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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AGFG2
ArfGAP with FG repeats 2
Chromosome 7 Β· 7q22.1
NCBI Gene: 3268Ensembl: ENSG00000106351.14HGNC: HGNC:5177UniProt: A4D2D6
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneacrosome assemblyspermatid nucleus differentiationcytoplasmBlackfan-Diamond anemiahereditary persistence of fetal hemoglobin-sickle cell disease syndromeHereditary persistence of fetal hemoglobin - beta-thalassemiainosine triphosphatase deficiency
✦AI Summary

AGFG2 (ArfGAP with FG repeats 2) is an Arf GTPase-activating protein involved in vesicular trafficking and secretory pathways. As an ArfGAP, AGFG2 mediates GTP hydrolysis of ADP-ribosylation factors (Arfs), which are critical for forming transport intermediates and regulating membrane traffic 1. Unlike the canonical model of ArfGAPs as simple negative regulators, AGFG2 functions actively in cargo sorting and vesicle dynamics 1. Mechanistically, AGFG2 is part of the evolutionarily conserved AGFG family, which emerged in mammals through duplication of AGFG1 and contains a "core module" conserved from invertebrates to humans 2. In endothelial cells, AGFG2 specifically regulates von Willebrand factor (vWF) exocytosis from Weibel-Palade bodies in response to physiological stimuli 1. Disease relevance includes potential involvement in HIV-1 pathogenesis; AGFG2 was identified among disease-specific genes in HIV-1 progression analysis, suggesting a cellular factor role in viral replication 3. The protein localizes to membranes and cytoplasmic compartments, consistent with its role in vesicular transport and potentially in acrosome assembly and spermatid differentiation based on GO annotations. Clinical significance relates to vascular biology and hemostasis through vWF regulation.

Sources cited
1
AGFG2 is an ArfGAP that regulates vWF exocytosis from Weibel-Palade bodies and functions in membrane trafficking beyond simple GTPase inhibition
PMID: 34369554
2
AGFG2 evolved in mammals through duplication of AGFG1 and contains evolutionarily conserved core modules
PMID: 21284487
3
AGFG2 was identified as a disease-specific gene associated with HIV-1 progression
PMID: 29787933
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
amyotrophic lateral sclerosisOpen Targets
0.06Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
alpha thalassemia spectrumOpen Targets
0.05Suggestive
Alpha-thalassemiaOpen Targets
0.05Suggestive
beta thalassemiaOpen Targets
0.05Suggestive
Beta-thalassemiaOpen Targets
0.05Suggestive
beta-thalassemia HBB/LCRBOpen Targets
0.05Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.05Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
EPS15L1Protein interaction87%EPS15Protein interaction72%AGFG1Shared pathway67%IZUMO3Shared pathway50%GARIN1AShared pathway50%SPACA1Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Ovary
48%
Bone Marrow
20%
Brain
19%
Heart
19%
Lung
12%
Gene Interaction Network
Click a node to explore
AGFG2EPS15L1EPS15AGFG1IZUMO3GARIN1ASPACA1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt O95081
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.47–0.87]
RankingsWhere AGFG2 stands among ~20K protein-coding genes
  • #11,656of 20,598
    Most Researched31
  • #7,714of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedAGFG2
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
THD-Tricluster: A robust triclustering technique and its application in condition specific change analysis in HIV-1 progression data.
PMID: 29787933
Comput Biol Chem Β· 2018
1.00
2
Organization patterns of the AGFG genes: an evolutionary study.
PMID: 21284487
Immunopharmacol Immunotoxicol Β· 2011
0.67
3
Arf GTPase-activating proteins SMAP1 and AGFG2 regulate the size of Weibel-Palade bodies and exocytosis of von Willebrand factor.
PMID: 34369554
Biol Open Β· 2021
0.33