AlphaFold predicted structure
SHANK3 · Q9BYB0
Mean pLDDT
52.4/ 100
Low
1,806 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)13%
- Low(50–70)3%
- Very low(< 50)65%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SHANK3
Chr 22q13.33SH3 and multiple ankyrin repeat domains 3
- Aliases:
- SPANK-2, prosap2, KIAA1650, PSAP2
- MANE:
- ENST00000710353.1
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary lymphoedema
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedGastrointestinal epithelial barrier disorders
Disease associations (Open Targets)
Phelan-McDermid syndrome
0.81Monosomy 22q13
0.77schizophrenia 15
0.69hereditary disease
0.55Intellectual disability
0.55autism spectrum disorder
0.50Neurodevelopmental delay
0.43mathematical ability
0.35neurodevelopmental disorder
0.35schizophrenia
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
SH3 and multiple ankyrin repeat domains protein 3
Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation
Diseases associated with SHANK3
Curated MONDO disease pages that list SHANK3 among their top associated genes.