AlphaFold predicted structure
SHANK2 · Q9UPX8
Mean pLDDT
51.9/ 100
Low
1,849 residues
Confidence breakdown
- Very high(≥ 90)20%
- Confident(70–90)11%
- Low(50–70)2%
- Very low(< 50)66%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SHANK2
Chr 11q13.3-q13.4SH3 and multiple ankyrin repeat domains 2
- Aliases:
- CTTNBP1, ProSAP1, SHANK, SPANK-3
- MANE:
- ENST00000601538.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
complex neurodevelopmental disorder
0.59autism
0.48Rare disease with autism
0.43autism spectrum disorder
0.41Intellectual disability
0.37diabetic ketoacidosis
0.35alcohol drinking
0.35Hodgkins lymphoma
0.35neurodevelopmental disorder
0.35Global developmental delay
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 2
Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction
Diseases associated with SHANK2
Curated MONDO disease pages that list SHANK2 among their top associated genes.