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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACAP3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
Chromosome 1 · 1p36.33
NCBI Gene: 116983Ensembl: ENSG00000131584.20HGNC: HGNC:16754UniProt: Q8WTZ1
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingneuron migrationregulation of neuron projection developmentactin cytoskeleton organizationneurodegenerative diseasehair colorpapillary thyroid carcinomaepilepsy
✦AI Summary

ACAP3 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 3) is a GTPase-activating protein that negatively regulates the small GTPase Arf6 with high specificity 1. In neurons, ACAP3 promotes neurite outgrowth through its Arf6-specific GAP activity, as ACAP3 knockdown impairs neurite development, which is rescued by wild-type but not catalytically-deficient ACAP3 1. ACAP3 functions as a tumor suppressor in multiple cancers by regulating receptor trafficking and degradation. In lung adenocarcinoma, ACAP3 suppresses EGFR signaling and cell proliferation via its GAP activity, controlling EGFR recycling and lysosomal degradation 2. Similarly, in papillary thyroid carcinoma, ACAP3 overexpression inhibits cell viability, migration, and invasion while promoting apoptosis through AKT and p53 pathway modulation 3. ACAP3 expression is regulated by epigenetic mechanisms; Myc-mediated DNA hypermethylation suppresses ACAP3 in lung cancer 2, while HDAC2 negatively regulates ACAP3 in thyroid cancer 3. Genetic variations in ACAP3 associate with increased epilepsy risk, particularly affecting neuronal morphogenesis and migration 4. ACAP3 also emerges as a novel candidate susceptibility gene for breast and ovarian cancer through trans-eQTL regulatory mechanisms 5. These findings establish ACAP3 as a multifunctional regulator of neuronal development and a tumor suppressor with diagnostic and therapeutic potential.

Sources cited
1
ACAP3 suppresses EGFR signaling and lung adenocarcinoma proliferation via its GAP activity, regulating EGFR recycling and lysosomal degradation
PMID: 41520057
2
ACAP3 genetic and epigenetic polymorphisms associate with epilepsy risk and affect neuronal morphogenesis and migration
PMID: 33276684
3
ACAP3 downregulated by HDAC2 suppresses papillary thyroid carcinoma proliferation, migration, and invasion through AKT/p53 pathway modulation
PMID: 39098591
4
ACAP3 identified as novel cancer susceptibility gene for breast and ovarian cancer through trans-eQTL mechanisms
PMID: 38723630
5
ACAP3 identified as CAD-associated locus involving super enhancer SNPs affecting transcriptional regulation
PMID: 29491472
6
ACAP3 specifically regulates Arf6 GTPase activity and promotes neurite outgrowth in hippocampal neurons through its GAP activity
PMID: 27330119
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
hair colorOpen Targets
0.05Suggestive
papillary thyroid carcinomaOpen Targets
0.03Suggestive
epilepsyOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
Hallux valgusOpen Targets
0.02Suggestive
Zika virus infectious diseaseOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.01Suggestive
SeizureOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.00Suggestive
oligodendrogliomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
cerebellar ataxiaOpen Targets
0.00Suggestive
nervous system diseaseOpen Targets
0.00Suggestive
StrabismusOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FRMD7Shared pathway33%CEP85LShared pathway33%SMTNL2Shared pathway33%THSD7AShared pathway33%PHACTR3Shared pathway33%SPECC1Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
85%
Liver
79%
Lung
64%
Heart
43%
Brain
37%
Gene Interaction Network
Click a node to explore
ACAP3FRMD7CEP85LSMTNL2THSD7APHACTR3SPECC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WTZ1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.53–0.82]
RankingsWhere ACAP3 stands among ~20K protein-coding genes
  • #14,344of 20,598
    Most Researched19
  • #6,899of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedACAP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Myc-mediated epigenetic silencing of ACAP3 promotes lung adenocarcinoma proliferation via regulating EGFR dynamics.
PMID: 41520057
Br J Cancer · 2026
1.00
2
Length Polymorphism and Methylation Status of UPS29 Minisatellite of the
PMID: 33276684
Int J Mol Sci · 2020
0.90
3
ACAP3 negatively regulated by HDAC2 inhibits the malignant development of papillary thyroid carcinoma cells.
PMID: 39098591
Int J Biochem Cell Biol · 2024
0.80
4
PMID: 38014246
bioRxiv · 2023
0.70
5
Integrative functional analysis of super enhancer SNPs for coronary artery disease.
PMID: 29491472
J Hum Genet · 2018
0.60