LMAN2
Chr 5lectin, mannose binding 2
Also known as: C5orf8, GP36B, VIP36
This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, Golgi apparatus and plasma membrane, where it binds high mannose-type glycoproteins and facilitates their sorting, trafficking and quality control in the early secretory pathway. Pathogenic variants in LMAN2 cause autosomal recessive intellectual disability-56, which presents with developmental delay, intellectual disability, and dysmorphic features. The gene shows low constraint against loss-of-function variants (pLI = 0.0001, LOEUF = 0.928), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
151 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 | 52 | 0 | 52 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 63 | 10 | 0 | 73 |
Likely Benign | 0 | 1 | 1 | 1 | 3 |
Benign | 0 | 2 | 0 | 0 | 2 |
| Total | 0 | 66 | 69 | 1 | 136 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LMAN2 · 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