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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CADPS2
calcium dependent secretion activator 2
Chromosome 7 · 7q31.32
NCBI Gene: 93664Ensembl: ENSG00000081803.18HGNC: HGNC:16018UniProt: B7ZM57
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ciliary basal bodycentrosomeciliumexocytosisalcohol drinkingosteoarthritisbiliary tract diseasecholelithiasis
✦AI Summary

CADPS2 is a calcium-binding protein that mediates exocytosis of dense-core vesicles containing neurotransmitters and neuropeptides 1. It contains a C2 domain for calcium and phospholipid interactions and acts as a calcium sensor in vesicle trafficking 1. CADPS2 regulates neurotrophin release critical for neuronal development and function 2. Clinically, CADPS2 dysregulation is implicated in multiple neurodevelopmental and neurodegenerative conditions. Cadps2-knockout mice exhibit impaired brain-derived neurotrophic factor release and autistic-like behavioral phenotypes 2. Aberrant CADPS2 splicing (lacking exon 3) has been identified in autistic patients, affecting axonal protein distribution 2. Maternally inherited CADPS2 variants are associated with autism spectrum disorder and intellectual disability 3. In Parkinson's disease, CADPS2 expression is dysregulated: LRRK2 mutations increase expression while alpha-synuclein overexpression reduces it 4. A disease-specific neuronal cluster with CADPS2 overexpression and low tyrosine hydroxylase levels was identified exclusively in idiopathic Parkinson's disease midbrains 5. Additionally, a homozygous CADPS2 mutation (p.V559L) in the pleckstrin homology domain caused severe neurodegeneration with Lewy body-like pathology in parrots 6. CADPS2 mutations have also been identified in metastatic breast cancer as tumor-specific antigens 7.

Sources cited
1
CADPS2 contains a C2 calcium-binding domain and acts as calcium sensor in vesicle trafficking
PMID: 12659812
2
Cadps2-knockout mice show autistic-like phenotypes and impaired BDNF release; aberrant CADPS2 splicing found in autistic patients
PMID: 17380209
3
LRRK2 increases CADPS2 expression while alpha-synuclein reduces it; relevant to Parkinson's disease synaptic dysfunction
PMID: 28647363
4
CADPS2 overexpression in dysfunctional dopaminergic neurons identified exclusively in idiopathic Parkinson's disease midbrains
PMID: 34919646
5
Maternally inherited CADPS2 variants present in autism spectrum disorder and intellectual disability patients
PMID: 24737869
6
Homozygous CADPS2 p.V559L mutation causes severe neurodegeneration with Lewy body-like pathology in parrots
PMID: 36086934
7
CADPS2 mutations identified as tumor-specific antigens in metastatic breast cancer
PMID: 29867227
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.35Weak
osteoarthritisOpen Targets
0.26Weak
biliary tract diseaseOpen Targets
0.26Weak
cholelithiasisOpen Targets
0.24Weak
ankylosing spondylitisOpen Targets
0.24Weak
risk-taking behaviourOpen Targets
0.24Weak
Gastric Papillary AdenocarcinomaOpen Targets
0.24Weak
glomerulonephritisOpen Targets
0.22Weak
Alzheimer diseaseOpen Targets
0.22Weak
Parkinson diseaseOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.22Weak
lysosomal storage diseaseOpen Targets
0.21Weak
multiple sclerosisOpen Targets
0.21Weak
HypocalcemiaOpen Targets
0.21Weak
severe acute respiratory syndromeOpen Targets
0.20Weak
depressive disorderOpen Targets
0.20Weak
kidney diseaseOpen Targets
0.19Weak
head injuryOpen Targets
0.18Weak
infectious meningitisOpen Targets
0.18Weak
obesityOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DYRK1AProtein interaction81%NRG3Protein interaction81%AUTS2Protein interaction81%CADPSShared pathway75%STXBP5Shared pathway33%UNC13CShared pathway29%
Tissue Expression6 tissues
Brain
100%
Heart
48%
Liver
36%
Lung
31%
Ovary
25%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
CADPS2DYRK1ANRG3AUTS2CADPSSTXBP5UNC13C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86UW7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.45–0.70]
RankingsWhere CADPS2 stands among ~20K protein-coding genes
  • #9,843of 20,598
    Most Researched42
  • #5,321of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedCADPS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state.
PMID: 34919646
Brain · 2022
1.00
2
Immune recognition of somatic mutations leading to complete durable regression in metastatic breast cancer.
PMID: 29867227
Nat Med · 2018
0.90
3
CADPS2 gene expression is oppositely regulated by LRRK2 and alpha-synuclein.
PMID: 28647363
Biochem Biophys Res Commun · 2017
0.80
4
Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.
PMID: 12659812
Genomics · 2003
0.70
5
Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants.
PMID: 24287856
Int J Environ Res Public Health · 2013
0.60