HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SEMA5B
semaphorin 5B
Chromosome 3 · 3q21.1
NCBI Gene: 54437Ensembl: ENSG00000082684.16HGNC: HGNC:10737UniProt: A0A3B3IRP9
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolchemorepellent activityneural crest cell migrationaxon guidancecancercoronary artery diseaseheart failurestroke
✦AI Summary

SEMA5B (Semaphorin 5B) is a transmembrane protein with dual roles in neural development and cancer progression. In the nervous system, SEMA5B functions as a guidance cue that regulates synapse elimination and formation in hippocampal neurons through proteolytic processing of its semaphorin domain 1. The protein is cleaved by ADAM-17 and potentially other proteases to release soluble ectodomain fragments that act as repulsive growth cone guidance signals 2. SEMA5B is also essential for proper sensory neuron development, with its expression regulated by MECP2 in trigeminal ganglia 3. In cancer contexts, SEMA5B functions as an oncogene across multiple tumor types. In esophageal squamous cell carcinoma, SEMA5B promotes glycolysis by stabilizing VDAC2 protein and suppressing NEDD4-mediated degradation, enhancing cell proliferation and migration 4. In clear cell renal carcinoma, SEMA5B is a HIF-2α target gene that is suppressed by PRDM16-mediated epigenetic silencing, with restoration of PRDM16 blocking tumor growth 5. SEMA5B expression is significantly elevated in gastric adenocarcinoma and correlates with poor prognosis through activation of malignant tumor, MAPK, and Notch signaling pathways 6. SEMA5B also serves as a prognostic biomarker in Burkitt lymphoma 7.

Sources cited
1
SEMA5B regulates synapse elimination and formation in hippocampal neurons through secreted semaphorin domain fragments
PMID: 19463192
2
SEMA5B is proteolytically processed by ADAM-17 to release soluble ectodomain functioning as repulsive growth cone guidance cue
PMID: 22817385
3
SEMA5B expression is regulated by MECP2 and essential for sensory neuron development in trigeminal ganglia
PMID: 26733807
4
SEMA5B promotes glycolysis in esophageal squamous cell carcinoma by stabilizing VDAC2 protein
PMID: 41407227
5
SEMA5B is a HIF target gene in renal cell carcinoma that promotes tumor growth and is suppressed by PRDM16
PMID: 32251515
6
SEMA5B expression correlates with poor prognosis in gastric adenocarcinoma through MAPK and Notch pathway activation
PMID: 34407591
7
SEMA5B serves as a prognostic biomarker in Burkitt lymphoma
PMID: 36354023
8
SEMA5B enhancer is identified as oncogenic in clear cell renal carcinoma through variant enhancer loci analysis
PMID: 40391655
Disease Associationsⓘ20
cancerOpen Targets
0.41Moderate
coronary artery diseaseOpen Targets
0.41Moderate
heart failureOpen Targets
0.41Moderate
strokeOpen Targets
0.41Moderate
atrial fibrillationOpen Targets
0.41Moderate
diabetes mellitusOpen Targets
0.41Moderate
celiac diseaseOpen Targets
0.28Weak
inborn disorder of amino acid metabolismOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.24Weak
PainOpen Targets
0.21Weak
neoplasmOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
blood coagulation diseaseOpen Targets
0.04Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.04Suggestive
temporomandibular joint disorderOpen Targets
0.04Suggestive
X-linked sideroblastic anemia 1Open Targets
0.04Suggestive
erythrocytosis, familial, 3Open Targets
0.04Suggestive
erythrocytosis, familial, 6Open Targets
0.04Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLXNB3Protein interaction93%SEMA4FShared pathway75%PLXNA1Protein interaction74%PLXNA3Protein interaction74%SEMA6CShared pathway71%SEMA4BShared pathway71%
Tissue Expression6 tissues
Heart
100%
Brain
14%
Ovary
11%
Liver
8%
Lung
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
SEMA5BPLXNB3SEMA4FPLXNA1PLXNA3SEMA6CSEMA4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P283
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.42–0.65]
RankingsWhere SEMA5B stands among ~20K protein-coding genes
  • #15,109of 20,598
    Most Researched17
  • #4,645of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedSEMA5B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Feedback Loop Between Fatty Acid Metabolism and Epigenetics in Clear Cell Renal Carcinoma.
PMID: 40391655
Adv Sci (Weinh) · 2025
1.00
2
SEMA5B depletion suppresses cell proliferation and glycolysis by downregulating VDAC2 expression in esophageal squamous cell carcinoma.
PMID: 41407227
Int J Biol Macromol · 2026
0.90
3
Semaphorin 5B mediates synapse elimination in hippocampal neurons.
PMID: 19463192
Neural Dev · 2009
0.80
4
PRDM16 suppresses HIF-targeted gene expression in kidney cancer.
PMID: 32251515
J Exp Med · 2020
0.70
5
Genes associated with diagnosis and prognosis of Burkitt lymphoma.
PMID: 36354023
IET Syst Biol · 2022
0.60