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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ORMDL2
ORMDL sphingolipid biosynthesis regulator 2
Chromosome 12 · 12q13.2
NCBI Gene: 29095Ensembl: ENSG00000123353.11HGNC: HGNC:16037UniProt: Q53FV1
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of ceramide biosynthetic processprotein bindingceramide metabolic processendoplasmic reticulumglioblastoma multiformemyopiapsoriasisglioma
✦AI Summary

ORMDL2 is an endoplasmic reticulum membrane protein that plays a critical role in sphingolipid homeostasis by regulating serine palmitoyltransferase (SPT) activity 1. The protein functions as a negative regulator of ceramide biosynthesis: when complexed with SPT, ceramide binding to ORMDL2's N-terminus stabilizes a conformation that blocks SPT substrate entry, preventing excessive ceramide accumulation while maintaining sufficient levels for complex sphingolipid synthesis 1. ORMDL2 is conserved across species from yeast to humans, with functional redundancy among ORMDL family members 2. ORMDL2 has emerged as a multi-functional regulator in cancer biology. In glioblastoma, elevated ORMDL2 expression correlates with poor prognosis and promotes tumor growth through mTORC1-mediated fatty acid metabolism activation 3. ORMDL2 also contributes to immune suppression and therapeutic resistance to DNA damage response inhibitors in glioblastoma 4. Beyond cancer, ORMDL2 variants are associated with increased asthma risk, with asthmatics showing elevated ORMDL2 baseline expression 5. Additionally, rare loss-of-function variants in ORMDL2 are enriched in age-related macular degeneration 6, and upregulated ORMDL2 serves as a diagnostic marker for IgA nephropathy 7. These findings suggest ORMDL2 represents a potential therapeutic target across multiple disease contexts.

Sources cited
1
ORMDL2 modulates SPT activity in response to ceramide levels, with ceramide binding stabilizing a conformation that blocks SPT catalytic activity
PMID: 20182505
2
ORMDL proteins are a conserved endoplasmic reticulum membrane protein family with functional conservation from yeast to vertebrates
PMID: 12093374
3
ORMDL2 high expression in glioma promotes tumor growth through mTORC1-mediated fatty acid metabolism and correlates with poor patient survival
PMID: 40892158
4
ORMDL2 regulates immune suppression and therapeutic resistance in glioblastoma, with expression associated with resistance to DNA damage response inhibitors
PMID: 41049440
5
Polymorphisms in ORMDL2 are associated with asthma, with asthmatics showing significantly higher baseline ORMDL2 expression in peripheral blood mononuclear cells
PMID: 26011647
6
Rare loss-of-function variants in ORMDL2 are enriched in age-related macular degeneration
PMID: 37934784
7
ORMDL2 is upregulated in IgA nephropathy and serves as a diagnostic biomarker with ability to discriminate IgAN patients
PMID: 35351150
Disease Associationsⓘ20
glioblastoma multiformeOpen Targets
0.07Suggestive
myopiaOpen Targets
0.07Suggestive
psoriasisOpen Targets
0.04Suggestive
gliomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
Phenotypic abnormalityOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
IGA glomerulonephritisOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
brain neoplasmOpen Targets
0.01Suggestive
asthmaOpen Targets
0.00Suggestive
laryngotracheoesophageal cleftOpen Targets
0.00Suggestive
non-alcoholic steatohepatitisOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPTSSAProtein interaction100%SPTSSBProtein interaction100%ORM1Protein interaction95%SPTLC2Protein interaction95%SPTLC1Protein interaction95%SPTLC3Protein interaction94%
Tissue Expression6 tissues
Lung
100%
Liver
88%
Brain
57%
Heart
45%
Bone Marrow
37%
Ovary
35%
Gene Interaction Network
Click a node to explore
ORMDL2SPTSSASPTSSBORM1SPTLC2SPTLC1SPTLC3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q53FV1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.49–1.28]
RankingsWhere ORMDL2 stands among ~20K protein-coding genes
  • #11,565of 20,598
    Most Researched32
  • #13,497of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedORMDL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting ORMDL2 in glioblastoma through integrated landscape of high-throughput sequencing and pharmacogenomic analysis.
PMID: 41049440
Int J Med Sci · 2025
1.00
2
ORMDL2 Promotes the Growth of Glioma through mTORC1-Mediated Fatty Acid Metabolism.
PMID: 40892158
Appl Biochem Biotechnol · 2025
0.90
3
Decreased SPTLC1 expression predicts worse outcomes in ccRCC patients.
PMID: 31512789
J Cell Biochem · 2020
0.80
4
Expression Patterns and Prognostic Values of ORMDL1 in Different Cancers.
PMID: 33145351
Biomed Res Int · 2020
0.70
5
Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.
PMID: 37934784
Hum Mol Genet · 2024
0.60