HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLEKHF2
pleckstrin homology and FYVE domain containing 2
Chromosome 8 · 8q22.1
NCBI Gene: 79666Ensembl: ENSG00000175895.6HGNC: HGNC:20757UniProt: Q9H8W4
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtransport vesiclephosphatidylinositol bindingendosome organizationAbnormality of the skeletal systemTietze syndromeHypercholesterolemiathyroiditis
✦AI Summary

PLEKHF2 (pleckstrin homology and FYVE domain containing 2) is a phosphoinositide-binding protein that regulates endosomal trafficking and macropinocytosis through coordinated control of membrane dynamics and actin organization. Primary Function: PLEKHF2 functions as a coincidence detector of phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns4P, localizing to early endosomes and macropinosomes 1. It promotes early endosome fusion upstream of RAB5 and facilitates endosomal cargo transport by interacting with the tethering protein EEA1 2. Mechanism: PLEKHF2 coordinates actin delamination from nascent macropinosomes, enabling their navigation through subcortical actin networks toward the cell center 1. It recruits JIP4 to macropinosomal tubulating subdomains to promote membrane recycling 3. PLEKHF2 also interacts with Akt at lysosomes in a PtdIns3P-dependent manner to induce autophagy 4. Disease Relevance: PLEKHF2 variants associate with elevated intraocular pressure, a major glaucoma risk factor 5. PLEKHF2 loci show cross-ancestral association with systemic lupus erythematosus, particularly in patients with elevated interferon-alpha 6. Additionally, peptide regions derived from PLEKHF2 demonstrate antimicrobial properties against bacterial pathogens 7. Clinical Significance: PLEKHF2's role in macropinocytosis impacts cancer cell metabolism, as KRAS-transformed cells require PLEKHF2 for protein uptake and amino acid utilization 1.

Sources cited
1
PLEKHF2/Phafin2 is recruited to macropinosomes via coincidence detection of PtdIns3P and PtdIns4P, coordinates actin reorganization, and promotes macropinosome maturation and KRAS-transformed cancer cell metabolism
PMID: 34772942
2
PLEKHF2/Phafin2 interacts with EEA1 to promote early endosome fusion and control EGFR degradation and fluid-phase transport
PMID: 22816767
3
PLEKHF2/Phafin2 recruits JIP4 to macropinosomes in a PtdIns3P-dependent manner to promote recycling tubule formation
PMID: 34109410
4
PLEKHF2/Phafin2 interacts with Akt at lysosomes in a PtdIns3P-dependent manner to induce autophagy
PMID: 24416124
5
PLEKHF2 is identified as a candidate gene associated with intraocular pressure regulation in genome-wide association study
PMID: 36793389
6
PLEKHF2 locus shows cross-ancestral association with systemic lupus erythematosus in interferon-alpha subphenotype analysis
PMID: 25338677
7
PLEKHF2 PH and FYVE domains contain antimicrobial peptide regions with antibacterial properties against bacterial cell walls
PMID: 39396560
8
PLEKHF2/Phafin2 lysosomal localization depends on PtdIns3P recognition during autophagy
PMID: 31351587
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
Tietze syndromeOpen Targets
0.23Weak
HypercholesterolemiaOpen Targets
0.08Suggestive
thyroiditisOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.03Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.03Suggestive
familial hypobetalipoproteinemia 1Open Targets
0.03Suggestive
Congenital intrinsic factor deficiencyOpen Targets
0.03Suggestive
hereditary intrinsic factor deficiencyOpen Targets
0.03Suggestive
Rh deficiency syndromeOpen Targets
0.03Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.03Suggestive
sideroblastic anemia 3Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPRASP1Shared pathway50%PLEKHF1Shared pathway40%FHIP1BShared pathway33%ANXA8Shared pathway33%ANXA8L1Shared pathway33%HMGXB4Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
15%
Heart
15%
Liver
11%
Brain
8%
Ovary
6%
Gene Interaction Network
Click a node to explore
PLEKHF2GPRASP1PLEKHF1FHIP1BANXA8ANXA8L1HMGXB4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H8W4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.87Intermediate
Observed/Expected LoF0.27 [0.13–0.61]
RankingsWhere PLEKHF2 stands among ~20K protein-coding genes
  • #11,035of 20,598
    Most Researched35
  • #4,249of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedPLEKHF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The phosphoinositide coincidence detector Phafin2 promotes macropinocytosis by coordinating actin organisation at forming macropinosomes.
PMID: 34772942
Nat Commun · 2021
1.00
2
Two novel antimicrobial peptides P
PMID: 39396560
Fish Shellfish Immunol · 2024
0.90
3
Genome-wide association study finds multiple loci associated with intraocular pressure in HS rats.
PMID: 36793389
Front Genet · 2022
0.80
4
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
PMID: 25338677
Genes Immun · 2015
0.70
5
JIP4 is recruited by the phosphoinositide-binding protein Phafin2 to promote recycling tubules on macropinosomes.
PMID: 34109410
J Cell Sci · 2021
0.60