LMAN2

Chr 5

lectin, mannose binding 2

Also known as: C5orf8, GP36B, VIP36

NCBI Gene: 10960 ENSG00000169223 UniProt: Q12907 OMIM: 609551

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.93

Clinical Summary— LMAN2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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