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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PDZD11
PDZ domain containing 11
Chromosome X · Xq13.1
NCBI Gene: 51248Ensembl: ENSG00000120509.13HGNC: HGNC:28034UniProt: Q5EBL8
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
pore complexpore complex assemblyprotein bindingsynaptic vesicle transportneurodegenerative diseaseintellectual disability, X-linked 100hepatocellular carcinomaneoplasm
✦AI Summary

PDZD11 (PDZ domain containing 11) functions as a critical adaptor protein that regulates membrane protein localization and cell junction organization. The protein primarily operates through its interaction with PLEKHA7 at adherens junctions, where PDZD11's N-terminal region binds to PLEKHA7's tandem WW domains in a cooperative manner 1. This PLEKHA7-PDZD11 complex serves multiple regulatory functions: it stabilizes nectins by preventing their proteasome-mediated degradation and promotes efficient early junction assembly 2, mediates ADAM10 clustering at cell-cell junctions by facilitating PLEKHA7's interaction with TSPAN33 3, and regulates calcium homeostasis by controlling PMCA localization and activity 4. PDZD11 also enhances the function of the sodium-dependent multivitamin transporter (hSMVT) in intestinal epithelial cells, increasing biotin uptake by promoting transporter membrane expression 5. The protein shows tissue-specific expression patterns and differential association with tight junction proteins depending on cell type 6. Through these diverse interactions, PDZD11 plays important roles in epithelial barrier function, calcium handling, and membrane protein trafficking, with potential clinical relevance in hypertension and cellular responses to bacterial toxins.

Sources cited
1
PDZD11's N-terminal region binds cooperatively to PLEKHA7's tandem WW domains
PMID: 32371390
2
PLEKHA7-PDZD11 complex stabilizes nectins and promotes junction assembly
PMID: 27044745
3
Complex mediates ADAM10 clustering at junctions through TSPAN33 interaction
PMID: 30463011
4
PLEKHA7-PDZD11 complex regulates PMCA localization and calcium homeostasis
PMID: 35714771
5
PDZD11 enhances hSMVT function and biotin uptake in intestinal cells
PMID: 21183659
6
PDZD11 shows tissue-specific expression and junction protein associations
PMID: 28617990
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
intellectual disability, X-linked 100Open Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
rheumatoid arthritisOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
cystOpen Targets
0.01Suggestive
meningitisOpen Targets
0.01Suggestive
endometrioid carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
autoimmune thyroid diseaseOpen Targets
0.00Suggestive
Escherichia coli InfectionsOpen Targets
0.00Suggestive
human papilloma virus infectionOpen Targets
0.00Suggestive
liver cancerOpen Targets
0.00Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
Staphylococcus aureus infectionOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
lung carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP7AProtein interaction98%SLC5A6Protein interaction97%VDAC1Protein interaction90%SPG7Protein interaction90%KIF4AProtein interaction82%PLEKHA5Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Heart
87%
Liver
40%
Ovary
37%
Lung
34%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
PDZD11ATP7ASLC5A6VDAC1SPG7KIF4APLEKHA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5EBL8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.15 [0.06–0.46]
RankingsWhere PDZD11 stands among ~20K protein-coding genes
  • #8,353of 20,598
    Most Researched54
  • #2,600of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedPDZD11
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The PLEKHA7-PDZD11 complex regulates the localization of the calcium pump PMCA and calcium handling in cultured cells.
PMID: 35714771
J Biol Chem · 2022
1.00
2
A Dock-and-Lock Mechanism Clusters ADAM10 at Cell-Cell Junctions to Promote α-Toxin Cytotoxicity.
PMID: 30463011
Cell Rep · 2018
0.90
3
PLEKHA7: Cytoskeletal adaptor protein at center stage in junctional organization and signaling.
PMID: 27072621
Int J Biochem Cell Biol · 2016
0.80
4
Cell-specific diversity in the expression and organization of cytoplasmic plaque proteins of apical junctions.
PMID: 28617990
Ann N Y Acad Sci · 2017
0.70
5
Single-cell transcriptomic analysis of the role of HPV16-positive macrophages in cervical cancer prognosis.
PMID: 36519591
J Med Virol · 2023
0.60