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Aliases for ORMDL3 Gene

Aliases for ORMDL3 Gene

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

External Ids for ORMDL3 Gene

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 primary biliary cirrhosis. An important paralog of this gene is ORMDL2.

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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ORMDL3 Gene

Genomics for ORMDL3 Gene

Genomic Location for ORMDL3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ORMDL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORMDL3 Gene

Regulatory Elements 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

Proteomics data for ORMDL3 Gene at MOPED

Post-translational modifications for ORMDL3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys79 and Lys152

Other Protein References for ORMDL3 Gene

No data available for DME Specific Peptides for ORMDL3 Gene

Domains for ORMDL3 Gene

Protein Domains for ORMDL3 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

ORML3_HUMAN
Family:
  • Belongs to the ORM family.:
    • Q8N138
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

Phenotypes for ORMDL3 Gene

GenomeRNAi human phenotypes for ORMDL3:
genes like me logo Genes that share phenotypes with ORMDL3: view

miRNA for ORMDL3 Gene

miRTarBase miRNAs that target ORMDL3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for ORMDL3 Gene COMPARTMENTS Subcellular localization image for ORMDL3 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
plasma membrane 2
cytoskeleton 1
extracellular 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:0016021 integral component of membrane IEA --
GO:0035339 SPOTS complex IDA 20182505
genes like me logo Genes that share ontologies with ORMDL3: view

Pathways for ORMDL3 Gene

SuperPathways for ORMDL3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ORMDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process IMP 20182505
GO:0090156 cellular sphingolipid homeostasis IEA --
genes like me logo Genes that share ontologies with ORMDL3: view

No data available for Pathways by source for ORMDL3 Gene

Transcripts for ORMDL3 Gene

Unigene Clusters for ORMDL3 Gene

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

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 for ORMDL3 Gene

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

This gene is overexpressed in Liver (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ORMDL3 Gene

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.
genes like me logo Genes that share expressions with ORMDL3: view

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 36
  • 99.78 (n)
  • 99.35 (a)
ORMDL3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ORMDL3 36
  • 93.25 (n)
  • 98.69 (a)
ORMDL3 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ORMDL3 36
  • 92.37 (n)
  • 98.69 (a)
ORMDL3 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ormdl3 36
  • 88.89 (n)
  • 96.73 (a)
Ormdl3 16
Ormdl3 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ORMDL3 37
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ORMDL3 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ormdl3 36
  • 91.07 (n)
  • 97.39 (a)
chicken
(Gallus gallus)
Aves ORMDL3 36
  • 84.75 (n)
  • 92.81 (a)
ORMDL3 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ORMDL3 37
  • 91 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ormdl3 36
  • 81.92 (n)
  • 92.16 (a)
ormdl3 37
  • 92 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010566 36
  • 58.5 (n)
  • 53.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta ORMDL 36
  • 56.58 (n)
  • 50 (a)
ORMDL 37
  • 49 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL189C 36
  • 55.15 (n)
  • 44.12 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORM1 37
  • 25 (a)
ManyToMany
ORM1 39
ORM2 36
  • 50.25 (n)
  • 41.04 (a)
ORM2 37
  • 27 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05621g 36
  • 47.3 (n)
  • 41.91 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11109 36
  • 50.98 (n)
  • 41.18 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.09c 36
  • 48.15 (n)
  • 43.75 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 63 (a)
OneToMany
Species with no ortholog for ORMDL3:
  • 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

Selected 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 MAF
rs7942 -- 39,921,211(+) TCTCC(C/T)GTTCC utr-variant-3-prime
rs1044668 -- 39,921,124(-) TCTTT(C/T)TAAGC utr-variant-3-prime
rs1044675 -- 39,921,079(-) GTATT(C/T)TGAGA utr-variant-3-prime
rs2278894 -- 39,921,170(+) GGAGA(C/T)GCAGG utr-variant-3-prime
rs3169572 -- 39,921,159(-) CACCC(C/T)GTGTA utr-variant-3-prime

Relevant External Links for ORMDL3 Gene

HapMap Linkage Disequilibrium report
ORMDL3
Human Gene Mutation Database (HGMD)
ORMDL3

No data available for Structural Variations from Database of Genomic Variants (DGV) for ORMDL3 Gene

Disorders for ORMDL3 Gene

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.

(1) MalaCards Diseases for ORMDL3 Gene

Search for ORMDL3 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ORMDL3 Gene

Relevant External Links for ORMDL3

Genetic Association Database (GAD)
ORMDL3
Human Genome Epidemiology (HuGE) Navigator
ORMDL3
genes like me logo Genes that share disorders with ORMDL3: view

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 23 49
  2. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. (PMID: 17611496) Moffatt M.F. … Cookson W.O. (Nature 2007) 3 4 49
  3. 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 49
  4. 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 49
  5. Asthma and atopy are associated with chromosome 17q21 markers in Chinese children. (PMID: 19175592) Leung T.F. … Lam C.W. (Allergy 2009) 3 49

Products for ORMDL3 Gene

Sources for ORMDL3 Gene

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