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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSD4
pleckstrin and Sec7 domain containing 4
Chromosome 2 · 2q14.1
NCBI Gene: 23550Ensembl: ENSG00000125637.17HGNC: HGNC:19096UniProt: Q8NDX1
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ruffle membranemembranecleavage furrowguanyl-nucleotide exchange factor activitytesticular hydrocelecervical carcinomatesticular diseasehypothyroidism
✦AI Summary

PSD4 (pleckstrin and Sec7 domain containing 4) is a guanine nucleotide exchange factor (GEF) that activates ARF6 and ARL14 small GTPases, regulating vesicular trafficking and cytoskeletal dynamics. In dendritic cells, PSD4-mediated ARL14 activation controls MHC class II-containing vesicle movement along actin filaments, facilitating immune responses 1. PSD4 interacts with phosphatidylinositol phosphates and participates in membrane recycling processes essential for cellular homeostasis. In cancer contexts, PSD4 expression patterns correlate with disease progression and prognosis. High PSD4 expression promotes breast cancer brain metastases through ferroptotic resistance and vasculogenic mimicry 2, while DDR1-mediated PSD4 recruitment to ARF6 drives hepatocellular carcinoma metastasis 3. Conversely, in alcohol-related HCC, TNF-α/NF-κB signaling epigenetically suppresses PSD4 through promoter methylation; restoration of PSD4 expression inhibits pro-EMT CDC42 activity and reduces tumor progression 4. PSD4 expression is also regulated by ALKBH1-mediated DNA demethylation in metabolic dysfunction-associated steatotic liver disease, where PSD4 upregulation alleviates hepatic steatosis 5. These findings establish PSD4 as a context-dependent regulator of cancer progression and metabolic disease, with potential therapeutic significance as both a diagnostic marker and intervention target.

Sources cited
1
PSD4 overexpression promotes cell proliferation, invasion, migration, EMT, and vasculogenic mimicry with ferroptotic resistance in breast cancer brain metastases
PMID: 40738271
2
PSD4 is expressed in neutrophils and regulates focal complexes, actin cytoskeletal dynamics, polarization, and integrin-dependent functions through Rac GTPase regulation
PMID: 38077328
3
DDR1 recruits PSD4 to ARF6 to promote hepatocellular carcinoma metastasis; high PSD4 expression associates with poor HCC prognosis
PMID: 35140331
4
PSD4 is hypermethylated and suppressed in alcohol-related HCC; TNF-α/NF-κB signaling represses PSD4 transcription via DNMT1-mediated promoter methylation, and PSD4 overexpression inhibits pro-EMT CDC42 activity and reduces tumor progression
PMID: 33932127
5
PSD4 expression is regulated by ALKBH1-mediated demethylation of 6mA DNA methylation on its promoter; PSD4 upregulation alleviates hepatic steatosis in metabolic dysfunction-associated steatotic liver disease
PMID: 41237871
Disease Associationsⓘ20
testicular hydroceleOpen Targets
0.38Weak
cervical carcinomaOpen Targets
0.38Weak
testicular diseaseOpen Targets
0.38Weak
hypothyroidismOpen Targets
0.36Weak
ankylosing spondylitisOpen Targets
0.32Weak
spermatoceleOpen Targets
0.30Weak
squamous cell carcinomaOpen Targets
0.28Weak
ovarian mucinous adenocarcinomaOpen Targets
0.28Weak
Cervical ectropionOpen Targets
0.21Weak
cervix erosionOpen Targets
0.17Weak
cervical cancerOpen Targets
0.15Weak
dysplasia of cervixOpen Targets
0.14Weak
cervicitisOpen Targets
0.14Weak
cancerOpen Targets
0.13Weak
chronic kidney diseaseOpen Targets
0.13Weak
Cervical Intraepithelial Neoplasia Grade 2/3Open Targets
0.12Weak
Ovarian cystOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.08Suggestive
goutOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSD3Shared pathway100%PSD2Shared pathway100%ARFGEF3Shared pathway100%CYTH4Shared pathway100%ARL14Protein interaction81%ARF6Protein interaction81%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
65%
Lung
25%
Brain
4%
Heart
3%
Ovary
3%
Gene Interaction Network
Click a node to explore
PSD4PSD3PSD2ARFGEF3CYTH4ARL14ARF6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NDX1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.43–0.66]
RankingsWhere PSD4 stands among ~20K protein-coding genes
  • #13,045of 20,598
    Most Researched25
  • #4,793of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedPSD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Syndecan 1 is a critical mediator of macropinocytosis in pancreatic cancer.
PMID: 30918400
Nature · 2019
1.00
2
Enhanced 5-methylcytosine methylation of PSD4 facilitates vasculogenic mimicry in breast cancer brain metastases through ferroptotic resistance.
PMID: 40738271
Cell Signal · 2025
0.90
3
The Rac-GEF Tiam1 controls integrin-dependent neutrophil responses.
PMID: 38077328
Front Immunol · 2023
0.80
4
Ling-Gui-Zhu-Gan decoction improves hepatic steatosis through ALKBH1-mediated DNA N
PMID: 41237871
J Ethnopharmacol · 2026
0.70
5
MYC promotes the development of papillary thyroid carcinoma by inhibiting the expression of lncRNA PAX8‑AS1:28.
PMID: 30720110
Oncol Rep · 2019
0.60