Human Gene ORMDL2 (uc001shw.1)
  Description: ORMDL2
Transcript (Including UTRs)
   Position: hg18 chr12:54,498,073-54,501,226 Size: 3,154 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg18 chr12:54,499,051-54,500,446 Size: 1,396 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Model InformationMethods
Data last updated at UCSC: 2009-03-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:54,498,073-54,501,226)mRNA (may differ from genome)Protein (153 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDMGIOMIM
PubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ORML2_HUMAN
DESCRIPTION: RecName: Full=ORM1-like protein 2; AltName: Full=Adoplin-2;
FUNCTION: Negative regulator of sphingolipid synthesis.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
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.
SIMILARITY: Belongs to the ORM family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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Affymetrix All Exon Microarrays

           
Ratios

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.7092-0.366 Picture PostScript Text
3' UTR -226.48780-0.290 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007203 - ORMDL

Pfam Domains:
PF04061 - ORMDL family

ModBase Predicted Comparative 3D Structure on Q53FV1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
  Ensembl  SGD
  Protein Sequence  Protein Sequence
  Alignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006672 ceramide metabolic process
GO:0090155 negative regulation of sphingolipid biosynthetic process
GO:0090156 cellular sphingolipid homeostasis
GO:1900060 negative regulation of ceramide biosynthetic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035339 SPOTS complex


-  Descriptions from all associated GenBank mRNAs
  AF395707 - Homo sapiens clone IMAGE:2364281 ORMDL2 mRNA, complete cds.
AK314046 - Homo sapiens cDNA, FLJ94709, Homo sapiens ORM1-like 2 (S. cerevisiae) (ORMDL2), mRNA.
AF173375 - Homo sapiens MSTP095 (MST095) mRNA, complete cds.
AF161509 - Homo sapiens HSPC160 mRNA, complete cds.
AK223180 - Homo sapiens mRNA for ORMDL2 variant, clone: PNC02963.
AF395706 - Homo sapiens clone IMAGE:221470 ORMDL2 mRNA, complete cds.
AB064961 - Homo sapiens mRNA for adoplin-2, complete cds.
BC012543 - Homo sapiens ORM1-like 2 (S. cerevisiae), mRNA (cDNA clone MGC:13351 IMAGE:4272865), complete cds.
EU831830 - Synthetic construct Homo sapiens clone HAIB:100066859; DKFZo004A0722 ORM1-like 2 (S. cerevisiae) protein (ORMDL2) gene, encodes complete protein.
EU831753 - Synthetic construct Homo sapiens clone HAIB:100066782; DKFZo008A0721 ORM1-like 2 (S. cerevisiae) protein (ORMDL2) gene, encodes complete protein.
AF395705 - Homo sapiens clone IMAGE:212500 ORMDL2 mRNA, complete cds.
JD509058 - Sequence 490082 from Patent EP1572962.
JD358339 - Sequence 339363 from Patent EP1572962.
JD526903 - Sequence 507927 from Patent EP1572962.
JD420729 - Sequence 401753 from Patent EP1572962.
JD486191 - Sequence 467215 from Patent EP1572962.
JD372217 - Sequence 353241 from Patent EP1572962.
JD514375 - Sequence 495399 from Patent EP1572962.
JD521951 - Sequence 502975 from Patent EP1572962.
KJ898716 - Synthetic construct Homo sapiens clone ccsbBroadEn_08110 ORMDL2 gene, encodes complete protein.
JD323909 - Sequence 304933 from Patent EP1572962.
JD324898 - Sequence 305922 from Patent EP1572962.
JD042624 - Sequence 23648 from Patent EP1572962.
JD274443 - Sequence 255467 from Patent EP1572962.
JD019049 - Sequence 73 from Patent EP1572962.
JD034245 - Sequence 15269 from Patent EP1572962.
JD301587 - Sequence 282611 from Patent EP1572962.
JD050079 - Sequence 31103 from Patent EP1572962.
JD253311 - Sequence 234335 from Patent EP1572962.
JD087715 - Sequence 68739 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: HSPC160, MSTP095, NM_014182, NP_054901, ORML2_HUMAN, Q53FV1, Q7Z4E5, Q8NFX0, Q9P004
UCSC ID: uc001shw.1
RefSeq Accession: NM_014182
Protein: Q53FV1 (aka ORML2_HUMAN)
CCDS: CCDS8893.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014182.4
exon count: 4CDS single in 3' UTR: no RNA size: 1361
ORF size: 462CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1113.00frame shift in genome: no % Coverage: 98.02
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.