GRM6 (glutamate metabotropic receptor 6)

2014-11-01  

Identity

HGNC
LOCATION
5q35.3
LOCUSID
ALIAS
CSNB1B,GPRC1F,MGLUR6,mGlu6

Other Information

Locus ID:

NCBI: 2916
MIM: 604096
HGNC: 4598
Ensembl: ENSG00000113262

Variants:

dbSNP: 2916
ClinVar: 2916
TCGA: ENSG00000113262
COSMIC: GRM6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113262ENST00000231188O15303
ENSG00000113262ENST00000517717O15303
ENSG00000113262ENST00000650031O15303

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class C/3 (Metabotropic glutamate/pheromone receptors)REACTOMER-HSA-420499
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
162495152005Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.50
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
181957152008Genotype patterns that contribute to increased risk for or protection from developing heroin addiction.37
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
237143222013Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.29
229593592012Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.23
174051312007Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.18
234523482013Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes.13
220082502012A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.12

Citation

Dessen P

GRM6 (glutamate metabotropic receptor 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64052/grm6