HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SEMA3E
semaphorin 3E
Chromosome 7 Β· 7q21.11
NCBI Gene: 9723Ensembl: ENSG00000170381.16HGNC: HGNC:10727UniProt: O15041
51PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsemaphorin receptor bindingreceptor ligand activitygonadotrophin-releasing hormone neuronal migration to the hypothalamusCHARGE syndromeopen-angle glaucomahypogonadotropic hypogonadism 5 with or without anosmiaCHD7-related CHARGE syndrome
✦AI Summary

SEMA3E (semaphorin 3E) is a secreted ligand that primarily functions through binding to its receptor Plexin-D1, independent of neuropilins 1. The SEMA3E-Plexin-D1 axis mediates cytoskeletal reorganization and cell retraction, playing critical roles in vascular patterning and angiogenesis regulation during embryogenesis and postnatal development 1. In pathological contexts, SEMA3E has emerged as a significant contributor to fibrotic diseases. In idiopathic pulmonary fibrosis (IPF), Furin-mediated cleavage of full-length P87-SEMA3E into bioactive P61-SEMA3E drives fibroblast activation, proliferation, and migration through ErbB2 phosphorylation 2. Elevated plasma SEMA3E levels in IPF patients negatively correlate with lung function 2. Beyond fibrosis, SEMA3E participates in macrophage-fibroblast crosstalk during organ injury-induced fibrosis 3 and is implicated in endometrial pathology, where aberrant SEMA3 signaling contributes to thin endometrium through compromised stromal cell proliferation 4. SEMA3E also functions in epileptogenesis, with elevated plasma levels correlating with seizure frequency and enriched expression in excitatory neurons 5. Additionally, SEMA3E represents an upregulated pro-inflammatory marker in type 2 diabetes mellitus 6. These findings position SEMA3E as a multifunctional pathogenic mediator with therapeutic potential across fibrotic, neurological, and metabolic diseases.

Sources cited
1
SEMA3E-Plexin-D1 axis drives lung fibrosis through Furin-mediated cleavage of P87-SEMA3E to P61-SEMA3E, promoting fibroblast activation via ErbB2 phosphorylation; elevated plasma SEMA3E negatively correlates with lung function in IPF patients
PMID: 40112179
2
SEMA3E directly binds Plexin-D1 without neuropilins and participates in vascular development, axon guidance, and synapse formation through different modes of action
PMID: 23270617
3
SEMA3 participates in macrophage-fibroblast crosstalk orchestrating fibroblast activation during organ injury-induced fibrosis
PMID: 36807143
4
Aberrant SEMA3 signaling contributes to thin endometrium pathogenesis through compromised stromal cell proliferation
PMID: 35169075
5
SEMA3E is significantly upregulated in epilepsy patients and correlates with seizure frequency; enriched in excitatory neurons with NRP1 and VEGFR2
PMID: 40579353
6
SEMA3E is a pro-inflammatory marker elevated in type 2 diabetes mellitus characterized by insulin resistance
PMID: 37175783
7
SEMA3E participates in endothelial cell-chondrocyte interactions during intervertebral disc degeneration
PMID: 39516278
Disease Associationsβ“˜20
CHARGE syndromeOpen Targets
0.55Moderate
open-angle glaucomaOpen Targets
0.42Moderate
hypogonadotropic hypogonadism 5 with or without anosmiaOpen Targets
0.41Moderate
CHD7-related CHARGE syndromeOpen Targets
0.37Weak
AnxietyOpen Targets
0.32Weak
Paralytic ileusOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.29Weak
oral mucosa leukoplakiaOpen Targets
0.28Weak
schizophreniaOpen Targets
0.27Weak
skin diseaseOpen Targets
0.27Weak
premature birthOpen Targets
0.26Weak
dilated cardiomyopathy 1AOpen Targets
0.26Weak
nephrotic syndromeOpen Targets
0.23Weak
central nervous system infectionOpen Targets
0.23Weak
muscular diseaseOpen Targets
0.23Weak
Myasthenia gravisOpen Targets
0.22Weak
lobe attachmentOpen Targets
0.22Weak
femur fractureOpen Targets
0.20Weak
hypogonadotropic hypogonadismOpen Targets
0.19Weak
inflammatory bowel diseaseOpen Targets
0.12Weak
Pathogenic Variants1
NM_012431.3(SEMA3E):c.621del (p.Arg208fs)Likely pathogenic
CHARGE syndrome|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 208
View on ClinVar β†—
Related Genes
PLXNA4Protein interaction100%PLXNA3Protein interaction100%PLXNA2Protein interaction100%PLXND1Protein interaction94%CHD7Protein interaction85%PLXNA1Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Lung
23%
Heart
13%
Liver
7%
Ovary
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SEMA3EPLXNA4PLXNA3PLXNA2PLXND1CHD7PLXNA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O15041
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.67LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.52 [0.41–0.67]
RankingsWhere SEMA3E stands among ~20K protein-coding genes
  • #8,729of 20,598
    Most Researched51
  • #5,093of 5,498
    Most Pathogenic Variants1
  • #4,913of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedSEMA3E
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Platelet-instructed SPP1
PMID: 36807143
Cell Rep Β· 2023
1.00
2
Deciphering the endometrial niche of human thin endometrium at single-cell resolution.
PMID: 35169075
Proc Natl Acad Sci U S A Β· 2022
0.90
3
Semaphorin 3E-Plexin D1 Axis Drives Lung Fibrosis through ErbB2-Mediated Fibroblast Activation.
PMID: 40112179
Adv Sci (Weinh) Β· 2025
0.80
4
Single-cell sequencing reveals cellular heterogeneity of nucleus pulposus in intervertebral disc degeneration.
PMID: 39516278
Sci Rep Β· 2024
0.70
5
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J Β· 2022
0.60