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GenoLensGenoLens

PLXNA3

Chr Xq28

plexin A3

Aliases:
SEX, XAP-6, 6.3, Plxn3
MANE:
ENST00000369682.4

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hypogonadotropic hypogonadism (GMS)

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • hypogonadotropic hypogonadism

    0.41
  • Short stature

    0.32
  • neurodevelopmental disorder

    0.15
  • autism

    0.15
  • disorder of sexual differentiation

    0.11
  • autism spectrum disorder

    0.11
  • microtia

    0.11
  • Genetic 46,XY disorder of sex development

    0.11
  • neoplasm

    0.08
  • breast cancer

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Plexin-A3

Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but not of neural crest precursors. Required for normal dendrite spine morphology in pyramidal neurons. May play a role in regulating semaphorin-mediated programmed cell death in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.