GRM6 glutamate metabotropic receptor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRM6provided by HGNC
Official Full Name: glutamate metabotropic receptor 6provided by HGNC
Primary source: HGNC:HGNC:4598
See related: Ensembl:ENSG00000113262 MIM:604096; AllianceGenome:HGNC:4598
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: mGlu6; CSNB1B; GPRC1F; MGLUR6
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (178978327..178995320, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (179531590..179548578, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (178405328..178422321, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study reported a rare case of pseudodominantly inherited autosomal recessive congenital stationary night blindness in a family with three co-segregating deleterious variants (p.Arg621Ter, p.Gly51Val, and p.Gly464Arg) of GRM6.
Title: Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.
We identified a novel homozygous missense mutation in exon 8 of GRM6 (NM_000843.3).
Title: Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.
Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated.
Title: Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study.
Two mutations in GRM6 gene have been identified in two consanguineous Pakistani families with congenital stationary night blindness.
Title: Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
These data suggest differences in coupling of TRPM1 function to mGluR6 signaling explain different cellular responses to glutamate in the retina and the skin.
Title: Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes.
We found 5 different mutations in GRM6, in congenital stationary night blindness.
Title: Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
The selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar or ganglion cell numbers or altered synaptic structure in the inner retina.
Title: Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB).
Title: Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
The phenotype associated with GRM6 mutation is variable in terms of presentation, refractive error, visual acuity and macular function. ERGs are electronegative and suggest ON-pathway dysfunction.
Title: A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
A positive association was observed between response to methadone and two variants in the genes MYOCD and GRM6.
Title: Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital stationary night blindness 1B MedGen: C1850362 OMIM: 257270 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	TAS Traceable Author Statement more info	PubMed
enables adenylate cyclase inhibiting G protein-coupled glutamate receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutamate receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glutamate receptor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled glutamate receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled glutamate receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of visible light	TAS Traceable Author Statement more info	PubMed
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium ion import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in new growing cell tip	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: metabotropic glutamate receptor 6

Names: glutamate receptor, metabotropic 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008105.1 RefSeqGene

Range

4804..21797

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1236

mRNA and Protein(s)

NM_000843.4 → NP_000834.2 metabotropic glutamate receptor 6 precursor

See identical proteins and their annotated locations for NP_000834.2

Status: REVIEWED

Source sequence(s)

AC104117, BM665594, BM681239, BM726590, BX647168, BY796285, BY797310

Consensus CDS

CCDS4442.1

UniProtKB/Swiss-Prot

O15303

Related

ENSP00000430767.1, ENST00000517717.3

Conserved Domains (4) summary

pfam00003
Location:597 → 842

7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR

pfam01094
Location:67 → 476

ANF_receptor; Receptor family ligand binding region

pfam07562
Location:515 → 562

NCD3G; Nine Cysteines Domain of family 3 GPCR

cl10011
Location:45 → 506

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily