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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SMPDL3B
sphingomyelin phosphodiesterase acid like 3B
Chromosome 1 · 1p35.3
NCBI Gene: 27293Ensembl: ENSG00000130768.16HGNC: HGNC:21416UniProt: B4DEC6
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomephosphoric diester hydrolase activityGO:0005615lipid catabolic processMoyamoya diseaseretinopathyMeckel syndrome, type 1neoplasm
✦AI Summary

SMPDL3B (sphingomyelin phosphodiesterase acid-like 3B) is a lipid-modulating phosphodiesterase primarily expressed on macrophages, dendritic cells, and podocytes that serves as a negative regulator of inflammatory signaling 1. The enzyme functions through multiple mechanisms: it acts as a cGAMP hydrolase that suppresses cGAS-STING antiviral signaling 2, regulates sphingolipid metabolism through ceramide and sphingosine-1-phosphate pathways 3, and modulates membrane lipid raft integrity critical for barrier function 4. SMPDL3B is stabilized through palmitoylation by ZDHHC5 in response to high glucose conditions 5. Disease relevance spans multiple pathologies: in diabetic retinopathy, SMPDL3B silencing exacerbates vascular endothelial inflammation via NF-κB/NLRP3 activation 5; reduced expression associates with focal segmental glomerulosclerosis susceptibility and podocyte injury 6; altered expression contributes to Alport Syndrome proteinuria and podocyte dysfunction 3; and elevated levels predict poor prognosis in acute myeloid leukemia 7. Emerging evidence identifies circulating SMPDL3B as a biomarker for myalgic encephalomyelitis severity and immune dysregulation, with potential therapeutic targeting via PI-PLC inhibition 84.

Sources cited
1
SMPDL3B is a lipid-modulating phosphodiesterase active on macrophages and dendritic cells that negatively regulates Toll-like receptor signaling
PMID: 26095358
2
SMPDL3B functions as a cGAMP hydrolase that suppresses cGAS-STING antiviral signaling and is induced by viral infection and membrane stress
PMID: 41175872
3
SMPDL3B is palmitoylated and stabilized by ZDHHC5; its silencing exacerbates diabetic retinopathy through NLRP3/NF-κB pathway activation in retinal endothelial cells
PMID: 38266744
4
SMPDL3B is involved in sphingomyelin-to-ceramide conversion in podocytes and reduced levels are associated with focal segmental glomerulosclerosis
PMID: 24861084
5
SMPDL3B regulates sphingosine-1-phosphate levels and podocyte integrity in Alport Syndrome, decoupling proteinuria from kidney failure
PMID: 40451505
6
SMPDL3B emerges as a biomarker for myalgic encephalomyelitis severity with elevated plasma levels correlating with symptoms; DPP-4 inhibitors can modulate membrane-bound SMPDL3B
PMID: 40624584
7
Soluble SMPDL3B serves as a surrogate marker of membrane-bound podocyte SMPDL3B status; altered levels associate with renal dysfunction and metabolic dysregulation in myalgic encephalomyelitis
PMID: 41009450
8
Elevated SMPDL3B expression is associated with poor overall survival in acute myeloid leukemia and promotes leukemic cell growth
PMID: 34504869
9
SMPDL3B regulates sphingolipid metabolism and contributes to renal fibrotic disease pathogenesis
PMID: 29343457
Disease Associationsⓘ20
Moyamoya diseaseOpen Targets
0.30Weak
retinopathyOpen Targets
0.30Weak
Meckel syndrome, type 1Open Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
diabetic nephropathyOpen Targets
0.07Suggestive
isolated agammaglobulinemiaOpen Targets
0.04Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
ovarian carcinomaOpen Targets
0.04Suggestive
hyper-IgE recurrent infection syndrome 5, autosomal recessiveOpen Targets
0.04Suggestive
combined immunodeficiency due to moesin deficiencyOpen Targets
0.04Suggestive
agammaglobulinemia 7, autosomal recessiveOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
immunodeficiency 89 and autoimmunityOpen Targets
0.03Suggestive
macrophage activation syndromeOpen Targets
0.03Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.03Suggestive
immunodeficiency 69Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LRRC14Shared pathway25%LRCOL1Shared pathway20%CLPSL2Shared pathway20%CLPSL1Shared pathway20%IL22RA2Shared pathway20%FNDC4Shared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
35%
Brain
16%
Liver
5%
Heart
3%
Ovary
1%
Gene Interaction Network
Click a node to explore
SMPDL3BLRRC14LRCOL1CLPSL2CLPSL1IL22RA2FNDC4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92485
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.56–1.03]
RankingsWhere SMPDL3B stands among ~20K protein-coding genes
  • #10,240of 20,598
    Most Researched40
  • #10,173of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedSMPDL3B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SMPDL3B is palmitoylated and stabilized by ZDHHC5, and its silencing aggravates diabetic retinopathy of db/db mice: Activation of NLRP3/NF-κB pathway.
PMID: 38266744
Cell Signal · 2024
1.00
2
Membrane integrity changes upon viral infection activate sphingomyelinase SMPDL3B to restrict cGAS-STING signaling via cGAMP degradation.
PMID: 41175872
Immunity · 2025
0.90
3
Lipid biology of the podocyte--new perspectives offer new opportunities.
PMID: 24861084
Nat Rev Nephrol · 2014
0.80
4
SMPDL3B a novel biomarker and therapeutic target in myalgic encephalomyelitis.
PMID: 40624584
J Transl Med · 2025
0.70
5
Circulating Levels of SMPDL3B Define Metabolic Endophenotypes and Subclinical Kidney Alterations in Myalgic Encephalomyelitis.
PMID: 41009450
Int J Mol Sci · 2025
0.60