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Aliases for ORMDL3 Gene

Aliases for ORMDL3 Gene

  • ORMDL Sphingolipid Biosynthesis Regulator 3 2 3 5
  • ORM1 (S. Cerevisiae)-Like 3 2
  • ORM1-Like 3 (S. Cerevisiae) 2

External Ids for ORMDL3 Gene

Previous GeneCards Identifiers for ORMDL3 Gene

  • GC17P037421
  • GC17U900023
  • GC17M037987
  • GC17M038452
  • GC17M035330
  • GC17M038077
  • GC17M033871

Summaries for ORMDL3 Gene

GeneCards Summary for ORMDL3 Gene

ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3) is a Protein Coding gene. Diseases associated with ORMDL3 include Retinitis Pigmentosa 26 and Asthma. Among its related pathways are Innate Immune System and Metabolism. An important paralog of this gene is ORMDL1.

UniProtKB/Swiss-Prot for ORMDL3 Gene

  • Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling.

Additional gene information for ORMDL3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ORMDL3 Gene

Genomics for ORMDL3 Gene

GeneHancer (GH) Regulatory Elements for ORMDL3 Gene

Promoters and enhancers for ORMDL3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I039916 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 579.9 +4.3 4262 14.4 MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 ZNF263 SP3 ORMDL3 GSDMB GC17P039921 ENSG00000264968 MED1 SMARCE1 CDK12 GSDMA IKZF3 ERBB2
GH17I039859 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 36.9 +63.2 63202 9.7 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IKZF3 ZPBP2 GSDMB ORMDL3 MED24 GSDMA TMEM99 LRRC3C MSL1 MED1
GH17I039766 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.2 +152.7 152744 17.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 FEZF1 ZNF2 IRF4 ZNF213 FOS IKZF3 GC17P039774 GSDMB MED1 SNORD124 ORMDL3 GSDMA MED24 CDK12 ERBB2
GH17I039753 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.4 +171.0 171037 7.1 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YBX1 IRF4 ZNF766 GSDMB ORMDL3 THRA IKZF3 KRT222 SNORD124 MED24 STARD3 FBXL20 CDK12
GH17I039812 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 21.1 +113.9 113907 2.7 PKNOX1 ZBTB21 MZF1 FEZF1 ZIC2 YY1 ZNF121 GATA3 RXRA ZNF10 GC17P039815 ORMDL3 GSDMB ERBB2 PGAP3 GSDMA IKZF3 FBXL20 CASC3 WIPF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ORMDL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ORMDL3 gene promoter:

Genomic Locations for ORMDL3 Gene

Genomic Locations for ORMDL3 Gene
6,591 bases
Minus strand

Genomic View for ORMDL3 Gene

Genes around ORMDL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORMDL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ORMDL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORMDL3 Gene

Proteins for ORMDL3 Gene

  • Protein details for ORMDL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ORM1-like protein 3
    Protein Accession:
    Secondary Accessions:
    • B3KS83
    • Q6UY83

    Protein attributes for ORMDL3 Gene

    153 amino acids
    Molecular mass:
    17495 Da
    Quaternary structure:
    • Interacts with SPTLC1.
    • 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.

    Alternative splice isoforms for ORMDL3 Gene


neXtProt entry for ORMDL3 Gene

Post-translational modifications for ORMDL3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ORMDL3 Gene

Domains & Families for ORMDL3 Gene

Gene Families for ORMDL3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for ORMDL3 Gene


Suggested Antigen Peptide Sequences for ORMDL3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ORM family.
  • Belongs to the ORM family.
genes like me logo Genes that share domains with ORMDL3: view

Function for ORMDL3 Gene

Molecular function for ORMDL3 Gene

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

Phenotypes From GWAS Catalog for ORMDL3 Gene

Gene Ontology (GO) - Molecular Function for ORMDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20182505
genes like me logo Genes that share ontologies with ORMDL3: view
genes like me logo Genes that share phenotypes with ORMDL3: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ORMDL3 Gene

Localization for ORMDL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORMDL3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ORMDL3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ORMDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 12093374
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ORMDL3: view

Pathways & Interactions for ORMDL3 Gene

genes like me logo Genes that share pathways with ORMDL3: view

Pathways by source for ORMDL3 Gene

Gene Ontology (GO) - Biological Process for ORMDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process IEA,IMP 20182505
GO:0043312 neutrophil degranulation TAS --
GO:0090156 cellular sphingolipid homeostasis IEA,IBA --
GO:1900060 negative regulation of ceramide biosynthetic process IMP 25691431
genes like me logo Genes that share ontologies with ORMDL3: view

No data available for SIGNOR curated interactions for ORMDL3 Gene

Drugs & Compounds for ORMDL3 Gene

No Compound Related Data Available

Transcripts for ORMDL3 Gene

Unigene Clusters for ORMDL3 Gene

ORM1-like 3 (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ORMDL3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: -
SP7: - -

Relevant External Links for ORMDL3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ORMDL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ORMDL3 Gene

mRNA differential expression in normal tissues according to GTEx for ORMDL3 Gene

This gene is overexpressed in Liver (x5.0).

Protein differential expression in normal tissues from HIPED for ORMDL3 Gene

This gene is overexpressed in Bone (10.8) and Plasma (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ORMDL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ORMDL3 Gene:


SOURCE GeneReport for Unigene cluster for ORMDL3 Gene:


mRNA Expression by UniProt/SwissProt for ORMDL3 Gene:

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.

Evidence on tissue expression from TISSUES for ORMDL3 Gene

  • Nervous system(4.5)
  • Intestine(4.4)
  • Lung(2.7)
  • Liver(2)
genes like me logo Genes that share expression patterns with ORMDL3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ORMDL3 Gene

Orthologs for ORMDL3 Gene

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

Orthologs for ORMDL3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ORMDL3 33 34
  • 99.78 (n)
(Monodelphis domestica)
Mammalia ORMDL3 34
  • 98 (a)
(Bos Taurus)
Mammalia ORMDL3 33 34
  • 93.25 (n)
(Canis familiaris)
Mammalia ORMDL3 33 34
  • 92.37 (n)
(Rattus norvegicus)
Mammalia Ormdl3 33
  • 91.07 (n)
(Ornithorhynchus anatinus)
Mammalia ORMDL3 34
  • 90 (a)
(Mus musculus)
Mammalia Ormdl3 33 16 34
  • 88.89 (n)
(Gallus gallus)
Aves ORMDL3 33 34
  • 84.75 (n)
(Anolis carolinensis)
Reptilia ORMDL3 34
  • 91 (a)
(Danio rerio)
Actinopterygii ormdl3 33 34
  • 81.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010566 33
  • 58.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta ORMDL 33 34
  • 56.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL189C 33
  • 55.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORM2 33 34
  • 50.25 (n)
ORM1 34 36
  • 25 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05621g 33
  • 47.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11109 33
  • 50.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.09c 33
  • 48.15 (n)
Species where no ortholog for ORMDL3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ORMDL3 Gene

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

Paralogs for ORMDL3 Gene

Paralogs for ORMDL3 Gene

(2) SIMAP similar genes for ORMDL3 Gene using alignment to 4 proteins: Pseudogenes for ORMDL3 Gene

genes like me logo Genes that share paralogs with ORMDL3: view

Variants for ORMDL3 Gene

Sequence variations from dbSNP and Humsavar for ORMDL3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000912627 -- 39,925,210(-) G/A 5_prime_UTR_variant, intron_variant
rs1001178786 -- 39,926,998(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001261341 -- 39,925,538(-) C/G intron_variant
rs1001268330 -- 39,920,923(-) C/T downstream_transcript_variant
rs1001630188 -- 39,926,700(-) C/T 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ORMDL3 Gene

Variant ID Type Subtype PubMed ID
esv3573064 CNV gain 25503493
nsv1146669 OTHER inversion 26484159

Variation tolerance for ORMDL3 Gene

Residual Variation Intolerance Score: 37.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ORMDL3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORMDL3 Gene

Disorders for ORMDL3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ORMDL3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 26
  • rp26
  • asthma, susceptibility to
bronchial disease
  • bronchospasm
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:18395550, ECO:0000269 PubMed:18760456, ECO:0000269 PubMed:19133921}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for ORMDL3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ORMDL3: view

No data available for Genatlas for ORMDL3 Gene

Publications for ORMDL3 Gene

  1. Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma. (PMID: 19133921) Wu H … London SJ (Allergy 2009) 3 4 22 44 58
  2. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. (PMID: 18760456) Sleiman PM … Hakonarson H (The Journal of allergy and clinical immunology 2008) 3 4 44 58
  3. A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications. (PMID: 18395550) Tavendale R … Palmer CN (The Journal of allergy and clinical immunology 2008) 3 4 44 58
  4. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. (PMID: 17611496) Moffatt MF … Cookson WO (Nature 2007) 3 4 44 58
  5. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. (PMID: 23066021) Siow DL … Wattenberg BW (The Journal of biological chemistry 2012) 2 3 58

Products for ORMDL3 Gene

Sources for ORMDL3 Gene

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