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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PFN4
profilin family member 4
Chromosome 2 · 2p23.3
NCBI Gene: 375189Ensembl: ENSG00000176732.8HGNC: HGNC:31103UniProt: Q8NHR9
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell cortexactin monomer bindingacrosome assemblyspermatogenesisazoospermiaspermatogenic failure 78deafness-infertility syndromespermatogenic failure 65
✦AI Summary

PFN4 (profilin family member 4) is a testis-specific protein essential for male fertility, functioning distinctly from somatic profilin isoforms. Unlike canonical profilins, PFN4 does not bind actin or poly-L-proline in vitro; instead, it selectively binds phosphoinositides including PtdIns(3)P, PtdIns(4,5)P2, PtdIns(4)P, and phosphatidic acid 1. During spermiogenesis, PFN4 localizes to the acroplaxome-manchette complex and is required for manchette development and acrosome biogenesis 2. PFN4-deficient mice produce sperm with severely impaired manchette formation, disrupted microtubular organization, and defective acrosome development due to dysregulation of Golgi membrane trafficking and altered PI3K/AKT/mTOR signaling 2. These ultrastructural defects result in reduced sperm motility and amorphous head shape 2. Notably, PFN4-deficient sperm retain fertilization capacity in zona-free conditions, suggesting potential therapeutic interventions for PFN4-related human infertility 2. Single-cell chr2 accessibility analysis reveals unique regulatory regions upstream of PFN4 that are highly accessible during human spermatogenesis, underscoring its importance in male germ cell development 3.

Sources cited
1
PFN4 binds phosphoinositides but not actin, poly-L-proline, or proline-rich proteins; localizes to acroplaxome-manchette complex
PMID: 19419568
2
PFN4 is required for manchette development and acrosome biogenesis; deficiency causes disrupted microtubular organization, impaired Golgi function, and altered PI3K/AKT/mTOR signaling
PMID: 35950913
3
PFN4 is involved in actin cytoskeletal organization during meiosis; displays unique chromatin accessibility during human spermatogenesis
PMID: 33438010
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Suggestive
spermatogenic failure 78Open Targets
0.08Suggestive
deafness-infertility syndromeOpen Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.08Suggestive
spermatogenic failure 72Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.08Suggestive
spermatogenic failure 18Open Targets
0.08Suggestive
spermatogenic failure 27Open Targets
0.08Suggestive
spermatogenic failure 46Open Targets
0.08Suggestive
spermatogenic failure 91Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 6Open Targets
0.08Suggestive
spermatogenic failure 56Open Targets
0.08Suggestive
spermatogenic failure 92Open Targets
0.08Suggestive
spermatogenic failure 94Open Targets
0.08Suggestive
spermatogenic failure 54Open Targets
0.08Suggestive
spermatogenic failure 42Open Targets
0.08Suggestive
spermatogenic failure 85Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FLNAProtein interaction100%ACTBProtein interaction98%ACTG1Protein interaction98%CFL1Protein interaction98%CFL2Protein interaction98%FLNBProtein interaction98%
Tissue Expression6 tissues
Ovary
100%
Heart
83%
Brain
42%
Lung
34%
Bone Marrow
30%
Liver
29%
Gene Interaction Network
Click a node to explore
PFN4FLNAACTBACTG1CFL1CFL2FLNB
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8NHR9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.70 [0.40–1.32]
RankingsWhere PFN4 stands among ~20K protein-coding genes
  • #18,178of 20,598
    Most Researched6
  • #13,849of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedPFN4
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Single-cell ATAC-Seq reveals cell type-specific transcriptional regulation and unique chromatin accessibility in human spermatogenesis.
PMID: 33438010
Hum Mol Genet · 2022
1.00
2
Profilin 3 genetic architecture in glioma formalin fixed paraffin embedded (FFPE) archive.
PMID: 33775850
Gene · 2021
0.80
3
Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids.
PMID: 19419568
BMC Cell Biol · 2009
0.60
4
The role of profilin complexes in cell motility and other cellular processes.
PMID: 15308213
Trends Cell Biol · 2004
0.40
5
PFN4 is required for manchette development and acrosome biogenesis during mouse spermiogenesis.
PMID: 35950913
Development · 2022
0.20