HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AGAP3
ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
Chromosome 7 · 7q36.1
NCBI Gene: 116988Ensembl: ENSG00000133612.20HGNC: HGNC:16923UniProt: C9J975
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmGTPase activator activitypolyubiquitin modification-dependent protein bindingcell peripheryAbnormality of the skeletal systemcorneal degenerationcystacute myeloid leukemia
✦AI Summary

AGAP3 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 3) is a multifunctional signaling protein with GTPase-activating protein activity for ADP ribosylation factors. Primary function: AGAP3 is an essential component of the NMDA receptor signaling complex that links NMDA receptor activation to AMPA receptor trafficking during long-term potentiation, regulating both Ras/ERK and Arf6 signaling pathways 1. It also interacts with microtubule-associated proteins within the CLASP2 protein network 2. Mechanism: AGAP3 contains multiple signaling domains including a GTPase-like domain, pleckstrin homology domain, and ArfGAP domain. A splicing variant, CRMP5-associated GTPase (CRAG), upregulates c-Jun expression and enhances cell proliferation through activator protein 1 activation 3. Disease relevance: AGAP3 is implicated in multiple malignancies. AGAP3 gene fusions with BRAF are present in melanoma and contribute to acquired vemurafenib resistance in BRAF V600E mutant tumors, though cells remain sensitive to MEK inhibitors 45. AGAP3 fusions with RET occur in Spitz neoplasms 6 and low-grade serous ovarian carcinomas 7. AGAP3 overexpression is significantly elevated in colorectal cancer compared to normal tissue 3. Clinical significance: Detection of AGAP3-BRAF fusions in melanoma may predict MEK inhibitor sensitivity, with documented long-term responses to combination BRAF/MEK inhibitor therapy 45.

Sources cited
1
AGAP3 is an NMDA receptor-interacting protein that links NMDA receptor activation to AMPA receptor trafficking and regulates Ras/ERK and Arf6 signaling during LTP
PMID: 23904596
2
AGAP3 is a GTPase-activating protein enriched in the CLASP2 protein network, which associates with microtubule-associated proteins
PMID: 28550165
3
AGAP3/CRAG expression is significantly increased in colorectal cancer and adenoma; CRAG overexpression upregulates c-Jun and increases cell proliferation via activator protein 1 activation
PMID: 30591445
4
AGAP3-BRAF fusion gene acquisition mediates vemurafenib resistance in BRAF V600E melanoma while maintaining sensitivity to MEK inhibitors
PMID: 28539463
5
AGAP3-BRAF fusion identified in melanoma with documented clinical response to trametinib; fusions enriched in triple wild-type melanomas with TERT promoter mutations
PMID: 35871080
6
AGAP3::RET represents a novel fusion identified in Spitz neoplasms, including atypical Spitz tumors
PMID: 39986469
7
AGAP3 is a pathogenic BRAF fusion partner identified in low-grade serous ovarian carcinoma
PMID: 34568720
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.18Weak
corneal degenerationOpen Targets
0.04Suggestive
cystOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
Acute LeukemiaOpen Targets
0.02Suggestive
cryptococcal meningitisOpen Targets
0.02Suggestive
Townes-Brocks syndromeOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cerebral cavernous malformationOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
meningeal tuberculosisOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
sarcomaOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
AIDSOpen Targets
0.01Suggestive
colorectal adenomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TANC1Protein interaction99%KBTBD13Shared pathway33%LRRC75AShared pathway33%KLHL30Shared pathway33%KLHL38Shared pathway33%KLHL10Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Lung
91%
Brain
85%
Liver
75%
Heart
36%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
AGAP3TANC1KBTBD13LRRC75AKLHL30KLHL38KLHL10
PROTEIN STRUCTURE
Preparing viewer…
PDB3IHW · 1.92 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.26 [0.18–0.36]
RankingsWhere AGAP3 stands among ~20K protein-coding genes
  • #7,428of 20,598
    Most Researched62
  • #1,606of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedAGAP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of fusions with potential clinical significance in melanoma.
PMID: 35871080
Mod Pathol · 2022
1.00
2
Clinical, Morphologic, and Genomic Findings in Spitz Tumors With RET Fusion: A Series of 31 Cases.
PMID: 39986469
Mod Pathol · 2025
0.90
3
AGAP3 and Arf6 regulate trafficking of AMPA receptors and synaptic plasticity.
PMID: 23904596
J Neurosci · 2013
0.80
4
Exome sequencing identifies predisposing and fusion gene in ganglioneuroma, ganglioneuroblastoma and neuroblastoma.
PMID: 31698611
Math Biosci Eng · 2019
0.70
5
CRMP5-associated GTPase (
PMID: 30591445
Anticancer Res · 2019
0.60