LMAN2L
Chr 2ADARlectin, mannose binding 2 like
Also known as: MRD69, MRT52, VIPL
The protein functions as a non-cycling endoplasmic reticulum resident cargo receptor that regulates the export of glycoproteins from the ER to the Golgi apparatus and directs misfolded glycoproteins to the ubiquitin-proteasome pathway for degradation. Mutations cause intellectual developmental disorder with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows relatively low constraint against loss-of-function variants (LOEUF 1.295), suggesting some tolerance to functional disruption.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
150 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 | 1 | 1 | 23 | 0 | 25 |
Likely Pathogenic | 0 | 1 | 10 | 0 | 11 |
VUS | 4 | 50 | 37 | 1 | 92 |
Likely Benign | 0 | 1 | 4 | 11 | 16 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 5 | 53 | 75 | 12 | 145 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LMAN2L · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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