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SHANK3

Gene

SH3 and multiple ankyrin repeat domains 3

HGNCHGNC:14294EnsemblENSG00000251322NCBI Gene85358
Locus: gene with protein productLocation: 22q13.33

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asPSAP2 · SPANK-2 · prosap2 · KIAA1650
View full nomenclature history (6)
Alias symbolsPSAP2, SPANK-2, prosap2, KIAA1650
Alias namesproline rich synapse associated protein 2, shank3 postsynaptic density protein

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn
Autism Spectrum Disorder
Neurodevelopmental Disorders
Schizophrenia

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Ankyrin repeat domain containingSterile alpha motif domain containingPDZ domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.
Open TargetsGene–disease associations from the Open Targets Platform.