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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLXND1
plexin D1
Chromosome 3 · 3q22.1
NCBI Gene: 23129Ensembl: ENSG00000004399.14HGNC: HGNC:9107UniProt: Q9Y4D7
62PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein domain specific bindinglamellipodiumnegative regulation of cell adhesioncongenital heart defects, multiple types, 9Truncus arteriosustype 2 diabetes mellitusMoebius syndrome
✦AI Summary

PLXND1 (plexin D1) is a cell-surface receptor for semaphorins (particularly SEMA3A, SEMA3C, SEMA3E, and SEMA3D) that regulates cell migration, axon guidance, and vascular development 1. Beyond canonical ligand-binding, PLXND1 functions as a mechanosensor in endothelial cells, forming a mechanocomplex with neuropilin-1 and VEGFR2 to detect shear stress and regulate site-specific atherosclerotic lesion distribution 2. This dual functionality—ligand sensing and mechanosensing—is achieved through distinct molecular conformations of the receptor. Clinically, PLXND1 mutations cause congenital neurodevelopmental disorders; a missense variant (p.V964M) was identified in Poland-Möbius syndrome, implicating PLXND1 in cranial nerve and vasculature development 3. In pathological contexts, PLXND1 contributes to multiple diseases: it mediates perineural invasion and metastasis in pancreatic cancer via SEMA3D signaling 1, promotes neural lineage plasticity in treatment-resistant prostate cancer 4, and drives lung fibrosis through SEMA3E-dependent fibroblast activation 5. High PLXND1 expression associates with poor prognosis in hepatocellular carcinoma and predicts immune infiltration patterns 6. In idiopathic pulmonary fibrosis, PLXND1 acts as a pro-fibrotic driver and endothelial senescence-related gene 7. Emerging evidence suggests PLXND1 participates in retinal inflammation via CD64+ monocyte-RPE crosstalk in age-related macular degeneration 8.

Sources cited
1
PLXND1 is activated by SEMA3D to promote pancreatic cancer perineural invasion and metastasis
PMID: 31163177
2
PLXND1 functions as a mechanosensor in endothelial cells and regulates atherosclerotic lesion distribution
PMID: 32025034
3
PLXND1 mutations cause Poland-Möbius syndrome, implicating the gene in cranial nerve development
PMID: 36581828
4
PLXND1 promotes neural lineage plasticity in treatment-resistant prostate cancer and is associated with poor prognosis
PMID: 38877132
5
SEMA3E-PLXND1 axis drives lung fibrosis through ErbB2-mediated fibroblast activation
PMID: 40112179
6
PLXND1 expression correlates with clinical outcomes and immune infiltrates in hepatocellular carcinoma
PMID: 33489909
7
PLXND1 acts as a pro-fibrotic driver in idiopathic pulmonary fibrosis related to endothelial cell senescence
PMID: 41351492
8
SEMA3C-PLXND1 signaling mediates monocyte-RPE cell interactions in age-related macular degeneration
PMID: 40952055
Disease Associationsⓘ21
congenital heart defects, multiple types, 9Open Targets
0.60Moderate
Truncus arteriosusOpen Targets
0.56Moderate
type 2 diabetes mellitusOpen Targets
0.50Moderate
Moebius syndromeOpen Targets
0.48Moderate
diabetes mellitusOpen Targets
0.45Moderate
coronary artery diseaseOpen Targets
0.43Moderate
persistent truncus arteriosusOpen Targets
0.38Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
HeadacheOpen Targets
0.33Weak
metabolic syndromeOpen Targets
0.32Weak
open-angle glaucomaOpen Targets
0.30Weak
glaucomaOpen Targets
0.29Weak
breast cancerOpen Targets
0.27Weak
Kleine-Levin SyndromeOpen Targets
0.14Weak
Mobius syndromeOpen Targets
0.13Weak
prostate carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
osteoarthritis, kneeOpen Targets
0.09Suggestive
HeterotaxiaOpen Targets
0.07Suggestive
systemic sclerodermaOpen Targets
0.07Suggestive
Congenital heart defects, multiple types, 9UniProt
Pathogenic Variants6
NM_015103.3(PLXND1):c.2695_2696del (p.Leu899fs)Likely pathogenic
not provided
★☆☆☆2025→ Residue 899
NM_015103.3(PLXND1):c.880_881del (p.Gln294fs)Pathogenic
Congenital heart defects, multiple types, 9|not provided
★☆☆☆2025→ Residue 294
NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)Pathogenic
Congenital heart defects, multiple types, 9
☆☆☆☆2023→ Residue 1299
NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)Pathogenic
Congenital heart defects, multiple types, 9
☆☆☆☆2023→ Residue 1775
NM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)Pathogenic
Congenital heart defects, multiple types, 9
☆☆☆☆2023→ Residue 218
NM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)Pathogenic
Congenital heart defects, multiple types, 9
☆☆☆☆2023→ Residue 911
View on ClinVar ↗
Related Genes
SEMA3DProtein interaction100%SEMA3CProtein interaction99%SEMA3BProtein interaction99%SEMA3AProtein interaction95%SEMA4AProtein interaction94%KDRProtein interaction94%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
67%
Heart
63%
Brain
39%
Liver
24%
Ovary
24%
Gene Interaction Network
Click a node to explore
PLXND1SEMA3DSEMA3CSEMA3BSEMA3ASEMA4AKDR
PROTEIN STRUCTURE
Preparing viewer…
PDB3H6N · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.32 [0.25–0.40]
RankingsWhere PLXND1 stands among ~20K protein-coding genes
  • #7,496of 20,598
    Most Researched62
  • #3,378of 5,498
    Most Pathogenic Variants6
  • #2,017of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedPLXND1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Axon Guidance Molecules Promote Perineural Invasion and Metastasis of Orthotopic Pancreatic Tumors in Mice.
PMID: 31163177
Gastroenterology · 2019
1.00
2
The guidance receptor plexin D1 is a mechanosensor in endothelial cells.
PMID: 32025034
Nature · 2020
0.90
3
Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.
PMID: 36581828
BMC Pediatr · 2022
0.80
4
Plexin D1 emerges as a novel target in the development of neural lineage plasticity in treatment-resistant prostate cancer.
PMID: 38877132
Oncogene · 2024
0.70
5
Semaphorin 3E-Plexin D1 Axis Drives Lung Fibrosis through ErbB2-Mediated Fibroblast Activation.
PMID: 40112179
Adv Sci (Weinh) · 2025
0.60