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

Gene ID: 2916, updated on 16-Oct-2021

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
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
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Genomic context

See GRM6 in Genome Data Viewer
Location:
5q35.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (178978327..178995320, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (178405328..178422321, 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital stationary night blindness, type 1B
MedGen: C1850362 OMIM: 257270 GeneReviews: Not available
Compare labs
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686H1993

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
PubMed 
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 
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 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in new growing cell tip IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

  1. NG_008105.1 RefSeqGene

    Range
    4804..21797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1236

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
    ENSP00000430767.1, ENST00000517717.3
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    178978327..178995320 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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