CADPS

Chr 3

calcium dependent secretion activator

NCBI Gene: 8618ENSG00000163618UniProt: Q9ULU8

Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates catecholamine loading of DCVs. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles by acting as a PtdIns(4,5)P2-binding protein that acts at prefusion step following ATP-dependent priming and participates in DCVs-membrane fusion. However, it may also participate in small clear synaptic vesicles (SVs) exocytosis and it is unclear whether its function is related to Ca(2+) triggering (By similarity)

197
ClinVar variants
11
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CADPS
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 150 VUS of 197 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.43LOEUF
pLI 0.000
Z-score 5.64
OE 0.31 (0.22–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
3.10Z-score
OE missense 0.68 (0.64–0.74)
525 obs / 766.6 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.31 (0.22–0.43)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.68 (0.64–0.74)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 24 / 77.6Missense obs/exp: 525 / 766.6Syn Z: -1.44

ClinVar Variant Classifications

197 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS150
Likely Benign31
Benign5
10
Pathogenic
1
Likely Pathogenic
150
VUS
31
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
2
137
10
1
150
Likely Benign
0
3
5
23
31
Benign
0
0
2
3
5
Total21402827197

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

View in ClinVar →

Protein Context — Lollipop Plot

CADPS · 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
Whole-genome sequencing analysis of clozapine-induced myocarditis.
Narang A et al.·Pharmacogenomics J
2022
Comprehensive bioinformatics analysis identifies metabolic and immune-related diagnostic biomarkers shared between diabetes and COPD using multi-omics and machine learning.
Liang Q et al.·Front Endocrinol (Lausanne)
2025
Complementary Transcriptomic and Proteomic Analysis in the Substantia Nigra of Parkinson's Disease.
Dong BH et al.·Dis Markers
2021
The Causal Relationship of Circulating Triglyceride and Glycated Hemoglobin: A Mendelian Randomization Study.
Hsiung CN et al.·J Clin Endocrinol Metab
2020
Survival-associated alternative splicing events interact with the immune microenvironment in stomach adenocarcinoma.
Ye ZS et al.·World J Gastroenterol
2021
Preliminary study of genome-wide association identifies novel susceptibility genes for serum mineral elements in the Chinese Han population.
Guo D et al.·Biol Trace Elem Res
2022
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.·Genet Med
2016Cohort
Admixture Mapping of Subclinical Atherosclerosis and Subsequent Clinical Events Among African Americans in 2 Large Cohort Studies.
Shendre A et al.·Circ Cardiovasc Genet
2017Cohort
Genome-wide molecular characterization of central nervous system primitive neuroectodermal tumor and pineoblastoma.
Miller S et al.·Neuro Oncol
2011
Biological and prognostic relevance of A-to-I RNA editing across consensus molecular subtypes of colon cancer.
Monaco D et al.·Sci Rep
2026
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Shared molecular profiles of post-laser vision correction ectasia and keratoconus with key differences in CADPS, CPT1B, CIITA, and TBC1D4.
Jaskiewicz-Rajewicz K et al.·Front Mol Biosci
2025🔓 Open Access
Low expression of CADPS predicts poor prognosis in pediatric acute lymphoblastic leukemia without fusion genes.
Zhang B et al.·Biomol Biomed
2025🔓 Open Access
CADPS functional mutations in patients with bipolar disorder increase the sensitivity to stress.
Sitbon J et al.·Mol Psychiatry
2022Cohort
Genome-wide association study identifies novel risk variants from RPS6KA1, CADPS, VARS, and DHX58 for fasting plasma glucose in Arab population.
Hebbar P et al.·Sci Rep
2020🔓 Open Access
Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.
Cisternas FA et al.·Genomics
2003
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