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

Gene ID: 2916, updated on 8-Jun-2018
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; Vega:OTTHUMG00000130889
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
See GRM6 in Genome Data Viewer
Location:
5q35.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (178978327..178995123, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (178405328..178422124, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ZFP2 zinc finger protein Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F pseudogene 1 Neighboring gene zinc finger protein 454 Neighboring gene F-box and WD repeat domain containing 2 pseudogene Neighboring gene zinc finger protein 879

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Congenital stationary night blindness, type 1B
MedGen: C1850362 OMIM: 257270 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
NHGRI GWA Catalog
  • Class C/3 (Metabotropic glutamate/pheromone receptors), organism-specific biosystem (from REACTOME)
    Class C/3 (Metabotropic glutamate/pheromone receptors), organism-specific biosystemThe class C G-protein-coupled receptors are a class of G-protein coupled receptors that include the metabotropic glutamate receptors and several additional receptors (Brauner-Osborne H et al, 2007). ...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class C Metabotropic glutamate, pheromone, organism-specific biosystem (from WikiPathways)
    GPCRs, Class C Metabotropic glutamate, pheromone, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • Glutamatergic synapse, organism-specific biosystem (from KEGG)
    Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Glutamatergic synapse, conserved biosystem (from KEGG)
    Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Phospholipase D signaling pathway, organism-specific biosystem (from KEGG)
    Phospholipase D signaling pathway, organism-specific biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
  • Phospholipase D signaling pathway, conserved biosystem (from KEGG)
    Phospholipase D signaling pathway, conserved biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686H1993

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein coupled receptor activity TAS
Traceable Author Statement
more info
PubMed 
adenylate cyclase inhibiting G-protein coupled glutamate receptor activity IEA
Inferred from Electronic Annotation
more info
 
glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamate receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutamate receptor activity TAS
Traceable Author Statement
more info
PubMed 
group III metabotropic glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G-protein coupled glutamate receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-protein coupled glutamate receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
G-protein coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
detection of visible light TAS
Traceable Author Statement
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
positive regulation of calcium ion import IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
new growing cell tip IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
metabotropic glutamate receptor 6
Names
glutamate receptor, metabotropic 6

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

  1. NG_008105.1 RefSeqGene

    Range
    4804..21797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000843.4NP_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
    ENSP00000231188.5, ENST00000231188.9
    Conserved Domains (4) summary
    pfam00003
    Location:597842
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:67476
    ANF_receptor; Receptor family ligand binding region
    pfam07562
    Location:515562
    NCD3G; Nine Cysteines Domain of family 3 GPCR
    cl10011
    Location:45506
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    178978327..178995123 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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