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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.

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

Regulatory Elements for ORMDL3 Gene

Enhancers for ORMDL3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G039859 1.6 Ensembl ENCODE dbSUPER 36.8 +63.2 63203 9.7 HDGF PKNOX1 FOXA2 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 GSDMB ORMDL3 GSDMA TMEM99 LRRC3C ENSG00000266469 MED1 PGAP3 PIR51928 IKZF3
GH17G039916 1.7 FANTOM5 ENCODE dbSUPER 29.9 +4.3 4263 14.4 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ORMDL3 GSDMB ENSG00000264968 MED1 ENSG00000266469 CDK12 GSDMA IKZF3 ERBB2 GC17P039921
GH17G039753 2 FANTOM5 Ensembl ENCODE dbSUPER 20.4 +171.0 171037 7.1 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF766 ZNF143 GSDMB ORMDL3 THRA IKZF3 KRT222 MED24 STARD3 FBXL20 CDK12 WIPF2
GH17G039766 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.2 +152.7 152744 17.2 HDGF PKNOX1 FOXA2 WRNIP1 SIN3A FEZF1 ZNF2 CBX5 FOS SP3 GSDMB ENSG00000266469 MED1 ORMDL3 GSDMA CDK12 ERBB2 MIEN1 GRB7 SNORA21
GH17G039812 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.1 +113.9 113907 2.7 PKNOX1 ZBTB21 ZNF10 FEZF1 ZBTB8A ZIC2 ZNF843 YY1 ZNF121 GATA3 ORMDL3 GSDMB PGAP3 ERBB2 GSDMA IKZF3 FBXL20 CASC3 WIPF2 CDK12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ORMDL3 on UCSC Golden Path with GeneCards custom track

Promoters for ORMDL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094005 131 1401 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for ORMDL3 Gene

Chromosome:
17
Start:
39,921,041 bp from pter
End:
39,927,631 bp from pter
Size:
6,591 bases
Orientation:
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:
    Q8N138-ORML3_HUMAN
    Recommended name:
    ORM1-like protein 3
    Protein Accession:
    Q8N138
    Secondary Accessions:
    • B3KS83
    • Q6UY83

    Protein attributes for ORMDL3 Gene

    Size:
    153 amino acids
    Molecular mass:
    17495 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for ORMDL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ORMDL3 Gene

Post-translational modifications for ORMDL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ORMDL3 Gene

Domains & Families for ORMDL3 Gene

Protein Domains for ORMDL3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ORMDL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N138

UniProtKB/Swiss-Prot:

ORML3_HUMAN :
  • Belongs to the ORM family.
Family:
  • Belongs to the ORM family.
genes like me logo Genes that share domains with ORMDL3: view

No data available for Gene Families for ORMDL3 Gene

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.

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

  • Taconic Biosciences Mouse Models for ORMDL3

CRISPR Products

Inhibitory RNA 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

COMPARTMENTS
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

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

Interacting Proteins for ORMDL3 Gene

Gene Ontology (GO) - Biological Process for ORMDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process IMP,IEA 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:

CRISPR Products

Inhibitory RNA Products

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
SP1:
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: -
SP7: - -

Relevant External Links for ORMDL3 Gene

GeneLoc Exon Structure for
ORMDL3
ECgene alternative splicing isoforms for
ORMDL3

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:

ORMDL3

SOURCE GeneReport for Unigene cluster for ORMDL3 Gene:

Hs.514151

mRNA Expression by UniProt/SwissProt for ORMDL3 Gene:

Q8N138-ORML3_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.

Evidence on tissue expression from TISSUES for ORMDL3 Gene

  • Nervous system(4.5)
  • Intestine(4.4)
  • Lung(2.6)
  • Liver(2)
genes like me logo Genes that share expression patterns with ORMDL3: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ORMDL3 34 35
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia ORMDL3 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ORMDL3 34 35
  • 93.25 (n)
dog
(Canis familiaris)
Mammalia ORMDL3 34 35
  • 92.37 (n)
rat
(Rattus norvegicus)
Mammalia Ormdl3 34
  • 91.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ORMDL3 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ormdl3 34 16 35
  • 88.89 (n)
chicken
(Gallus gallus)
Aves ORMDL3 34 35
  • 84.75 (n)
lizard
(Anolis carolinensis)
Reptilia ORMDL3 35
  • 91 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ormdl3 34 35
  • 81.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010566 34
  • 58.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta ORMDL 34 35
  • 56.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL189C 34
  • 55.15 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORM2 34 35
  • 50.25 (n)
ORM1 35 37
  • 25 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05621g 34
  • 47.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU11109 34
  • 50.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.09c 34
  • 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

ENSEMBL:
Gene Tree for ORMDL3 (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs1000912627 -- 39,925,210(+) TATTA(A/G)CACCA intron-variant, utr-variant-5-prime
rs1001178786 -- 39,926,998(+) GGAGC(C/G)GAAAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001261341 -- 39,925,538(+) AAGTA(C/G)CCAGA intron-variant
rs1001268330 -- 39,920,923(+) CCCAG(C/T)GCCCC intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1001630188 -- 39,926,700(+) AATAT(C/T)CGGGC intron-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for ORMDL3 Gene

Human Gene Mutation Database (HGMD)
ORMDL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ORMDL3

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: DISEASES and GeneCards

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

UniProtKB/Swiss-Prot

ORML3_HUMAN
  • 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.

Relevant External Links for ORMDL3

Genetic Association Database (GAD)
ORMDL3
Human Genome Epidemiology (HuGE) Navigator
ORMDL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ORMDL3
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 S.J. (Allergy 2009) 3 4 22 46 64
  2. A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications. (PMID: 18395550) Tavendale R. … Palmer C.N. (J. Allergy Clin. Immunol. 2008) 3 4 46 64
  3. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. (PMID: 18760456) Sleiman P.M. … Hakonarson H. (J. Allergy Clin. Immunol. 2008) 3 4 46 64
  4. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. (PMID: 17611496) Moffatt M.F. … Cookson W.O. (Nature 2007) 3 4 46 64
  5. Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis. (PMID: 23066021) Siow D.L. … Wattenberg B.W. (J. Biol. Chem. 2012) 2 3 64

Products for ORMDL3 Gene

Sources for ORMDL3 Gene

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