SEMA6A Chromosome 5
Semaphorin 6A
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What This Gene Does
Predicted to enable identical protein binding activity; signaling receptor binding activity; and transmembrane signaling receptor activity. Involved in cellular response to vascular endothelial growth factor stimulus; negative regulation of cell adhesion involved in sprouting angiogenesis; and negative regulation of signal transduction. Predicted to be located in axon and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Semaphorins
Locus Type
gene with protein product
Location
5q23.1
Ensembl
ENSG00000092421
Associated Conditions (2)
Delayed puberty
self-limited
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS56912727 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2532375845 | Health Risk | Likely pathogenic | Delayed puberty, self-limited, Delayed puberty |