ORMDL2 (ORMDL Sphingolipid Biosynthesis Regulator 2)
Key regulator of sphingolipid homeostasis and potential link to inflammatory diseases
Gene Information Card
| Symbol | ORMDL2 |
|---|---|
| Full Name | ORMDL sphingolipid biosynthesis regulator 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 29095 ncbi.nlm.nih.gov/gene/29095 |
| Ensembl ID | ENSG00000123360 |
| UniProt ID | Q53FV1 |
| OMIM ID | 610075 |
| HGNC ID | 16037 |
| Aliases | ORMDL2, Adoplin-2 |
Description
ORMDL2 encodes a member of the ORMDL family of endoplasmic reticulum membrane proteins that negatively regulate serine palmitoyltransferase (SPT), the first and rate-limiting enzyme in sphingolipid biosynthesis. By modulating SPT activity, ORMDL2 helps maintain cellular sphingolipid homeostasis. The gene is ubiquitously expressed and has been implicated in asthma and inflammatory bowel disease through genetic association studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | Genetic variants in ORMDL2 are associated with increased risk; mechanism may involve altered sphingolipid metabolism affecting airway inflammation. | GWAS (Moffatt et al., Nature 2007) |
| Inflammatory Bowel Disease | ORMDL2 polymorphisms linked to Crohn's disease; dysregulated sphingolipid synthesis may contribute to intestinal inflammation. | GWAS (Barrett et al., Nat Genet 2008) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Small Intestine | 15.3 | Medium |
| Colon | 14.8 | Medium |
| Liver | 10.2 | Medium |
| Whole Blood | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 14.2 | High expression |
| Caco-2 (Colon) | 16.1 | High expression |
| HepG2 (Liver) | 11.0 | Medium expression |
| K562 (Leukemia) | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2872507 | SNP | 0.25 (European) | Associated with asthma risk; intronic variant |
| rs9303277 | SNP | 0.30 (European) | Associated with Crohn's disease; intergenic |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of serine C-palmitoyltransferase activity | • sphingolipid biosynthetic process |
| • endoplasmic reticulum membrane | • protein homodimerization activity |
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• Regulation of sphingolipid biosynthesis
Protein Summary
ORMDL2 is a 153-amino acid transmembrane protein localized to the endoplasmic reticulum. It forms a complex with serine palmitoyltransferase (SPT) to inhibit its activity in response to elevated sphingolipid levels, thereby maintaining sphingolipid homeostasis. The protein is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ORMDL2 Knockout HEK293 Cell Line | EDJ-KQ8980 | Human | 29095 | Details Get a Quote |
| ORMDL2 Knockout A-549 Cell Line | EDJ-KQ35405 | Human | 29095 | Details Get a Quote |
| ORMDL2 Knockout HCT 116 Cell Line | EDJ-KQ35406 | Human | 29095 | Details Get a Quote |
| ORMDL2 Knockout HeLa Cell Line | EDJ-KQ35407 | Human | 29095 | Details Get a Quote |
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