Entity Details

Primary name GRM6
Entity type gene
Source Source Link

Details

PrimaryID2916
RefseqGeneNG_008105
SymbolGRM6
Nameglutamate metabotropic receptor 6
Chromosome5
Location5q35.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGRM6_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001640 adenylate cyclase inhibiting G protein-coupled glutamate receptor activity
GO:0004930 G protein-coupled receptor activity
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007216 G protein-coupled glutamate receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0007626 locomotory behavior
GO:0008066 glutamate receptor activity
GO:0009584 detection of visible light
GO:0030425 dendrite
GO:0035841 new growing cell tip
GO:0042803 protein homodimerization activity
GO:0045202 synapse
GO:0050908 detection of light stimulus involved in visual perception
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0060041 retina development in camera-type eye
GO:0090280 positive regulation of calcium ion import

Diseases

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Disease IDSourceNameDescription
257270 OMIMNight blindness, congenital stationary, 1B (CSNB1B)A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1B is an autosomal recessive form associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark-adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b-waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced on response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
GRM6CLK1BioGRID26167880 details
GRM6GNAO1HPRD11124982 details