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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PATJ
PATJ crumbs cell polarity complex component
Chromosome 1 Β· 1p31.3
NCBI Gene: 10207Ensembl: ENSG00000132849.22HGNC: HGNC:28881UniProt: A0A2R8Y549
98PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomebicellular tight junctionprotein bindingperinuclear region of cytoplasmAbnormality of the skeletal systemhypertensionessential hypertensiontype 2 diabetes mellitus
✦AI Summary

PATJ (PALS1-associated tight junction protein) is a scaffolding protein essential for epithelial cell polarity and tight junction formation 12. It facilitates the localization of proteins to the cell membrane and connects apical and lateral tight junction components, stabilizing the Crumbs3 complex and regulating spatial concentration of junction proteins 3. PATJ positively regulates cell migration and microtubule elongation, potentially through facilitating localization of polarity regulators at cell leading edges 4. Beyond structural roles, PATJ functions in cellular stress responses and immune activation. PATJ regulates the YAP1 signaling pathway and cell proliferation, with deletion causing transcriptional reprogramming affecting vascular development and metabolism genes 5. The PATJ/MPZ-1 homolog protects against hypoxic stress in neurons, critical for ischemic stroke recovery 5. Additionally, PATJ's PDZ domains facilitate immunological synapse formation between T cells and antigen-presenting cells, promoting T cell activation and enhancing CAR-T cell cytotoxicity 6. Clinically, PATJ variants associate with stroke outcome: low-frequency variants (rs76221407) correlate with worse functional recovery at 3 months post-stroke 7. PATJ downregulation after ischemic stroke promotes endothelial-to-mesenchymal transition through Hippo/Notch/PI3K signaling, paradoxically associated with functional independence 8. PATJ also associates with daytime napping behavior and cardiometabolic phenotypes 9.

Sources cited
1
PATJ required for tight junction formation and epithelial apico-basal polarity
PMID: 11927608
2
PATJ facilitates protein localization to cell membrane and epithelial polarity
PMID: 16678097
3
PATJ connects and stabilizes apical and lateral tight junction components, regulates Crumbs3 complex
PMID: 16129888
4
PATJ is part of apical polarity complexes crucial for tight junction formation
PMID: 18005931
5
PATJ regulates cell stress responses, YAP1 signaling, and PATJ/MPZ-1 protects against hypoxic stress in stroke
PMID: 40472775
6
PATJ rs76221407 variants associate with worse ischemic stroke functional outcome at 3 months
PMID: 30582445
7
PATJ downregulation post-stroke promotes endothelial-to-mesenchymal transition via Hippo/Notch/PI3K signaling
PMID: 38368420
8
PATJ PDZ domains facilitate immunological synapse formation and promote T cell activation
PMID: 40341028
9
PATJ variants associated with daytime napping and cardiometabolic outcomes including blood pressure and waist circumference
PMID: 33568662
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.49Moderate
hypertensionOpen Targets
0.42Moderate
essential hypertensionOpen Targets
0.42Moderate
type 2 diabetes mellitusOpen Targets
0.41Moderate
circadian rhythmOpen Targets
0.40Weak
obesityOpen Targets
0.39Weak
Abruptio PlacentaeOpen Targets
0.33Weak
Sjogren syndromeOpen Targets
0.32Weak
narcolepsy without cataplexyOpen Targets
0.32Weak
preeclampsiaOpen Targets
0.31Weak
placental retentionOpen Targets
0.29Weak
diabetic ketoacidosisOpen Targets
0.27Weak
liver diseaseOpen Targets
0.27Weak
cervical carcinomaOpen Targets
0.26Weak
poisoningOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.24Weak
fracture of pelvisOpen Targets
0.24Weak
metabolic syndromeOpen Targets
0.22Weak
AphasiaOpen Targets
0.22Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
NF2Protein interaction100%NPHP1Protein interaction100%UBE3AProtein interaction100%MPDZProtein interaction100%PARD3Protein interaction100%AMOTProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
22%
Lung
17%
Ovary
16%
Brain
13%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
PATJNF2NPHP1UBE3AMPDZPARD3AMOT
PROTEIN STRUCTURE
Preparing viewer…
PDB4Q2N Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.59–0.84]
RankingsWhere PATJ stands among ~20K protein-coding genes
  • #4,901of 20,598
    Most Researched98 Β· top quartile
  • #7,237of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedPATJ
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PATJ regulates cell stress responses and vascular remodeling post-stroke.
PMID: 40472775
Redox Biol Β· 2025
1.00
2
PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.
PMID: 30582445
Circ Res Β· 2019
0.90
3
Genetic determinants of daytime napping and effects on cardiometabolic health.
PMID: 33568662
Nat Commun Β· 2021
0.80
4
Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis.
PMID: 38368420
Cell Death Discov Β· 2024
0.70
5
PATJ connects and stabilizes apical and lateral components of tight junctions in human intestinal cells.
PMID: 16129888
J Cell Sci Β· 2005
0.60