| Entrez Gene ID | 2900 |
|---|---|
| Official Gene Symbol | GRIK4 (GeneCards) |
| Full name | glutamate ionotropic receptor kainate type subunit 4 |
| Location | 11q23.3 |
| Other ids | Vega : OTTHUMG00000048255 MIM : 600282 HGNC : HGNC:4582 Ensembl : ENSG00000149403 |
| Other names | KA1, EAA1, GRIK, GlK4 |
| Summary | This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 15044 | 2900 | GRIK4 | 11 | 120478772 | 120478772 | Asymptomatic | HiSeq X Ten |
| 15224 | 2900 | GRIK4 | 11 | 120848078 | 120848078 | Asymptomatic | HiSeq X Ten |
| 15375 | 2900 | GRIK4 | 11 | 120474392 | 120474392 | Asymptomatic | HiSeq X Ten |
| 15667 | 2900 | GRIK4 | 11 | 120605510 | 120605510 | Asymptomatic | HiSeq X Ten |
| 15861 | 2900 | GRIK4 | 11 | 120505088 | 120505088 | Cockayne syndrome | HiSeq X Ten |
| 15901 | 2900 | GRIK4 | 11 | 120557048 | 120557048 | Cockayne syndrome | HiSeq X Ten |
| 34498 | 2900 | GRIK4 | 11 | 120468798 | 120468798 | Asymptomatic | HiSeq X Ten Whole Genome Sequencing Ion Torrent PGM Sequencing |