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Aliases for GRM6 Gene

Aliases for GRM6 Gene

  • Glutamate Metabotropic Receptor 6 2 3
  • Glutamate Receptor, Metabotropic 6 2 3 5
  • GPRC1F 3 4
  • MGLUR6 3 4
  • CSNB1B 3
  • MGlu6 3

External Ids for GRM6 Gene

Previous GeneCards Identifiers for GRM6 Gene

  • GC05M178429
  • GC05M179301
  • GC05M178505
  • GC05M178324
  • GC05M178392
  • GC05M173132

Summaries for GRM6 Gene

Entrez Gene Summary for GRM6 Gene

  • 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. [provided by RefSeq, Feb 2012]

GeneCards Summary for GRM6 Gene

GRM6 (Glutamate Metabotropic Receptor 6) is a Protein Coding gene. Diseases associated with GRM6 include night blindness, congenital stationary , 1b, autosomal recessive and congenital stationary night blindness. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. GO annotations related to this gene include G-protein coupled receptor activity and glutamate receptor activity. An important paralog of this gene is GRM1.

UniProtKB/Swiss-Prot for GRM6 Gene

  • G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity (By similarity). Signaling stimulates TRPM1 channel activity and Ca(2+) uptake. Required for normal vision.

Tocris Summary for GRM6 Gene

  • Metabotropic Glutamate (mGlu) group III receptors are members of the metabotropic class of glutamate receptors, which also includes mGlu group I and mGlu group II receptors. Group III receptors are divided into four subtypes, mGlu4, mGlu6, mGlu7 and mGlu8.

Gene Wiki entry for GRM6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRM6 Gene

Genomics for GRM6 Gene

Regulatory Elements for GRM6 Gene

Genomic Location for GRM6 Gene

Chromosome:
5
Start:
178,978,327 bp from pter
End:
178,996,206 bp from pter
Size:
17,880 bases
Orientation:
Minus strand

Genomic View for GRM6 Gene

Genes around GRM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRM6 Gene

Proteins for GRM6 Gene

  • Protein details for GRM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15303-GRM6_HUMAN
    Recommended name:
    Metabotropic glutamate receptor 6
    Protein Accession:
    O15303

    Protein attributes for GRM6 Gene

    Size:
    877 amino acids
    Molecular mass:
    95468 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for GRM6 Gene

Proteomics data for GRM6 Gene at MOPED

Post-translational modifications for GRM6 Gene

  • Glycosylation at Asn 296, Asn 451, Asn 479, and Asn 567
  • Modification sites at PhosphoSitePlus

Other Protein References for GRM6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GRM6 Gene

Domains & Families for GRM6 Gene

Gene Families for GRM6 Gene

Suggested Antigen Peptide Sequences for GRM6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15303

UniProtKB/Swiss-Prot:

GRM6_HUMAN :
  • Belongs to the G-protein coupled receptor 3 family.
Family:
  • Belongs to the G-protein coupled receptor 3 family.
genes like me logo Genes that share domains with GRM6: view

Function for GRM6 Gene

Molecular function for GRM6 Gene

GENATLAS Biochemistry:
metabotropic glutamate receptor 6,groupe III,G protein coupled receptor superfamily,restrictidly expressed in retinal bipolar cells,linked to the inhibition of cAMP cascade
UniProtKB/Swiss-Prot Function:
G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity (By similarity). Signaling stimulates TRPM1 channel activity and Ca(2+) uptake. Required for normal vision.

Gene Ontology (GO) - Molecular Function for GRM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IPI 17405131
genes like me logo Genes that share ontologies with GRM6: view
genes like me logo Genes that share phenotypes with GRM6: view

Human Phenotype Ontology for GRM6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRM6 Gene

MGI Knock Outs for GRM6:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRM6 Gene

Localization for GRM6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRM6 Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=Subject to trafficking from the endoplasmic reticulum to the Golgi apparatus and then to the cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRM6 Gene COMPARTMENTS Subcellular localization image for GRM6 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GRM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with GRM6: view

Pathways & Interactions for GRM6 Gene

genes like me logo Genes that share pathways with GRM6: view

Gene Ontology (GO) - Biological Process for GRM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007216 G-protein coupled glutamate receptor signaling pathway IMP 23452348
GO:0050953 sensory perception of light stimulus IEA --
GO:0090280 positive regulation of calcium ion import IMP 23452348
genes like me logo Genes that share ontologies with GRM6: view

No data available for SIGNOR curated interactions for GRM6 Gene

Drugs & Compounds for GRM6 Gene

(16) Drugs for GRM6 Gene - From: IUPHAR, DGIdb, Novoseek, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-AP4 Pharma Agonist Selective group III mGlu agonist 0
(<i>R,S</i>)-4-PPG Pharma Full agonist, Agonist 0
(<i>S</i>)-3,4-DCPG Pharma Full agonist, Agonist 0
(1<i>S</i>,3<i>R</i>)-ACPD Pharma Full agonist, Agonist 0
[<sup>3</sup>H]LY341495 Pharma Antagonist 0

(8) Additional Compounds for GRM6 Gene - From: IUPHAR, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2<i>S</i>,1<i>S</i>,2<i>S</i>)-L-CCG-I
Full agonist, Agonist
L-SOP
Agonist
(RS)-PPG
120667-15-4
(S)-3,4-DCPG
201730-11-2
ACPT-I
194918-76-8
genes like me logo Genes that share compounds with GRM6: view

Transcripts for GRM6 Gene

mRNA/cDNA for GRM6 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GRM6 Gene

Glutamate receptor, metabotropic 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GRM6 Gene

No ASD Table

Relevant External Links for GRM6 Gene

GeneLoc Exon Structure for
GRM6
ECgene alternative splicing isoforms for
GRM6

Expression for GRM6 Gene

mRNA expression in normal human tissues for GRM6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRM6 Gene

This gene is overexpressed in Pituitary (x5.1) and Testis (x4.3).

Protein differential expression in normal tissues from HIPED for GRM6 Gene

This gene is overexpressed in Frontal cortex (31.9), Seminal vesicle (28.3), and Retina (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRM6 Gene



SOURCE GeneReport for Unigene cluster for GRM6 Gene Hs.248131

mRNA Expression by UniProt/SwissProt for GRM6 Gene

O15303-GRM6_HUMAN
Tissue specificity: Detected in melanocytes.
genes like me logo Genes that share expression patterns with GRM6: view

Protein tissue co-expression partners for GRM6 Gene

Primer Products

In Situ Assay Products

Orthologs for GRM6 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRM6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRM6 35
  • 99.01 (n)
  • 98.97 (a)
GRM6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRM6 35
  • 90.45 (n)
  • 96.48 (a)
GRM6 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRM6 36
  • 95 (a)
OneToOne
GRM6 35
  • 91.1 (n)
  • 96.34 (a)
mouse
(Mus musculus)
Mammalia Grm6 36
  • 94 (a)
OneToOne
Grm6 16
Grm6 35
  • 88.04 (n)
  • 94.61 (a)
oppossum
(Monodelphis domestica)
Mammalia GRM6 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRM6 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grm6 35
  • 88.2 (n)
  • 94.61 (a)
lizard
(Anolis carolinensis)
Reptilia GRM6 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grm8 35
  • 76.09 (n)
  • 78.38 (a)
zebrafish
(Danio rerio)
Actinopterygii grm6a 36
  • 70 (a)
OneToMany
grm6b 36
  • 70 (a)
OneToMany
grm6b 35
  • 71.46 (n)
  • 77.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30361 37
  • 42 (a)
Glu-RA 37
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea mgl-1 37
  • 37 (a)
Species with no ortholog for GRM6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRM6 Gene

ENSEMBL:
Gene Tree for GRM6 (if available)
TreeFam:
Gene Tree for GRM6 (if available)

Paralogs for GRM6 Gene

Paralogs for GRM6 Gene

(9) SIMAP similar genes for GRM6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GRM6: view

Variants for GRM6 Gene

Sequence variations from dbSNP and Humsavar for GRM6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_030756 Night blindness, congenital stationary, 1B (CSNB1B)
VAR_030757 Night blindness, congenital stationary, 1B (CSNB1B)
VAR_036195 A breast cancer sample
rs17078898 - 178,991,908(-) TGGCG(A/T)AAGTG reference, missense
rs17078896 - 178,991,882(-) TTCAG(A/T)TCTCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GRM6 Gene

Variant ID Type Subtype PubMed ID
dgv6389n71 CNV Gain 21882294
dgv364n21 CNV Loss 19592680
nsv883221 CNV Gain 21882294

Variation tolerance for GRM6 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.01; 74.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRM6 Gene

HapMap Linkage Disequilibrium report
GRM6
Human Gene Mutation Database (HGMD)
GRM6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRM6 Gene

Disorders for GRM6 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GRM6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
night blindness, congenital stationary , 1b, autosomal recessive
  • congenital stationary night blindness, type 1b
congenital stationary night blindness
  • congenital essential nyctalopia
autosomal recessive congenital stationary night blindness
  • autosomal recessive complete congenital stationary night blindness
suppression amblyopia
  • strabismic amblyopia
night blindness
- elite association - COSMIC cancer census association via MalaCards
Search GRM6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRM6_HUMAN
  • Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270]: 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. {ECO:0000269 PubMed:15781871, ECO:0000269 PubMed:17405131, ECO:0000269 PubMed:23714322}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GRM6

Genetic Association Database (GAD)
GRM6
Human Genome Epidemiology (HuGE) Navigator
GRM6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRM6
genes like me logo Genes that share disorders with GRM6: view

No data available for Genatlas for GRM6 Gene

Publications for GRM6 Gene

  1. The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6. (PMID: 9215706) Hashimoto T. … Nakanishi S. (Eur. J. Neurosci. 1997) 2 3 4 23 67
  2. Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. (PMID: 19666700) Beqollari D. … Kammermeier P.J. (Mol. Pharmacol. 2009) 3 23
  3. Sequence variations of GRM6 in patients with high myopia. (PMID: 19862333) Xu X. … Zhang Q. (Mol. Vis. 2009) 3 23
  4. Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. (PMID: 17405131) Zeitz C. … Berger W. (Hum. Mutat. 2007) 3 23
  5. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. (PMID: 15781871) Dryja T.P. … Rajagopalan A.S. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 23

Products for GRM6 Gene

Sources for GRM6 Gene

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