Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2916
MIM: 604096
HGNC: 4598
Ensembl: ENSG00000113262
Variants:
dbSNP: 2916
ClinVar: 2916
TCGA: ENSG00000113262
COSMIC: GRM6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000113262 | ENST00000231188 | O15303 |
| ENSG00000113262 | ENST00000517717 | O15303 |
| ENSG00000113262 | ENST00000650031 | O15303 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31063016 | 2019 | Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness. | 1 |
| 31677249 | 2019 | Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing. | 6 |
| 31063016 | 2019 | Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness. | 1 |
| 31677249 | 2019 | Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing. | 6 |
| 27034204 | 2016 | Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study. | 14 |
| 27034204 | 2016 | Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study. | 14 |
| 26628857 | 2015 | Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. | 5 |
| 26628857 | 2015 | Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. | 5 |
| 23452348 | 2013 | Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes. | 19 |
| 23714322 | 2013 | Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. | 53 |
| 23452348 | 2013 | Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes. | 19 |
| 23714322 | 2013 | Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. | 53 |
| 22008250 | 2012 | A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. | 17 |
| 22735794 | 2012 | Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. | 5 |
| 22959359 | 2012 | Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. | 37 |
Citation
Dessen P
GRM6 (glutamate metabotropic receptor 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64052/grm6-(glutamate-metabotropic-receptor-6)
