MOSPD2
Chr Xmotile sperm domain containing 2
The MOSPD2 protein mediates formation of contact sites between the endoplasmic reticulum and other organelles including endosomes, mitochondria, and Golgi, and participates in lipid droplet homeostasis. Mutations cause autosomal recessive intellectual disability with developmental delay, and the gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.26). The condition primarily affects neurological development and cognitive function.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
229 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 67 | 0 | 67 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 28 | 6 | 0 | 34 |
Likely Benign | 0 | 1 | 1 | 1 | 3 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 29 | 76 | 2 | 107 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MOSPD2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools