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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DOC2A
double C2 domain alpha
Chromosome 16 · 16p11.2
NCBI Gene: 8448Ensembl: ENSG00000149927.19HGNC: HGNC:2985UniProt: Q14183
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of calcium ion-dependent exocytosisprotein bindingsynapsepositive regulation of calcium ion-dependent exocytosisneurodegenerative diseaseAbnormality of the skeletal systemAlzheimer diseaseobesity
✦AI Summary

DOC2A is a calcium-sensing protein that regulates synaptic vesicle fusion and neurotransmitter release. As a C2 domain-containing protein, DOC2A binds calcium and phospholipids, translocating to plasma membranes upon calcium elevation 1. It responds to submicromolar calcium concentrations (half-maximal translocation at ~450 nM) with kinetics suited for modulating short-term synaptic plasticity 1. DOC2A functions as a presynaptic calcium sensor regulating both spontaneous and evoked neurotransmitter release, potentially through interaction with UNC13A and the SNARE machinery protein Munc18-1 2. DOC2A dysfunction is implicated in multiple neurological disorders. Expression is significantly elevated in temporal lobe epilepsy, localizing to presynaptic terminals 3. Heterozygous DOC2A loss-of-function increases seizure susceptibility and causes hyperactivity and macrocephaly when combined with fam57ba haploinsufficiency in the 16p11.2 region 4. A schizophrenia-associated synonymous variant (rs3935873) generates an alternative DOC2A isoform (DOC2A∆Val217-Pro218) that alters excitatory synaptic transmission and produces behavioral deficits 5. Additionally, DOC2A is identified as a shared genetic risk factor between Parkinson's disease and Lewy body dementia 6, 7, suggesting broader neurodegeneration involvement. Reduced Munc18-1 levels destabilize and misdirect synaptic DOC2A 2, linking DOC2A dysfunction to STXBP1 encephalopathies.

Sources cited
1
DOC2A is a submicromolar calcium sensor that translocates to plasma membranes upon calcium elevation with half-maximal translocation at ~450 nM and kinetics of 2.6 seconds; regulates synaptic transmission and short-term plasticity
PMID: 16515538
2
DOC2A expression is significantly increased in human temporal lobe epilepsy and rat TLE models, localizing to presynaptic terminals colocalized with VMAT2
PMID: 30844661
3
DOC2A heterozygous loss combined with fam57ba haploinsufficiency causes increased seizure susceptibility, hyperactivity, macrocephaly, and increased body length in zebrafish
PMID: 28934389
4
Disease-causing Munc18-1 mutations destabilize and cause aggregation of DOC2A; reduced Munc18-1 impairs DOC2A synaptic targeting and causes neuronal synaptic dysfunction
PMID: 38242640
5
Schizophrenia-associated variant rs3935873 generates DOC2A∆Val217-Pro218 isoform with altered structure, divergent interactome, and schizophrenia-relevant behavioral effects when overexpressed
PMID: 41544168
6
DOC2A is identified as a novel candidate causal gene for Lewy body dementia risk through genome-wide association and gene prioritization analyses
PMID: 41068259
7
DOC2A is a shared genetic risk protein between Parkinson's disease and Lewy body dementia identified through proteome-wide association studies
PMID: 40202048
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
Abnormality of the skeletal systemOpen Targets
0.25Weak
Alzheimer diseaseOpen Targets
0.22Weak
obesityOpen Targets
0.22Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
schizophreniaOpen Targets
0.20Weak
autism spectrum disorderOpen Targets
0.16Weak
bipolar disorderOpen Targets
0.15Weak
obsessive-compulsive disorderOpen Targets
0.15Weak
insomniaOpen Targets
0.14Weak
anorexia nervosaOpen Targets
0.13Weak
Tourette syndromeOpen Targets
0.13Weak
lymphoid neoplasmOpen Targets
0.13Weak
overnutritionOpen Targets
0.13Weak
diabetic neuropathyOpen Targets
0.13Weak
attention deficit hyperactivity disorderOpen Targets
0.12Weak
major depressive disorderOpen Targets
0.12Weak
dental cariesOpen Targets
0.12Weak
metabolic syndromeOpen Targets
0.11Weak
denturesOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UNC13BProtein interaction97%SCGNProtein interaction90%UNC13AProtein interaction81%RPH3ALProtein interaction76%UBASH3BProtein interaction71%HIRIP3Protein interaction70%
Tissue Expression6 tissues
Ovary
100%
Brain
83%
Bone Marrow
58%
Lung
12%
Liver
10%
Heart
2%
Gene Interaction Network
Click a node to explore
DOC2AUNC13BSCGNUNC13ARPH3ALUBASH3BHIRIP3
PROTEIN STRUCTURE
Preparing viewer…
PDB4MJJ · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.55–0.97]
RankingsWhere DOC2A stands among ~20K protein-coding genes
  • #11,902of 20,598
    Most Researched30
  • #9,270of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedDOC2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Increased expression of DOC2A in human and rat temporal lobe epilepsy.
PMID: 30844661
Epilepsy Res · 2019
1.00
2
The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.
PMID: 28934389
Hum Mol Genet · 2017
0.90
3
Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
PMID: 38242640
Brain · 2024
0.80
4
DOC2A and DOC2B are sensors for neuronal activity with unique calcium-dependent and kinetic properties.
PMID: 16515538
J Neurochem · 2006
0.70
5
Genome-wide association study provides insights into the genetic basis of Lewy body dementia.
PMID: 41068259
Mol Psychiatry · 2025
0.60