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NLGN3

Chr Xq13.1

neuroligin 3

Aliases:
HNL3, KIAA1480, ASPGX1, AUTSX1
MANE:
ENST00000358741.4
OMIM: 300336 ↗NCBI: 54413 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

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

  • Intellectual disability

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

  • Fetal anomalies

Disease associations (Open Targets)

  • autism spectrum disorder

    0.57

  • autism

    0.47

  • hereditary disease

    0.45

  • Intellectual disability

    0.43

  • neurodegenerative disease

    0.37

  • X-linked complex neurodevelopmental disorder

    0.36

  • hypogonadotropic hypogonadism

    0.34

  • Autistic behavior

    0.34

  • central nervous system cancer

    0.11

  • glioma

    0.11

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

Protein function (UniProt)

Neuroligin-3

Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity)

Diseases associated with NLGN3

Curated MONDO disease pages that list NLGN3 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.