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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ORMDL2 Gene

protein-coding   GIFtS: 46
GCID: GC12P056211

ORM1-Like 2 (S. Cerevisiae)

(Previous name: ORM1 (S. cerevisiae)-like 2)
  Search for ORMDL2
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

Aliases
ORM1-Like 2 (S. Cerevisiae)1 2     adoplin-22
ORM1 (S. Cerevisiae)-Like 21     Expressed In Normal Aorta2
MST0952     ORM1-Like Protein 22
MSTP0952     Adoplin-23

External Ids:    HGNC: 160371   Entrez Gene: 290952   Ensembl: ENSG000001233537   OMIM: 6100745   UniProtKB: Q53FV13   

Export aliases for ORMDL2 gene to outside databases

Previous GC identifers: GC12P056308 GC12P056433 GC12P055928 GC12P054498 GC12P054499 GC12P053250


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

GeneCards Summary for ORMDL2 Gene: 
ORMDL2 (ORM1-like 2 (S. cerevisiae)) is a protein-coding gene. An important paralog of this gene is ORMDL1.

UniProtKB/Swiss-Prot: ORML2_HUMAN, Q53FV1
Function: Negative regulator of sphingolipid synthesis




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  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

SwitchGear Promoter luciferase reporter plasmidORMDL2 promoter sequence
   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: 12q13.2

ORMDL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ORMDL2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P056211:  view genomic region     (about GC identifiers)

Start:
56,211,703 bp from pter      End:
56,215,663 bp from pter
Size:
3,961 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 Q9P004

Explore the universe of human proteins at neXtProt for ORMDL2: NX_Q53FV1

Explore proteomics data for ORMDL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53FV1

  • ORMDL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ORMDL2 Protein Expression
    REFSEQ proteins: NP_054901.1  
    ENSEMBL proteins: 
     ENSP00000243045   ENSP00000447834   ENSP00000449461   ENSP00000448788  

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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for ORMDL2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA12093374
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--

    ORMDL2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007203 ORMDL

    Graphical View of Domain Structure for InterPro Entry Q53FV1

    ProtoNet protein and cluster: Q53FV1

    1 Blocks protein domain: IPB007203 ORMDL

    UniProtKB/Swiss-Prot: ORML2_HUMAN, Q53FV1
    Similarity: Belongs to the ORM family


    ORMDL2 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ORML2_HUMAN, Q53FV1
    Function: Negative regulator of sphingolipid synthesis

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ORMDL2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ORMDL2 
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    SwitchGear 3'UTR luciferase reporter plasmidORMDL2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    SACM1LENSP000003737134STRING: ENSP00000373713
    SPTLC1ENSP000002625544STRING: ENSP00000262554
    SPTLC2ENSP000002164844STRING: ENSP00000216484
    SPTLC3ENSP000003819684STRING: ENSP00000381968
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    ORMDL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ORMDL2 (ORML2)

    Search CenterWatch for drugs/clinical trials and news about ORMDL2 / ORML2

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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_014182
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000243045(uc001shw.1) ENST00000552672 ENST00000550836 ENST00000548974
    ENST00000546645
    miRNA
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    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate ORMDL2 (see all 22):
    hsa-miR-3149 hsa-miR-582-3p hsa-miR-3128 hsa-miR-579 hsa-miR-642a hsa-miR-1262 hsa-miR-141* hsa-miR-649
    SwitchGear 3'UTR luciferase reporter plasmidORMDL2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Additional mRNA sequence: 

    AB064961.1 AF161509.1 AF173375.1 AF395705.1 AF395706.1 AF395707.1 AK223180.1 AK314046.1 
    BC012543.2 

    16 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  DT.121194805 

    24/187 AceView cDNA sequences (see all 187):

    CA307933 BF149174 AI582631 AW452472 AI288177 N51801 BM562842 BM991687 
    AW025440 AL046863 CB159236 AA179188 CA424231 AF161509 AA652715 BU685093 
    H93473 AA937741 AA397987 AI017335 BM504243 BV179310 AI202094 AL046862 

    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
    SP1:                                                
    SP2:              -                                 
    SP3:              -     -                           


    ECgene alternative splicing isoforms for ORMDL2

    (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 <intensity>2/3
    CGAP TAG: GGGAAGGCAC
    ORMDL2 Expression
    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, Q53FV1
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ORMDL2 gene from 9/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ormdl21 , 5 ORM1-like 2 (S. cerevisiae)1, 5 90.63(n)1
    97.39(a)1
      10 (77.16 cM)5
    668441  NM_024180.51  NP_077142.11 
     1288174575 
    chicken
    (Gallus gallus)
    Aves ORMDL21 ORM1-like 2 (S. cerevisiae) 79.96(n)
    86.93(a)
      425059  NM_001031325.1  NP_001026496.1 
    lizard
    (Anolis carolinensis)
    Reptilia ORMDL26
    Uncharacterized protein
    86(a)
    1 ↔ 1
    GL343198.1(2935178-2943327)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.241712 Xenopus laevis transcribed sequence with moderate similarity more 78.91(n)    BJ094098.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ormdl21 ORM1-like 2 (S. cerevisiae) 76.47(n)
    86.93(a)
      677753  NM_001040048.1  NP_001035137.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ORMDL3   -- 50(a)   78E1   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ORM11 Orm1p 42.65(n)
    36.03(a)
      852926   NP_011552.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G420001 ORMDL domain-containing protein 49.88(n)
    40.56(a)
      834205  NM_123565.3  NP_199015.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g04525001 hypothetical protein 52.45(n)
    44.06(a)
      4343133  NM_001066086.1  NP_001059551.1 


    ENSEMBL Gene Tree for ORMDL2 (if available)
    TreeFam Gene Tree for ORMDL2 (if available)

    (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


    (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) 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

    10/16 SNPs in ORMDL2 are shown (see all 16)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350555731,2
    C,F,H--56213760(+) CTGGAA/GTAGTT 1 -- int14Minor allele frequency- G:0.02NS NA 182
    rs1454687681,2
    --56213824(+) AAGAGC/TAGGGC 1 -- int10--------
    rs2001044361,2
    C--56213978(+) AAAAA-/AGAATA 1 -- int10--------
    rs761494241,2
    C--56214040(+) TCTCCC/TCAGCT 1 -- int10--------
    rs1457124981,2
    F--56214073(+) CAAGTA/GTGATG 2 Y C mis11Minor allele frequency- G:0.00NA 4552
    rs1454573041,2
    C,F--56214080(+) GATGCT/AGCGCA 2 /A syn12Minor allele frequency- A:0.00NA EU 5875
    rs2016301361,2
    --56214109(+) CTCATC/TGCTAA 2 S L mis10--------
    rs1932206541,2
    C--56214153(+) GGGTTC/TGTGTC 2 R C mis10--------
    rs1458945011,2
    C--56214184(+) AGGGAC/TGGGTT 1 -- ut310--------
    rs3679610351,2
    ----56214083(+) GCTGCA/GCACTT 2 A syn10--------

    HapMap Linkage Disequilibrium report for ORMDL2 (56211703 - 56215663 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ORMDL2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv22731CNV Loss19812545
    nsv832423CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ORMDL2 for disorders           About MalaCards
    OMIM gene information: 610074    OMIM disorders: --


    ORMDL2 for disorders           About GeneDecksing


    Export disorders for ORMDL2 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

    PubMed articles for ORMDL2 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ORMDL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. (PubMed id 12093374)1, 2, 3 Hjelmqvist L....Gonzalez-Duarte R. (2002)
    2. 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)
    3. 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)
    4. A family of membrane proteins associated with presenilin expression and gamma-secretase function. (PubMed id 17928364)2, 9 Araki W....Tabira T. (2008)
    5. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. (PubMed id 23066021)1 Siow D.L. and Wattenberg B.W. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. 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)
    8. Orm family proteins mediate sphingolipid homeostasis. (PubMed id 20182505)2 Breslow D.K....Weissman J.S. (2010)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29095 HGNC: 16037 AceView: ORMDL2 Ensembl:ENSG00000123353 euGenes: HUgn29095
    ECgene: ORMDL2 H-InvDB: ORMDL2

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for ORMDL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ORMDL2 gene:
    Search GeneIP for patents involving ORMDL2

    GeneCards and IP:
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    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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