DSCAM

Chr 21

DS cell adhesion molecule

Also known as: CHD2, CHD2-42, CHD2-52

NCBI Gene: 1826 ENSG00000171587 UniProt: O60469

DSCAM encodes a cell adhesion molecule that mediates neuronal self-avoidance, axon guidance, and lamina-specific synaptic connections in retinal and spinal cord development. Mutations cause autosomal dominant intellectual disability with behavioral abnormalities and seizures, typically presenting in early childhood. This gene is extremely intolerant to loss-of-function variants, indicating that proper dosage is critical for normal neurodevelopment.

ResearchSummary from RefSeq, UniProt

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted

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