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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SEMA6A
semaphorin 6A
Chromosome 5 · 5q23.1
NCBI Gene: 57556Ensembl: ENSG00000092421HGNC: HGNC:10738UniProt: A0A0A0MQU6
51PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of angiogenesiscellular response to vascular endothelial growth factor stimulusnegative regulation of ERK1 and ERK2 cascadeneurodegenerative diseasebipolar disorderabscesscellulitis
✦AI Summary

SEMA6A (semaphorin 6A) is a transmembrane guidance protein that plays crucial roles in vascular regulation, neural development, and cellular signaling. In vascular biology, SEMA6A functions as a negative regulator of angiogenesis through phase separation mechanisms, where its C-terminal intrinsically disordered region forms liquid-liquid condensates that recruit RHOA and P300, facilitating histone lactylation cycles that sustain pathological angiogenesis 1. The protein controls median eminence vascular permeability via its receptor Plexin-A2, which is essential for GnRH neuron innervation and puberty onset 2. SEMA6A mediates cytoskeletal organization through interaction with EVL (Ena/VASP-like protein) via a novel carboxyl-terminal zyxin-like domain, suggesting involvement in retrograde signaling pathways 3. In cancer biology, SEMA6A promotes tumor progression through multiple mechanisms: it stabilizes β-catenin via SEC62 interaction in clear cell renal cell carcinoma as a HIF-2α target gene 4, and controls cell survival and growth in BRAF-mutant melanoma through cytoskeletal remodeling 5. Genetic variants in SEMA6A are associated with delayed puberty in humans 2, vasculitis susceptibility 6, and exfoliation syndrome 7, highlighting its clinical significance in multiple pathological conditions.

Sources cited
1
SEMA6A forms phase separation condensates that facilitate histone lactylation in pathological angiogenesis
PMID: 40244673
2
SEMA6A controls median eminence vascular permeability and is required for puberty onset, with pathogenic variants causing delayed puberty
PMID: 38062045
3
SEMA6A binds to EVL protein via a carboxyl-terminal zyxin-like domain for retrograde signaling
PMID: 10993894
4
SEMA6A is a HIF-2α target gene that stabilizes β-catenin through SEC62 interaction in renal cell carcinoma
PMID: 36739418
5
SEMA6A controls cell survival and cytoskeletal organization in BRAF-mutant melanoma
PMID: 25576923
6
SEMA6A genetic variants are associated with vasculitis susceptibility
PMID: 25405820
7
SEMA6A is associated with increased risk of exfoliation syndrome
PMID: 29965897
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
bipolar disorderOpen Targets
0.32Weak
abscessOpen Targets
0.31Weak
cellulitisOpen Targets
0.31Weak
essential tremorOpen Targets
0.30Weak
Sjogren syndromeOpen Targets
0.28Weak
systemic lupus erythematosusOpen Targets
0.28Weak
stomach diseaseOpen Targets
0.28Weak
delayed puberty, self-limitedOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.26Weak
hair colorOpen Targets
0.26Weak
neuroendocrine neoplasmOpen Targets
0.26Weak
exostosisOpen Targets
0.19Weak
Genu valgumOpen Targets
0.19Weak
ovarian neoplasmOpen Targets
0.19Weak
prostate diseaseOpen Targets
0.17Weak
Genu varumOpen Targets
0.16Weak
sialolithiasisOpen Targets
0.16Weak
alopecia areataOpen Targets
0.16Weak
ovarian dysfunctionOpen Targets
0.15Weak
Pathogenic Variants1
NM_020796.5(SEMA6A):c.1268T>C (p.Ile423Thr)Likely pathogenic
Delayed puberty, self-limited
★☆☆☆2023→ Residue 423
View on ClinVar ↗
Related Genes
PLXNA4Protein interaction100%PLXNA2Protein interaction100%PLXNA3Protein interaction95%PLXNA1Protein interaction92%PLXND1Protein interaction82%PLXNC1Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Lung
44%
Ovary
39%
Heart
29%
Bone Marrow
23%
Liver
22%
Gene Interaction Network
Click a node to explore
SEMA6APLXNA4PLXNA2PLXNA3PLXNA1PLXND1PLXNC1
PROTEIN STRUCTURE
Preparing viewer…
PDB6WTS · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.16–0.34]
RankingsWhere SEMA6A stands among ~20K protein-coding genes
  • #8,730of 20,598
    Most Researched51
  • #5,094of 5,498
    Most Pathogenic Variants1
  • #1,437of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedSEMA6A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Semaphorin 6A phase separation sustains a histone lactylation-dependent lactate buildup in pathological angiogenesis.
PMID: 40244673
Proc Natl Acad Sci U S A · 2025
1.00
2
Genetics of vasculitis.
PMID: 25405820
Curr Opin Rheumatol · 2015
0.90
3
SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability.
PMID: 38062045
Nat Commun · 2023
0.80
4
Sema6A and Mical1 control cell growth and survival of BRAFV600E human melanoma cells.
PMID: 25576923
Oncotarget · 2015
0.70
5
The orthologous human and murine semaphorin 6A-1 proteins (SEMA6A-1/Sema6A-1) bind to the enabled/vasodilator-stimulated phosphoprotein-like protein (EVL) via a novel carboxyl-terminal zyxin-like domain.
PMID: 10993894
J Biol Chem · 2000
0.60