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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLXNA3
plexin A3
Chromosome X · Xq28
NCBI Gene: 55558Ensembl: ENSG00000130827.7HGNC: HGNC:9101UniProt: P51805
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinghippocampus developmentpyramidal neuron developmentneuron projection guidancehypogonadotropic hypogonadismShort statureautismNeurodevelopmental disorder
✦AI Summary

PLXNA3 is an X-linked transmembrane receptor that serves as a coreceptor for semaphorin-3A and -3F ligands in complex with neuropilins 1. Its primary function involves axon guidance and neurodevelopment through semaphorin-plexin signaling pathways. In the developing nervous system, PLXNA3 cooperates with PLXNA1 to pattern olfactory and vomeronasal axons that guide gonadotropin-releasing hormone (GnRH) neuron migration 2. The receptor's cytosolic juxtamembrane domain modulates oligomerization and signal transduction, with a heptad repeat interface controlling homomeric interactions necessary for proper signaling 3. Patogenic variants in PLXNA3 cause X-linked intellectual disability syndrome characterized by autism, developmental delays, fine motor dyspraxia, and seizures, with more severe phenotypes associated with cytoplasmic domain mutations 1. Loss-of-function variants cause idiopathic hypogonadotropic hypogonadism through impaired GnRH and olfactory neuron development 4. In cancer contexts, elevated PLXNA3 expression correlates with poor prognosis in breast and colorectal cancers 5 6. PLXNA3 overexpression promotes cancer cell proliferation, invasion, and migration while suppressing immune activation and reducing CD8+ T cell infiltration, conferring resistance to anti-PD1 immunotherapy 5 6. In ovarian cancer, PLXNA3 shows discordant estrogen regulation compared to normal epithelium and inhibits cell invasiveness 7.

Sources cited
1
PLXNA3 mutations cause X-linked intellectual disability with autism, fine motor dyspraxia, and seizures; cytoplasmic domain variants correlate with severity
PMID: 34740135
2
PLXNA1 and PLXNA3 cooperate to pattern nasal axons guiding GnRH neuron migration through semaphorin signaling
PMID: 31690636
3
Loss-of-function PLXNA3 variants cause idiopathic hypogonadotropic hypogonadism through defective GnRH neuron and olfactory system development
PMID: 33495532
4
PLXNA3 juxtamembrane heptad repeat interface regulates homomeric interactions and semaphorin-mediated signal transduction
PMID: 25565389
5
High PLXNA3 expression in breast cancer promotes proliferation, invasion, and migration while suppressing immune activation and predicting poor anti-PD1 response
PMID: 40760011
6
PLXNA3 is a top prognostic risk gene in colorectal cancer, enriched in malignant epithelium and negatively associated with CD8+ T cells and immune infiltration
PMID: 40963600
7
PLXNA3 shows opposite estrogen regulation between normal ovarian epithelium and cancer cells; inhibits cancer cell invasiveness
PMID: 16116479
Disease Associationsⓘ20
hypogonadotropic hypogonadismOpen Targets
0.41Moderate
Short statureOpen Targets
0.32Weak
autismOpen Targets
0.15Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
autism spectrum disorderOpen Targets
0.11Weak
disorder of sexual differentiationOpen Targets
0.11Weak
Genetic 46,XY disorder of sex developmentOpen Targets
0.11Weak
microtiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
benign prostatic hyperplasiaOpen Targets
0.03Suggestive
metabolic syndromeOpen Targets
0.02Suggestive
cryopyrin-associated periodic syndromeOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
polycystic ovary syndromeOpen Targets
0.02Suggestive
myeloid sarcomaOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DPYSL2Protein interaction100%SEMA3BProtein interaction100%SEMA3EProtein interaction100%SEMA3DProtein interaction100%FYNProtein interaction96%SEMA6AProtein interaction95%
Tissue Expression6 tissues
Ovary
100%
Brain
41%
Lung
40%
Heart
23%
Bone Marrow
17%
Liver
14%
Gene Interaction Network
Click a node to explore
PLXNA3DPYSL2SEMA3BSEMA3ESEMA3DFYNSEMA6A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P51805
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.44 [0.35–0.55]
RankingsWhere PLXNA3 stands among ~20K protein-coding genes
  • #11,037of 20,598
    Most Researched35
  • #3,543of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedPLXNA3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comprehensive analysis of the PLXNA3 gene on prognosis and immune characteristics in breast cancer.
PMID: 40760011
Sci Rep · 2025
1.00
2
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
PMID: 34740135
Pediatr Neurol · 2022
0.90
3
A machine learning-derived immune-related prognostic model identifies
PMID: 40963600
Front Immunol · 2025
0.80
4
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism.
PMID: 33495532
Genet Med · 2021
0.70
5
PLXNA1 and PLXNA3 cooperate to pattern the nasal axons that guide gonadotropin-releasing hormone neurons.
PMID: 31690636
Development · 2019
0.60