DSCAM

Chr 21

DS cell adhesion molecule

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

NCBI Gene: 1826ENSG00000171587UniProt: O60469

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]

1
Active trials
0
Pathogenic / LP
0
ClinVar variants
21
Pubs (1 yr)
3.2
Missense Z· constrained
0.19
LOEUF· LoF intolerant
Clinical Summary— DSCAM
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.19LOEUF
pLI 1.000
Z-score 8.07
OE 0.11 (0.07–0.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.22Z-score
OE missense 0.74 (0.70–0.78)
889 obs / 1203.6 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.11 (0.07–0.19)
0≤0.351.4
Missense OE0.74 (0.70–0.78)
0≤0.61.4
Synonymous OE1.07
0≤1.21.6
LoF obs/exp: 11 / 96.5Missense obs/exp: 889 / 1203.6Syn Z: -1.21
LOF
DN
0.5378th %ile
GOF
0.5171th %ile
LOF
0.68top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · 1 literature citation · LOEUF 0.19

Literature Evidence

LOFStudy sequences 189 autism risk genes in a 1,543 Chinese ASD probands (1,045 from trios). Two de novo DSCAM disrupting variants (defined as nonsense, frameshift or splice site) in 1,086 Chinese ASD trios. Also one maternally inherited DSCAM disrupting variant (maternal phenotype unclear). Also, 20 mPMID:27824329

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

DSCAM · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients