CSMD2

Chr 1

CUB and Sushi multiple domains 2

Also known as: dJ1007G16.1, dJ1007G16.2, dJ947L8.1

NCBI Gene: 114784ENSG00000121904UniProt: Q7Z408

The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020]

459
ClinVar variants
2
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CSMD2
📋
ClinVar Variants
2 Pathogenic / Likely Pathogenic· 427 VUS of 459 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

459 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1
Likely Pathogenic1
VUS427
Likely Benign30
1
Pathogenic
1
Likely Pathogenic
427
VUS
30
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
1
0
1
Likely Pathogenic
0
0
1
0
1
VUS
2
425
0
0
427
Likely Benign
0
14
0
16
30
Benign
0
0
0
0
0
Total2439216459

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CSMD2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Variants in CSMD2 and CSMD3, genes involved in synaptogenesis, are associated with epilepsies.
Li X et al.·Epilepsia
2025
Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes.
Vuori N et al.·Invest Ophthalmol Vis Sci
2025
Pharmacogenomics of intravenous immunoglobulin response in Kawasaki disease.
Shrestha S et al.·Front Immunol
2024
A genetic association study of CSMD1 and CSMD2 with cognitive function.
Athanasiu L et al.·Brain Behav Immun
2017
Voxelwise genome-wide association study (vGWAS).
Stein JL et al.·Neuroimage
2010
Identification of two new members of the CSMD gene family.
Lau WL et al.·Genomics
2003
HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC).
Wang W et al.·BMC Med Genomics
2022
A Genome-Wide Association Study and Rare Variant Analysis for Dupuytren Disease in a North American Population.
Grandizio LC et al.·J Hand Surg Am
2025
Long-read sequencing unveils novel somatic variants and methylation patterns in the genetic information system of early lung cancer.
Cui X et al.·Comput Biol Med
2024
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
Kim DS et al.·Am J Med Genet B Neuropsychiatr Genet
2017
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools