SMPDL3A

Chr 6

sphingomyelin phosphodiesterase acid like 3A

Also known as: ASM3A, ASML3a, yR36GH4.1

Enables phosphoric diester hydrolase activity and zinc ion binding activity. Involved in negative regulation of cGAS/STING signaling pathway and nucleoside triphosphate catabolic process. Located in extracellular exosome. Is active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.79
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.000
Z-score -1.36
OE 1.33 (0.971.79)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.15Z-score
OE missense 0.97 (0.871.08)
225 obs / 231.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.33 (0.971.79)
00.351.4
Missense OE?0.97 (0.871.08)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 27 / 20.4Missense obs/exp: 225 / 231.6Syn Z: 0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SMPDL3A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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