GRM6 Chromosome 5
Glutamate metabotropic receptor 6
Upload your DNA to see your personal genotypes for variants in GRM6.
What This Gene Does
L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018]
Gene Info
Gene Group
Glutamate metabotropic receptors
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000113262
Associated Conditions (8)
Inborn genetic diseases
Congenital stationary night blindness 1B
Ovarian serous cystadenocarcinoma
Retinal dystrophy
Congenital stationary night blindness
GRM6-related disorder
Hepatocellular carcinoma
Leber congenital amaurosis
Key Variants
RS1034464770
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1189206125
Conflicting classifications of pathogenicity
Health Risk
RS121434304
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
Health Risk
RS138551288
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
Health Risk
RS138887489
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143491269
Conflicting classifications of pathogenicity
Health Risk
RS148524969
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149519053
Conflicting classifications of pathogenicity
Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
Health Risk
RS150290493
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150968591
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200210006
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS201396068
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1B, Retinal dystrophy, Congenital stationary night blindness 1B
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1034464770 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1189206125 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121434304 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1B, Congenital stationary night blindness 1B |
| RS138551288 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1B, Congenital stationary night blindness 1B |
| RS138887489 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143491269 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148524969 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149519053 | Health Risk | Conflicting classifications of pathogenicity | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS150290493 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150968591 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200210006 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy |
| RS201396068 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1B, Retinal dystrophy, Congenital stationary night blindness 1B |
| RS201576815 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201777089 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369642678 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS544297690 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS566355447 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS572890701 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61731186 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61733863 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS62638619 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754893934 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756171835 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757057677 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1B, Congenital stationary night blindness 1B |
| RS770025079 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness, Congenital stationary night blindness 1B, Congenital stationary night blindness |
| RS794727907 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS79602188 | Health Risk | Conflicting classifications of pathogenicity | GRM6-related disorder, Hepatocellular carcinoma, GRM6-related disorder |
| RS1245839329 | Health Risk | Likely pathogenic | — |
| RS1304183009 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1B, Congenital stationary night blindness 1B |
| RS138021998 | Health Risk | Likely pathogenic | — |
| RS1426740204 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1B, Congenital stationary night blindness 1B |
| RS1760621228 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS62638197 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1B, Congenital stationary night blindness, Congenital stationary night blindness 1B |
| RS62638202 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1B, Congenital stationary night blindness 1B |
| RS758498215 | Health Risk | Likely pathogenic | — |
| RS777168556 | Health Risk | Likely pathogenic | Congenital stationary night blindness, Congenital stationary night blindness |
| RS1189004291 | Health Risk | Pathogenic | — |
| RS1351871440 | Health Risk | Pathogenic | — |
| RS1353889281 | Health Risk | Pathogenic | — |
| RS1433868678 | Health Risk | Pathogenic | — |
| RS146746317 | Health Risk | Pathogenic | — |
| RS1760440151 | Health Risk | Pathogenic | — |
| RS1760555124 | Health Risk | Pathogenic | — |
| RS1760572523 | Health Risk | Pathogenic | — |
| RS1760632389 | Health Risk | Pathogenic | — |
| RS1760743459 | Health Risk | Pathogenic | — |
| RS199663175 | Health Risk | Pathogenic | — |
| RS2113326773 | Health Risk | Pathogenic | — |
| RS2113326934 | Health Risk | Pathogenic | — |
| RS2113336038 | Health Risk | Pathogenic | — |