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GenoLensGenoLens

PLXNA2

Chr 1q32.2

plexin A2

Aliases:
OCT, FLJ11751, FLJ30634, KIAA0463
MANE:
ENST00000367033.4
OMIM: 601054 ↗NCBI: 5362 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.55

  • vertebral column disorder

    0.40

  • placental abruption

    0.34

  • Abnormality of the skeletal system

    0.34

  • restless legs syndrome

    0.34

  • infectious meningitis

    0.32

  • health study participation

    0.31

  • systemic lupus erythematosus

    0.30

  • obesity disorder

    0.29

  • risk-taking behaviour

    0.27

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

Protein function (UniProt)

Plexin-A2

Coreceptor for SEMA3A and SEMA6A. Necessary for signaling by SEMA6A and class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. 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 (By similarity)

Diseases associated with PLXNA2

Curated MONDO disease pages that list PLXNA2 among their top associated genes.

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.