Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
AUTS2 syndrome
KIAA0442 |
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
epilepsy intellectual disability developmental delay |
| gptkbp:discoveredBy |
Sultana et al.
|
| gptkbp:discoveredIn |
2002
|
| gptkbp:Entrez_Gene_ID |
26053
ENSG00000158321 |
| gptkbp:expressedIn |
gptkb:cerebral_cortex
brain hippocampus |
| gptkbp:fullName |
Activator of transcription and developmental regulator AUTS2
|
| gptkbp:function |
neuronal development
regulation of neuronal migration |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:14262
|
| https://www.w3.org/2000/01/rdf-schema#label |
AUTS2
|
| gptkbp:length |
19 exons
|
| gptkbp:locatedOnChromosome |
7
7q11.22 |
| gptkbp:mutationAssociatedWith |
neurodevelopmental disorders
|
| gptkbp:OMIM |
615834
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Auts2
|
| gptkbp:pathway |
neuronal differentiation
transcriptional regulation |
| gptkbp:product |
AUTS2 protein
|
| gptkbp:bfsParent |
gptkb:chromosome_7
|
| gptkbp:bfsLayer |
6
|