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FLASH GENE

Symbol

GRM6

contributors: mct - updated : 09-03-2016

HGNC name	glutamate receptor, metabotropic 6
HGNC id	4598

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CSNB1B blindness night congenital, stationary 1B, Schubert-Bornschein type
Location	5q35.3      Physical location : 178.405.331 - 178.422.124
Synonym symbol(s)	MGLUR6, MGR6, GPRC1F, mGlu6

DNA

TYPE	functioning gene
STRUCTURE	16.80 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	cytosine-phosphate-guanine/HTF
text structure	cpg in exon 1

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000843 10 - 6143 NP_000834 - 877 - Hashimoto GRM6-V2 - - - - 425 - Valerio lack 97 nucleotides from exon 6 GRM6-V3 - - - - 405 - Valerio lack 5 nucleotides of exon 5

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual

cells

System Cell Pubmed Species Stage Rna symbol Visual bipolar cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven transmembrane segments (7TM) receptor
	a signal peptide of 24 AA
	a ligand-binding domain, poorly characterized cysteine-rich domains, in addition to the intracellular domains, having a pivotal role in correct trafficking of metabotropic glutamate receptors to the cell surface

HOMOLOGY

interspecies

homolog to C.elegans Y4C6A.2

Homologene

FAMILY

G protein coupled receptor superfamily

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	photoreception

basic FUNCTION	metabotropic glutamate receptor, groupe III, linked to the inhibition of cAMP cascade
	neurotransmitter receptor present only in the synapses of the ON bipolar cell dendrites, and mediating synaptic transmission from rod and cone photoreceptors to this type of second-order neuron
	in retinal ON bipolar cells, Go couples the metabotropic receptor GRM6 to the TRPM1 channel and closes it in the dark, thus hyperpolarizing the cell

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

FRMPD2-LRIT1-GRM6 axis regulates selective synapse formation in cone photoreceptors and is essential for normal visual function

a component

INTERACTION

DNA

RNA

small molecule

protein	RGS7 and RGS11 are the key GTPase accelerating proteins (GAPs) in the GRM6 pathway of retinal rod ON bipolar cells that set the sensitivity and time course of light-evoked responses
	GNB3 participates in the G-protein heterotrimer that couples GRM6 to TRPM1
	GPR179 along with RGS7 and RGS11 controls the ability of the GRM6 cascade to gate TRPM1
	LRIT1 interacts with FRMPD2, a photoreceptor scaffold protein, and with GRM6, an ON-bipolar cell-specific glutamate receptor

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CSNB1B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS