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Aliases for ORMDL2 Gene

Aliases for ORMDL2 Gene

  • ORMDL Sphingolipid Biosynthesis Regulator 2 2 3 5
  • Adoplin-2 3 4
  • ORM1 (S. Cerevisiae)-Like 2 2
  • ORM1-Like 2 (S. Cerevisiae) 2
  • Expressed In Normal Aorta 3
  • HSPC160 3
  • MSTP095 3
  • MST095 3

External Ids for ORMDL2 Gene

Previous GeneCards Identifiers for ORMDL2 Gene

  • GC12P056308
  • GC12P056433
  • GC12P055928
  • GC12P054498
  • GC12P054499
  • GC12P056211
  • GC12P053250

Summaries for ORMDL2 Gene

GeneCards Summary for ORMDL2 Gene

ORMDL2 (ORMDL Sphingolipid Biosynthesis Regulator 2) is a Protein Coding gene. An important paralog of this gene is ORMDL3.

UniProtKB/Swiss-Prot for ORMDL2 Gene

  • Negative regulator of sphingolipid synthesis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ORMDL2 Gene

Genomics for ORMDL2 Gene

Regulatory Elements for ORMDL2 Gene

Promoters for ORMDL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ORMDL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ORMDL2 Gene

Chromosome:
12
Start:
55,817,919 bp from pter
End:
55,821,879 bp from pter
Size:
3,961 bases
Orientation:
Plus strand

Genomic View for ORMDL2 Gene

Genes around ORMDL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORMDL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ORMDL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORMDL2 Gene

Proteins for ORMDL2 Gene

  • Protein details for ORMDL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53FV1-ORML2_HUMAN
    Recommended name:
    ORM1-like protein 2
    Protein Accession:
    Q53FV1
    Secondary Accessions:
    • B2RA58
    • Q7Z4E5
    • Q8NFX0
    • Q9P004

    Protein attributes for ORMDL2 Gene

    Size:
    153 amino acids
    Molecular mass:
    17363 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ORMDL2 Gene

Proteomics data for ORMDL2 Gene at MOPED

Post-translational modifications for ORMDL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ORMDL2 Gene

No data available for DME Specific Peptides for ORMDL2 Gene

Domains & Families for ORMDL2 Gene

Protein Domains for ORMDL2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ORMDL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53FV1

UniProtKB/Swiss-Prot:

ORML2_HUMAN :
  • Belongs to the ORM family.
Family:
  • Belongs to the ORM family.
genes like me logo Genes that share domains with ORMDL2: view

No data available for Gene Families for ORMDL2 Gene

Function for ORMDL2 Gene

Molecular function for ORMDL2 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of sphingolipid synthesis.

Phenotypes for ORMDL2 Gene

GenomeRNAi human phenotypes for ORMDL2:
genes like me logo Genes that share phenotypes with ORMDL2: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ORMDL2 Gene

Localization for ORMDL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORMDL2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ORMDL2 Gene COMPARTMENTS Subcellular localization image for ORMDL2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ORMDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ORMDL2: view

Pathways & Interactions for ORMDL2 Gene

SuperPathways for ORMDL2 Gene

No Data Available

Interacting Proteins for ORMDL2 Gene

Gene Ontology (GO) - Biological Process for ORMDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process IMP 20182505
genes like me logo Genes that share ontologies with ORMDL2: view

No data available for Pathways by source and SIGNOR curated interactions for ORMDL2 Gene

Drugs & Compounds for ORMDL2 Gene

No Compound Related Data Available

Transcripts for ORMDL2 Gene

Unigene Clusters for ORMDL2 Gene

ORM1-like 2 (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ORMDL2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
SP1:
SP2: -
SP3: - -

Relevant External Links for ORMDL2 Gene

GeneLoc Exon Structure for
ORMDL2
ECgene alternative splicing isoforms for
ORMDL2

Expression for ORMDL2 Gene

mRNA expression in normal human tissues for ORMDL2 Gene

Protein differential expression in normal tissues from HIPED for ORMDL2 Gene

This gene is overexpressed in Placenta (29.3), Fetal testis (15.5), and Lung (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ORMDL2 Gene



SOURCE GeneReport for Unigene cluster for ORMDL2 Gene Hs.534450

mRNA Expression by UniProt/SwissProt for ORMDL2 Gene

Q53FV1-ORML2_HUMAN
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.
genes like me logo Genes that share expression patterns with ORMDL2: view

Protein tissue co-expression partners for ORMDL2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ORMDL2 Gene

Orthologs for ORMDL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ORMDL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ORMDL2 36
  • 99 (a)
OneToOne
ORMDL2 35
  • 99.56 (n)
  • 99.35 (a)
cow
(Bos Taurus)
Mammalia ORMDL2 36
  • 97 (a)
OneToOne
ORMDL2 35
  • 93.25 (n)
  • 97.39 (a)
dog
(Canis familiaris)
Mammalia ORMDL2 35
  • 93.46 (n)
  • 97.39 (a)
-- 36
  • 97 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ormdl2 36
  • 97 (a)
OneToOne
Ormdl2 16
Ormdl2 35
  • 90.63 (n)
  • 97.39 (a)
rat
(Rattus norvegicus)
Mammalia Ormdl2 35
  • 90.2 (n)
  • 97.39 (a)
lizard
(Anolis carolinensis)
Reptilia ORMDL2 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24171 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ormdl2 35
  • 79.52 (n)
  • 90.2 (a)
zebrafish
(Danio rerio)
Actinopterygii ormdl2 36
  • 87 (a)
OneToOne
ormdl2 35
  • 76.47 (n)
  • 86.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta ORMDL 37
  • 50 (a)
ORMDL 36
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORM1 36
  • 24 (a)
ManyToMany
ORM2 36
  • 27 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G01230 35
  • 51.02 (n)
  • 40.82 (a)
rice
(Oryza sativa)
Liliopsida Os07g0452500 35
  • 52.45 (n)
  • 44.06 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4417 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToMany
Species with no ortholog for ORMDL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ORMDL2 Gene

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

Paralogs for ORMDL2 Gene

Paralogs for ORMDL2 Gene

(2) SIMAP similar genes for ORMDL2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for ORMDL2 Gene

genes like me logo Genes that share paralogs with ORMDL2: view

Variants for ORMDL2 Gene

Sequence variations from dbSNP and Humsavar for ORMDL2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs145457304 -- 55,820,296(+) GATGC(A/T)GCGCA reference, synonymous-codon
rs145468768 -- 55,820,040(+) AAGAG(C/T)AGGGC intron-variant
rs193220654 -- 55,820,369(+) GGGTT(C/T)GTGTC reference, missense
rs367961035 -- 55,820,299(+) GCTGC(A/G)CACTT reference, synonymous-codon
rs375352682 -- 55,820,419(+) GCTCC(A/T)TGGGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ORMDL2 Gene

Variant ID Type Subtype PubMed ID
nsv832423 CNV Gain 17160897
esv22731 CNV Loss 19812545

Variation tolerance for ORMDL2 Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ORMDL2 Gene

HapMap Linkage Disequilibrium report
ORMDL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORMDL2 Gene

Disorders for ORMDL2 Gene

Relevant External Links for ORMDL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ORMDL2

No disorders were found for ORMDL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ORMDL2 Gene

Publications for ORMDL2 Gene

  1. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. (PMID: 12093374) Hjelmqvist L. … Gonzalez-Duarte R. (Genome Biol. 2002) 2 3 4 67
  2. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. (PMID: 23066021) Siow D.L. … Wattenberg B.W. (J. Biol. Chem. 2012) 2 3
  3. Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells. (PMID: 25395622) Gupta S.D. … Harmon J.M. (J. Biol. Chem. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Orm family proteins mediate sphingolipid homeostasis. (PMID: 20182505) Breslow D.K. … Weissman J.S. (Nature 2010) 3

Products for ORMDL2 Gene

Sources for ORMDL2 Gene

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