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SEMA3A

Chr 7q21.11

semaphorin 3A

Aliases:
SEMA1, SemD, coll-1, Hsema-I
MANE:
ENST00000265362.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Familial Hirschsprung Disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hypogonadotropic hypogonadism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Kallmann syndrome

    0.53
  • Abnormality of the skeletal system

    0.47
  • primary angle-closure glaucoma

    0.42
  • alcohol drinking

    0.42
  • open-angle glaucoma

    0.40
  • Brugada syndrome

    0.38
  • congenital heart disease

    0.37
  • skeletal dysplasia

    0.37
  • glaucoma

    0.34
  • urethral syndrome

    0.33

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

Protein function (UniProt)

Semaphorin-3A

Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1

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.