NID2

Chr 14

nidogen 2

Also known as: NID-2

NCBI Gene: 22795 ENSG00000087303 UniProt: Q14112 OMIM: 605399

This protein is a cell adhesion glycoprotein that binds collagens I and IV, laminin, and perlecan to maintain basement membrane structure. Mutations cause autosomal recessive congenital muscular dystrophy with intellectual disability and seizures, typically presenting in infancy. The gene shows moderate constraint against loss-of-function variants, with muscle, brain, and eye being the primary affected organ systems.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]

OMIM ResearchGenerating clinical summary…

LOEUF 0.56

Clinical Summary— NID2

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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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