Statements (87)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
GLUR6
glutamate receptor, ionotropic, kainate 2 |
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
epilepsy intellectual disability |
| gptkbp:biologicalProcess |
synaptic transmission
nervous system development ion channel activity glutamate receptor activity |
| gptkbp:encodes |
Glutamate receptor ionotropic, kainate 2
|
| gptkbp:Entrez_Gene_ID |
2898
ENSG00000171189 |
| gptkbp:expressedIn |
gptkb:cerebellum
brain hippocampus |
| gptkbp:function |
mediates excitatory neurotransmission
forms kainate-gated ion channels |
| gptkbp:hasTranscriptVariant |
GRIK2-201
GRIK2-202 GRIK2-203 |
| gptkbp:HGNC_ID |
HGNC:4582
|
| https://www.w3.org/2000/01/rdf-schema#label |
GRIK2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
6q16.3 |
| gptkbp:mutationAssociatedWith |
can cause autosomal recessive intellectual disability
|
| gptkbp:OMIM |
138244
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Grik2
|
| gptkbp:PDB |
5KUF
5KUG 5KUI 5KUK 5KUL 5KUM 5KUN 5KUP 5KUR 5KUS 5KUT 5KUU 5KUV 5KUW 5KUX 5KUY 5KUZ 5KV0 5KV1 5KV2 5KV3 5KV4 5KV5 5KV6 5KV7 5KV8 5KV9 5KVA 5KVB 5KVC 5KVD 5KVE 5KVF 5KVG 5KVH 5KVI 5KVJ 5KVK 5KVL 5KVM 5KVN 5KVO 5KVP 5KVQ 5KVR 5KVS 5KVT 5KVU 5KVV 5KVW 5KVX 5KVY 5KVZ |
| gptkbp:proteinFamily |
ionotropic glutamate receptor
|
| gptkbp:UniProtID |
Q13002
|
| gptkbp:bfsParent |
gptkb:kainate_receptor
gptkb:Kainate_receptor |
| gptkbp:bfsLayer |
7
|