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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SEMA6D
semaphorin 6D
Chromosome 15 · 15q21.1
NCBI Gene: 80031Ensembl: ENSG00000137872.18HGNC: HGNC:16770UniProt: Q8NFY4
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
semaphorin receptor bindingchemorepellent activityreceptor ligand activityneural crest cell migrationneurodegenerative diseaseattention deficit hyperactivity disorderrestless legs syndromesubstance-related disorder
✦AI Summary

SEMA6D (semaphorin 6D) is a transmembrane guidance molecule with pleiotropic functions spanning neurodevelopment, immunity, and tissue homeostasis. Primarily, SEMA6D exhibits growth cone collapsing activity on dorsal root ganglion neurons and functions as a chemorepellent in axon guidance 1. Beyond neuronal development, SEMA6D serves as a ligand for TREM2 on dendritic cells and microglia, regulating immune responses and synaptic homeostasis 2. In the tumor microenvironment, SEMA6D forward signaling impairs CD8+ T cell infiltration and activation through plexin-A4, reducing immunotherapy efficacy; blocking SEMA6D restores PD-1 checkpoint inhibitor responsiveness in head and neck cancers 3. SEMA6D in amygdalar interneurons maintains synaptic maturation and γ-aminobutyric acid transmission, coordinating anxiety, metabolic, and inflammatory outputs 4. In osteoarthritis, SEMA6D overexpression protects cartilage by inhibiting the angiotensin II/IL-1β axis, enhancing extracellular matrix homeostasis 5. Clinically, SEMA6D variants associate with cognitive decline in APOE-ε4 carriers 6, Behçet's disease susceptibility 7, and brain structure in reading disability 1. Urinary SEMA6D shows promise as a non-invasive bladder cancer biomarker 8. These findings establish SEMA6D as a pleiotropic neuroimmune regulator with therapeutic potential across neurodegeneration, cancer immunotherapy, and inflammatory diseases.

Sources cited
1
SEMA6D forward signaling impairs CD8+ T cell infiltration and activation; blocking SEMA6D restores PD-1 checkpoint inhibitor efficacy in head and neck cancer
PMID: 38329122
2
SEMA6D in amygdalar interneurons maintains synaptic homeostasis and coordinates anxiety, metabolic, and inflammatory responses; required for GABA transmission
PMID: 39002542
3
SEMA6D variants associate with cognitive decline in APOE-ε4 carriers, identified through GWAS of late-life cognition
PMID: 41720779
4
SEMA6D overexpression protects cartilage in osteoarthritis by inhibiting AGT/AGTR1a/IL-1β axis and enhancing extracellular matrix homeostasis
PMID: 40184436
5
Urinary SEMA6D concentration is elevated in non-muscle-invasive bladder cancer patients and may serve as a diagnostic biomarker
PMID: 39061999
6
SEMA6D-TREM2 neuron-microglia cross-talk is activated near amyloid plaques and impaired in late Alzheimer's disease; SEMA6D induces TREM2-dependent microglial activation and amyloid clearance
PMID: 40737431
7
SEMA6D variants on reading disability risk locus DYX1 associate with brain structure in reading-related regions and white matter volume in auditory processing areas
PMID: 33960276
8
SEMA6D is a genome-wide significant susceptibility locus for overall Behçet's disease across East Asian and Mediterranean populations
PMID: 37977914
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
attention deficit hyperactivity disorderOpen Targets
0.48Moderate
restless legs syndromeOpen Targets
0.45Moderate
substance-related disorderOpen Targets
0.40Weak
smoking cessationOpen Targets
0.38Weak
smoking initiationOpen Targets
0.38Weak
Cannabis useOpen Targets
0.37Weak
intelligenceOpen Targets
0.36Weak
insomniaOpen Targets
0.35Weak
nicotine dependenceOpen Targets
0.35Weak
cannabis dependenceOpen Targets
0.34Weak
ulcerative colitisOpen Targets
0.34Weak
inflammatory bowel diseaseOpen Targets
0.34Weak
risk-taking behaviourOpen Targets
0.33Weak
schizophreniaOpen Targets
0.33Weak
adolescent idiopathic scoliosisOpen Targets
0.32Weak
major depressive disorderOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
autism spectrum disorderOpen Targets
0.30Weak
TinnitusOpen Targets
0.30Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPG11Protein interaction95%PLXNA4Protein interaction94%PLXNA2Protein interaction86%NRCAMProtein interaction86%TYROBPProtein interaction86%TREM2Protein interaction86%
Tissue Expression6 tissues
Ovary
100%
Heart
94%
Brain
87%
Liver
22%
Lung
18%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
SEMA6DSPG11PLXNA4PLXNA2NRCAMTYROBPTREM2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NFY4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.29 [0.21–0.40]
RankingsWhere SEMA6D stands among ~20K protein-coding genes
  • #11,232of 20,598
    Most Researched34
  • #1,975of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedSEMA6D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sema6D forward signaling impairs T cell activation and proliferation in head and neck cancer.
PMID: 38329122
JCI Insight · 2024
1.00
2
Semaphorin 6D tunes amygdalar circuits for emotional, metabolic, and inflammatory outputs.
PMID: 39002542
Neuron · 2024
0.90
3
Genetic modifiers of APOE-ε4-associated cognitive decline.
PMID: 41720779
Nat Commun · 2026
0.80
4
SEMA6D modulates extracellular matrix metabolism in osteoarthritis by inhibiting the AGT/AGTR1a/IL-1β axis.
PMID: 40184436
FASEB J · 2025
0.70
5
The Role of Semaphorin 6D (Sema6D) in Non-Muscle-Invasive Bladder Cancer-A Preliminary Study on Human Plasma and Urine.
PMID: 39061999
Biomedicines · 2024
0.60