PLXNA2 Chromosome 1
Plexin A2
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What This Gene Does
This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Plexins|IPT domain containing"
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000076356
Associated Conditions (2)
PLXNA2-related disorder
atypical cerebral palsy
Key Variants
RS138766213
Conflicting classifications of pathogenicity
PLXNA2-related disorder, PLXNA2-related disorder
Health Risk
RS141605287
Conflicting classifications of pathogenicity
PLXNA2-related disorder, PLXNA2-related disorder
Health Risk
RS143885355
Conflicting classifications of pathogenicity
PLXNA2-related disorder, PLXNA2-related disorder
Health Risk
RS149664316
Conflicting classifications of pathogenicity
PLXNA2-related disorder, PLXNA2-related disorder
Health Risk
RS558770025
Conflicting classifications of pathogenicity
PLXNA2-related disorder, PLXNA2-related disorder
Health Risk
RS577372550
Conflicting classifications of pathogenicity
PLXNA2-related disorder, PLXNA2-related disorder
Health Risk
RS777356335
Conflicting classifications of pathogenicity
PLXNA2-related disorder, PLXNA2-related disorder
Health Risk
RS1553277591
Likely pathogenic
atypical cerebral palsy, atypical cerebral palsy
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138766213 | Health Risk | Conflicting classifications of pathogenicity | PLXNA2-related disorder, PLXNA2-related disorder |
| RS141605287 | Health Risk | Conflicting classifications of pathogenicity | PLXNA2-related disorder, PLXNA2-related disorder |
| RS143885355 | Health Risk | Conflicting classifications of pathogenicity | PLXNA2-related disorder, PLXNA2-related disorder |
| RS149664316 | Health Risk | Conflicting classifications of pathogenicity | PLXNA2-related disorder, PLXNA2-related disorder |
| RS558770025 | Health Risk | Conflicting classifications of pathogenicity | PLXNA2-related disorder, PLXNA2-related disorder |
| RS577372550 | Health Risk | Conflicting classifications of pathogenicity | PLXNA2-related disorder, PLXNA2-related disorder |
| RS777356335 | Health Risk | Conflicting classifications of pathogenicity | PLXNA2-related disorder, PLXNA2-related disorder |
| RS1553277591 | Health Risk | Likely pathogenic | atypical cerebral palsy, atypical cerebral palsy |