Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
PSPN
KIAA1022 ProSAP1 |
| gptkbp:alternativeSplicing |
multiple transcript variants
|
| gptkbp:associatedWith |
gptkb:SHANK3_gene
gptkb:autism_spectrum_disorder schizophrenia intellectual disability SHANK1 gene |
| gptkbp:discoveredIn |
2001
|
| gptkbp:encodes |
SHANK2 protein
|
| gptkbp:Entrez_Gene_ID |
22941
|
| gptkbp:expressedIn |
gptkb:spinal_cord
brain |
| gptkbp:fullName |
SH3 and multiple ankyrin repeat domains protein 2
|
| gptkbp:function |
scaffolding protein in postsynaptic density
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:GO_term |
gptkb:cell_junction
synaptic organization protein binding postsynaptic density |
| gptkbp:HGNC_ID |
HGNC:16468
|
| https://www.w3.org/2000/01/rdf-schema#label |
SHANK2 gene
|
| gptkbp:interactsWith |
gptkb:PSD-95
Homer proteins NMDA receptor complex SAPAP proteins |
| gptkbp:length |
1616 amino acids (canonical isoform)
~1.6 Mb (genomic region) |
| gptkbp:locatedOnChromosome |
gptkb:11q13.3
chromosome 11 |
| gptkbp:mutationAssociatedWith |
neurodevelopmental disorders
frameshift mutations deletions synaptic dysfunction missense mutations nonsense mutations |
| gptkbp:OMIM |
603290
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Shank2
|
| gptkbp:proteinFamily |
SH3 domain
PDZ domain proline-rich region ankyrin repeats SAM domain |
| gptkbp:relatedTo |
SHANK family
|
| gptkbp:significance |
variants of uncertain significance
pathogenic variants linked to autism |
| gptkbp:UniProtID |
Q9Y566
|
| gptkbp:bfsParent |
gptkb:11q13
|
| gptkbp:bfsLayer |
8
|