Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
IQSEC2
|
| gptkbp:associatedWith |
epilepsy
intellectual disability |
| gptkbp:encodes |
BRAG1 protein
|
| gptkbp:Entrez_Gene_ID |
9657
ENSG00000147862 |
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
guanine nucleotide exchange factor
|
| https://www.w3.org/2000/01/rdf-schema#label |
BRAG1
|
| gptkbp:involvedIn |
synaptic function
|
| gptkbp:locatedOnChromosome |
Xq26.1
|
| gptkbp:mutationAssociatedWith |
neurodevelopmental disorders
|
| gptkbp:OMIM |
300522
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Iqsec2
|
| gptkbp:proteinFamily |
gptkb:PH_domain
gptkb:Sec7_domain IQ domain |
| gptkbp:UniProtID |
Q5JRA6
|
| gptkbp:bfsParent |
gptkb:GEFs
|
| gptkbp:bfsLayer |
7
|