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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CSMD3
CUB and Sushi multiple domains 3
Chromosome 8 · 8q23.3
NCBI Gene: 114788Ensembl: ENSG00000164796.18HGNC: HGNC:19291UniProt: Q7Z407
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of dendrite developmentplasma membraneprostate adenocarcinomaesophageal cancergastric adenocarcinomainsomnia
✦AI Summary

CSMD3 (CUB and Sushi multiple domains 3) is a transmembrane protein that plays critical roles in neurodevelopment, particularly in dendrite development and synaptogenesis 1. The protein is predominantly expressed in the developing brain, with specific roles in cortical neuron development and cerebellar Purkinje cell morphology 23. CSMD3 functions as a putative complement control protein that regulates synapse formation and neuronal maturation 2. Loss-of-function studies in mice demonstrate that CSMD3 deficiency impairs synaptogenesis, reduces neurogenesis, and causes abnormal cerebellar Purkinje cell dendritogenesis and spinogenesis 23. Clinically, CSMD3 variants are associated with multiple neurological conditions including focal epilepsy, febrile seizures, autism spectrum disorder, and other neurodevelopmental disorders 432. The gene spans over 1.2Mb with 73 exons and shows homology to other CSMD family members 1. CSMD3 dysfunction leads to altered synaptic plasticity, increased neuronal excitability, and behavioral phenotypes including social interaction deficits and motor dysfunction, suggesting its essential role in proper brain development and function 32.

Sources cited
1
CSMD3 is a transmembrane protein with CUB and sushi domains, spans 1.2Mb with 73 exons, and is expressed in brain
PMID: 12943675
2
CSMD3 functions as putative complement control protein regulating synaptogenesis and is expressed in cortical neurons
PMID: 35245678
3
CSMD3 deficiency causes abnormal cerebellar Purkinje cell morphology and autism-like behaviors in mice
PMID: 37037606
4
CSMD3 variants are associated with focal epilepsy, febrile seizures, and developmental epileptic encephalopathy
PMID: 40632521
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
prostate adenocarcinomaOpen Targets
0.44Moderate
esophageal cancerOpen Targets
0.42Moderate
gastric adenocarcinomaOpen Targets
0.41Moderate
insomniaOpen Targets
0.38Weak
ovarian dysfunctionOpen Targets
0.37Weak
substance-related disorderOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.36Weak
head and neck squamous cell carcinomaOpen Targets
0.35Weak
male reproductive organ cancerOpen Targets
0.32Weak
type 1 diabetes mellitusOpen Targets
0.31Weak
colorectal adenocarcinomaOpen Targets
0.31Weak
hemolytic anemiaOpen Targets
0.30Weak
pancreatic adenocarcinomaOpen Targets
0.29Weak
preeclampsiaOpen Targets
0.28Weak
response to antihypertensive drugOpen Targets
0.28Weak
immune system diseaseOpen Targets
0.28Weak
adolescent idiopathic scoliosisOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.27Weak
glioblastoma multiformeOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANXA13Protein interaction84%EXT1Protein interaction84%TRPS1Protein interaction84%LRP1BProtein interaction78%TTNProtein interaction72%MUC16Protein interaction72%
Tissue Expression6 tissues
Brain
100%
Ovary
3%
Liver
3%
Lung
2%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
CSMD3ANXA13EXT1TRPS1LRP1BTTNMUC16
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z407
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.97Intolerant
Observed/Expected LoF0.39 [0.33–0.46]
RankingsWhere CSMD3 stands among ~20K protein-coding genes
  • #14,675of 20,598
    Most Researched18
  • #2,640of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedCSMD3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Variants in CSMD2 and CSMD3, genes involved in synaptogenesis, are associated with epilepsies.
PMID: 40632521
Epilepsia · 2025
1.00
2
A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.
PMID: 12943675
Biochem Biophys Res Commun · 2003
0.90
3
PMID: 37037606
J Neurosci · 2023
0.80
4
Putative complement control protein CSMD3 dysfunction impairs synaptogenesis and induces neurodevelopmental disorders.
PMID: 35245678
Brain Behav Immun · 2022
0.70
5
The immune subtypes and landscape of sarcomas.
PMID: 36153483
BMC Immunol · 2022
0.60