sphingolipid homeostasis. (PubMed id 20182505)1, 2 Breslow D.K.... Weissman J.S. (Nature 2010)
    10. A large-scale, consortium-based genomewide association study of asthma. (PubMed id 20860503)1, 4 Moffatt M.F....Cookson W.O. (N. Engl. J. Med. 2010)

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

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 94103 HGNC: 16038 AceView: GSDMLandORMDL3 Ensembl:ENSG00000172057 euGenes: HUgn94103
    ECgene: ORMDL3 H-InvDB: ORMDL3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ORMDL3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ORMDL3 gene:
    Search GeneIP for patents involving ORMDL3

    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, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ORMDL3  
     OriGene qPCR primer pairs and template standards for ORMDL3   OriGene Protein Over-expression Lysate for ORMDL3  
     OriGene MassSpec something-or-other for ORMDL3   OriGene clones in human, mouse for ORMDL3  
     OriGene qSTAR qPCR primer pairs in human, mouse for ORMDL3   OriGene Purified Protein for ORMDL3  
     OriGene ORF clones in mouse, rat for ORMDL3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ORMDL3   OriGene Custom Protein Services for ORMDL3  

     
     
     Block miRNA regulation of human, mouse, rat ORMDL3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ORMDL3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ORMDL3 Predesigned siRNA for gene silencing in human, mouse, rat ORMDL3
     QuantiFast Probe-based Assays in human, mouse, rat ORMDL3 QuantiTect SYBR Green Assays in human, mouse, rat ORMDL3
     Custom PCR Arrays for ORMDL3 Search Chromatin IP Primers for ORMDL3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ORMDL3  Search GeneGlobe Interaction Network for ORMDL3
     Regulatory tfbs in ORMDL3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ORMDL3 GenScript cDNA clones with any tag delivered in your preferred vector for ORMDL3
     GenScript Custom Assay Services for ORMDL3 GenScript Custom overexpressing Cell Line Services for ORMDL3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ORMDL3 (ORML3)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ORMDL3 antibodies
     ORMDL3 proteins
     ORMDL3 lysates
     Antibodies for ORMDL3
     See all of Abcam's Antibodies, Kits and Proteins for ORMDL3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ORMDL3
     Antibodies for ORMDL3
     ELISAs for ORMDL3
     CLIAs for ORMDL3



     Browse ESI BIO Cell Lines and PureStem Progenitors for ORMDL3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL3
     SwitchGear 3'UTR luciferase reporter plasmids for ORMDL3
     SwitchGear Promoter luciferase reporter plasmids for ORMDL3
     ThermoFisher Antibodies for ORMDL3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORMDL3
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ORMDL3
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ORMDL3
     LSBio Antibodies in human, mouse, rat for ORMDL3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for ORMDL3
      Search eBioscience for proteins for ORMDL3
      Search eBioscience for elisas for ORMDL3
      eBioscience FlowRNA Probe Sets
           
    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

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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 


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

    Hot genes      Disease genes      ORMDL3 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4