CADPS2 Gene
Calcium Dependent Secretion Activator 2
Gene Information Card
| Symbol | CADPS2 |
|---|---|
| Full Name | Calcium Dependent Secretion Activator 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.32 |
| NCBI Gene ID | 93664 ncbi.nlm.nih.gov/gene/93664 |
| Ensembl ID | ENSG00000106462 |
| UniProt ID | Q86UW7 |
| OMIM ID | 609978 |
| HGNC ID | 16018 |
| Aliases | CAPS2, KIAA1591 |
Description
CADPS2 (Calcium Dependent Secretion Activator 2) encodes a member of the CAPS (calcium-dependent activator protein for secretion) family. This protein is involved in dense-core vesicle exocytosis, particularly in neurons and neuroendocrine cells, regulating the release of neurotrophins and neuropeptides. It plays a critical role in brain development, synaptic plasticity, and social behavior. Variants in CADPS2 have been associated with autism spectrum disorder (ASD) and other neurodevelopmental conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism Spectrum Disorder (ASD) | Impaired vesicle exocytosis leading to altered neurotrophin release and synaptic dysfunction | ClinVar, OMIM |
| Intellectual Disability | Disruption of CADPS2-mediated secretion affecting neuronal connectivity | ClinVar |
| Schizophrenia | Potential dysregulation of neurotransmitter release | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Testis | 8.3 | Low |
| Adrenal gland | 6.7 | Low |
| Pancreas | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| U-87 MG (glioblastoma) | 7.8 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2668C>T (p.Arg890*) | Nonsense | Rare | Loss of function; associated with ASD |
| c.1240G>A (p.Gly414Arg) | Missense | Rare | Potential gain of function; uncertain significance |
| c.2077_2078del (p.Glu693fs) | Frameshift | Very rare | Loss of function; reported in intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, impairing vesicle exocytosis.
Gain of Function (GOF)
Rare missense variants may alter calcium sensitivity or vesicle docking, but evidence is limited.
Dominant Negative (DN)
Not well established; some missense variants may interfere with wild-type CAPS2 function.
View complete mutation data：
Gene Ontology (GO)
| • exocytosis (GO:0006887) | • synaptic vesicle exocytosis (GO:0016079) |
| • calcium ion binding (GO:0005509) | • synaptic vesicle membrane (GO:0030672) |
| • synaptic vesicle transport (GO:0048489) |
Pathways
• Regulation of insulin secretion (Reactome R-HSA-422356)
• Neurotransmitter release cycle (Reactome R-HSA-112310)
• Synaptic vesicle cycle (KEGG hsa04721)
Protein Summary
The CADPS2 protein (CAPS2) is a 1,309-amino acid calcium-binding protein that localizes to dense-core vesicle membranes. It facilitates the priming and fusion of vesicles in response to calcium influx, essential for the release of brain-derived neurotrophic factor (BDNF) and other neuropeptides. CAPS2 contains a C2 domain for calcium sensing, a PH domain for membrane interaction, and a MUN domain for vesicle docking. Its dysfunction is linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CADPS2 Knockout HEK293 Cell Line | EDJ-KQ11255 | Human | 93664 | Details Get a Quote |
| CADPS2 Knockout HCT 116 Cell Line | EDJ-KQ39351 | Human | 93664 | Details Get a Quote |
| CADPS2 Knockout HeLa Cell Line | EDJ-KQ57870 | Human | 93664 | Details Get a Quote |
| CADPS2 Knockout A-549 Cell Line | EDJ-KQ66365 | Human | 93664 | Details Get a Quote |
