Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
epilepsy
neurodevelopmental disorders |
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
GluA4 protein
|
| gptkbp:Entrez_Gene_ID |
2893
ENSG00000100346 |
| gptkbp:expressedIn |
brain
|
| gptkbp:fullName |
glutamate ionotropic receptor AMPA type subunit 4
|
| gptkbp:function |
encodes a subunit of the AMPA-sensitive glutamate receptor
involved in fast excitatory synaptic transmission in the CNS |
| gptkbp:HGNC_ID |
HGNC:4586
|
| https://www.w3.org/2000/01/rdf-schema#label |
GRIA4
|
| gptkbp:locatedOnChromosome |
gptkb:11q22.3
chromosome 11 |
| gptkbp:mutationAssociatedWith |
can cause intellectual disability
can cause seizures |
| gptkbp:OMIM |
605899
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Gria4
|
| gptkbp:product |
gptkb:voltage-gated_potassium_channel
|
| gptkbp:proteinFamily |
glutamate receptor family
|
| gptkbp:UniProtID |
P48058
|
| gptkbp:bfsParent |
gptkb:AMPA_receptor
|
| gptkbp:bfsLayer |
7
|