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.
SEMA4A
semaphorin 4A
Chromosome 1 Β· 1q22
NCBI Gene: 64218Ensembl: ENSG00000196189.15HGNC: HGNC:10729UniProt: B4DKS5
54PubMed Papers
22Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnegative chemotaxissemaphorin-plexin signaling pathwaypositive regulation of excitatory synapse assemblyretinitis pigmentosaCone rod dystrophycone-rod dystrophyRod-cone dystrophy
✦AI Summary

SEMA4A is a cell surface semaphorin that functions as a ligand for plexin receptors (PLXNB1, PLXNB2, PLXNB3, PLXND1) and neuropilin-1, mediating diverse physiological processes 1. In the nervous system, SEMA4A regulates synapse development by promoting inhibitory synapse formation via PLXNB1 and excitatory synapse formation via PLXNB2, while also providing axon guidance signals 1. In immune responses, SEMA4A enhances germinal center B cell differentiation and is upregulated during T cell activation, contributing to adaptive immunity 2. SEMA4A exerts niche-derived protection of myeloid-biased hematopoietic stem cells against inflammatory stress through plexin D1 signaling, preserving stem cell functional diversity 3. Additionally, SEMA4A inhibits angiogenesis 1. Pathologically, SEMA4A mutations cause cone-rod dystrophy and retinitis pigmentosa 4. In cancer, SEMA4A is essential for myeloma cell survival and represents a viable immunotherapy target; SEMA4A-directed CAR T cells show superior efficacy against BCMA-low tumors 56. Recent evidence links SEMA4A upregulation to depression-like behaviors and mood dysfunction through impaired myelination pathways 7.

Sources cited
1
SEMA4A is a semaphorin with multiple receptors and roles in axon guidance, synapse development, angiogenesis, and immune responses
PMID: 27736304
2
SEMA4A mutations are associated with cone-rod dystrophy and retinitis pigmentosa in genetic screening studies
PMID: 29555955
3
SEMA4A expression is enhanced on germinal center B cells in tertiary lymphoid structures of HPV+ head and neck cancer
PMID: 34099645
4
Niche-derived SEMA4A from neutrophils safeguards myeloid-biased HSC identity via plexin D1 signaling
PMID: 39881190
5
SEMA4A is essential for myeloma cell growth and represents an effective immunotherapy target
PMID: 35134130
6
SEMA4A-directed CAR T cells show superior efficacy against BCMA-low multiple myeloma tumors
PMID: 41072416
7
SEMA4A upregulation is necessary for depression-like behaviors and mood dysfunction in mice and humans
PMID: 37069164
Disease Associationsβ“˜22
retinitis pigmentosaOpen Targets
0.68Moderate
Cone rod dystrophyOpen Targets
0.65Moderate
cone-rod dystrophyOpen Targets
0.38Weak
Rod-cone dystrophyOpen Targets
0.38Weak
Retinal dystrophyOpen Targets
0.38Weak
familial colorectal cancer type XOpen Targets
0.37Weak
helicoid peripapillary chorioretinal degenerationOpen Targets
0.34Weak
Posterior column ataxia - retinitis pigmentosaOpen Targets
0.24Weak
eye diseaseOpen Targets
0.19Weak
optic atrophyOpen Targets
0.16Weak
autosomal recessive cone rod dystrophyOpen Targets
0.15Weak
colorectal cancerOpen Targets
0.15Weak
polyp of colonOpen Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
rheumatoid arthritisOpen Targets
0.08Suggestive
Stargardt diseaseOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.08Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.08Suggestive
systemic sclerodermaOpen Targets
0.08Suggestive
Cone-rod dystrophy 10UniProt
Retinitis pigmentosa 35UniProt
Pathogenic Variants4
NM_022367.4(SEMA4A):c.1377G>C (p.Glu459Asp)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 459
NM_022367.4(SEMA4A):c.745dup (p.Glu249fs)Pathogenic
Retinitis pigmentosa
β˜…β˜†β˜†β˜†2020β†’ Residue 249
NM_022367.4(SEMA4A):c.985C>T (p.Gln329Ter)Pathogenic
Helicoid peripapillary chorioretinal degeneration
β˜…β˜†β˜†β˜†2020β†’ Residue 329
NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys)Pathogenic
Cone-rod dystrophy 10|Retinitis pigmentosa 35
β˜†β˜†β˜†β˜†2013β†’ Residue 350
View on ClinVar β†—
Related Genes
PLXNB3Protein interaction100%PLXNB1Protein interaction94%NRP1Protein interaction94%PLXND1Protein interaction94%PLXNB2Protein interaction94%PITPNM3Protein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
37%
Ovary
11%
Brain
11%
Liver
4%
Heart
3%
Gene Interaction Network
Click a node to explore
SEMA4APLXNB3PLXNB1NRP1PLXND1PLXNB2PITPNM3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H3S1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.55–0.86]
RankingsWhere SEMA4A stands among ~20K protein-coding genes
  • #8,369of 20,598
    Most Researched54
  • #3,788of 5,498
    Most Pathogenic Variants4
  • #7,503of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedSEMA4A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301590
1.00
2
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
PMID: 29555955
Sci Rep Β· 2018
0.90
3
Comprehensive analyses of brain cell communications based on multiple scRNA-seq and snRNA-seq datasets for revealing novel mechanism in neurodegenerative diseases.
PMID: 37269061
CNS Neurosci Ther Β· 2023
0.80
4
The basolateral amygdala-anterior cingulate pathway contributes to depression-like behaviors and comorbidity with chronic pain behaviors in male mice.
PMID: 37069164
Nat Commun Β· 2023
0.70
5
B cell signatures and tertiary lymphoid structures contribute to outcome in head and neck squamous cell carcinoma.
PMID: 34099645
Nat Commun Β· 2021
0.60