Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
22q13 deletion syndrome gene
PROSAP2 PSAP2 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Phelan-McDermid_syndrome
gptkb:autism_spectrum_disorder intellectual disability |
| gptkbp:biologicalProcess |
scaffold protein at excitatory synapses
|
| gptkbp:clinicalTrialPhase |
genetic sequencing
|
| gptkbp:discoveredBy |
Boëckers et al.
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
SH3 and multiple ankyrin repeat domains protein 3
|
| gptkbp:Entrez_Gene_ID |
85358
ENSG00000147274 |
| gptkbp:expressedIn |
brain
neurodevelopment |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
postsynaptic density organization
synaptic scaffolding |
| gptkbp:HGNC_ID |
HGNC:16499
|
| https://www.w3.org/2000/01/rdf-schema#label |
SHANK3 gene
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:interactsWith |
gptkb:PSD-95
Homer proteins NMDA receptor complex GKAP Cortactin |
| gptkbp:length |
1730 amino acids (canonical isoform)
|
| gptkbp:locatedOnChromosome |
chromosome 22q13.3
|
| gptkbp:mouseModelPhenotype |
repetitive behaviors
impaired synaptic transmission social deficits |
| gptkbp:mutationAssociatedWith |
nonsense
deletion missense neurodevelopmental disorders frameshift |
| gptkbp:OMIM |
606230
|
| gptkbp:orthologInMouse |
Shank3
|
| gptkbp:pathway |
synaptic signaling
glutamatergic synapse |
| gptkbp:proteinFamily |
SH3 domain
PDZ domain proline-rich region ankyrin repeats SAM domain |
| gptkbp:UniProtID |
Q9BYB0
|
| gptkbp:bfsParent |
gptkb:22q13.2
|
| gptkbp:bfsLayer |
6
|