PLXNA3 Chromosome X
Plexin A3
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What This Gene Does
This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system. This gene may be associated with tumor progression. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
"Plexins|IPT domain containing"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000130827
Associated Conditions (3)
PLXNA3-related disorder
Short stature
Hypogonadotropic hypogonadism
Key Variants
RS1209455991
Conflicting classifications of pathogenicity
Health Risk
RS147019078
Conflicting classifications of pathogenicity
PLXNA3-related disorder, PLXNA3-related disorder
Health Risk
RS200093414
Conflicting classifications of pathogenicity
PLXNA3-related disorder, PLXNA3-related disorder
Health Risk
RS202070666
Conflicting classifications of pathogenicity
Short stature, PLXNA3-related disorder, Short stature
Health Risk
RS5945430
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
RS781972092
Conflicting classifications of pathogenicity
Health Risk
RS782602470
Conflicting classifications of pathogenicity
PLXNA3-related disorder, PLXNA3-related disorder
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1209455991 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147019078 | Health Risk | Conflicting classifications of pathogenicity | PLXNA3-related disorder, PLXNA3-related disorder |
| RS200093414 | Health Risk | Conflicting classifications of pathogenicity | PLXNA3-related disorder, PLXNA3-related disorder |
| RS202070666 | Health Risk | Conflicting classifications of pathogenicity | Short stature, PLXNA3-related disorder, Short stature |
| RS5945430 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS781972092 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782602470 | Health Risk | Conflicting classifications of pathogenicity | PLXNA3-related disorder, PLXNA3-related disorder |