SNX30

Chr 9

sorting nexin family member 30

The SNX30 protein binds phosphatidylinositol and regulates autophagosome assembly, protein transport, cytoskeletal reorganization, endocytosis, and mitotic progression including cytokinesis and cleavage furrow formation. With a low LOEUF score of 0.454 indicating intolerance to loss-of-function variants, SNX30 mutations would likely cause autosomal dominant disease, though no specific clinical phenotype has been established yet. The protein's essential roles in cellular trafficking and cell division suggest mutations could lead to neurodevelopmental disorders.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.45
Clinical SummarySNX30
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.59) — some intolerance to loss-of-function variants.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.45LOEUF
pLI 0.588
Z-score 3.33
OE 0.20 (0.100.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.89Z-score
OE missense 0.84 (0.750.94)
203 obs / 241.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.20 (0.100.45)
00.351.4
Missense OE0.84 (0.750.94)
00.61.4
Synonymous OE0.82
01.21.6
LoF obs/exp: 4 / 20.1Missense obs/exp: 203 / 241.9Syn Z: 1.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SNX30 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC