Aliases for GRM6 Gene
Aliases for GRM6 Gene
External Ids for GRM6 Gene
- HGNC: 4598
- Entrez Gene: 2916
- Ensembl: ENSG00000113262
- OMIM: 604096
- UniProtKB: O15303
Previous GeneCards Identifiers for GRM6 Gene
- GC05M178429
- GC05M179301
- GC05M178505
- GC05M178324
- GC05M178392
- GC05M173132
Summaries 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, Type 1B and Congenital Stationary Night Blindness. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and glutamate receptor activity. An important paralog of this gene is GRM8.
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.
-
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.
Additional gene information for GRM6 Gene
- Monarch Initiative
- Search for GRM6 at DataMed
- Search for GRM6 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRM6 Gene
Genomics for GRM6 Gene
GeneHancer (GH) Regulatory Elements for GRM6 Gene
Promoters and enhancers for GRM6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around GRM6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GRM6 gene promoter:
-
- PPAR-gamma2
- PPAR-gamma1
- deltaCREB
- CREB
- CUTL1
- AhR
- Egr-2
- RFX1
- c-Myb
- AML1a
Regulatory Element Products
Genomic Locations for GRM6 Gene
Genomic Locations for GRM6 Gene
- chr5:178,978,327-178,996,206
- (GRCh38/hg38)
- Size:
- 17,880 bases
- Orientation:
- Minus strand
- chr5:178,405,328-178,423,207
- (GRCh37/hg19)
- 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:
-
- 5q35.3 by Entrez Gene
- 5q35.3 by HGNC
- 5q35.3 by Ensembl
GRM6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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.
Protein Expression for GRM6 Gene
Post-translational modifications for GRM6 Gene
Other Protein References for GRM6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for GRM6
-
Abcam antibodies for GRM6
- Invitrogen Antibodies for GRM6 (AFLGC-GRM6)
- GeneTex GRM6 Antibody for GRM6
-
Santa Cruz Biotechnology (SCBT) Antibodies for GRM6
Protein Products
-
OriGene Purified Proteins for GRM6
- Search Origene for MassSpec and Protein Over-expression Lysates for GRM6
- Origene Custom Protein Services for GRM6
- Search GeneTex for Proteins for GRM6
-
Abcam proteins for GRM6
Assay Products
No data available for DME Specific Peptides for GRM6 Gene
Domains & Families for GRM6 Gene
Gene Families for GRM6 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- G-protein coupled receptors
- Potential drug targets
- Predicted membrane proteins
Protein Domains for GRM6 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GRM6 Gene
Graphical View of Domain Structure for InterPro Entry
O15303- Family:
-
- Belongs to the G-protein coupled receptor 3 family.
Function for GRM6 Gene
Molecular function for GRM6 Gene
- 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.
- 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
Phenotypes From GWAS Catalog for GRM6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001640 | adenylate cyclase inhibiting G-protein coupled glutamate receptor activity | IEA | -- |
| GO:0001642 | group III metabotropic glutamate receptor activity | IBA | -- |
| GO:0004871 | obsolete signal transducer activity | IEA | -- |
| GO:0004930 | G-protein coupled receptor activity | TAS | 9215706 |
| GO:0005515 | protein binding | IPI | 17405131 |
Phenotypes for GRM6 Gene
- MGI mutant phenotypes for GRM6:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for GRM6:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GRM6
-
CRISPR Products
-
OriGene CRISPR knockouts for GRM6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRM6
- Applied Biological Materials CRISPR for GRM6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GRM6
- GenScript: Design CRISPR guide RNA sequences for GRM6
miRNA for GRM6 Gene
- miRTarBase miRNAs that target GRM6
-
- hsa-mir-5089-5p (MIRT677756)
- hsa-mir-4279 (MIRT677757)
- hsa-mir-7151-3p (MIRT677758)
- hsa-mir-5095 (MIRT677759)
- hsa-mir-6778-3p (MIRT677760)
- hsa-mir-6506-5p (MIRT677761)
- hsa-mir-619-5p (MIRT677762)
- hsa-mir-1976 (MIRT677763)
- hsa-mir-3653-5p (MIRT677764)
- hsa-mir-150-5p (MIRT677765)
- hsa-mir-6747-3p (MIRT677766)
- hsa-mir-6727-3p (MIRT677767)
- hsa-mir-4722-3p (MIRT677768)
- hsa-mir-6814-5p (MIRT677769)
- hsa-mir-6504-3p (MIRT677770)
- hsa-mir-4438 (MIRT677771)
- hsa-mir-582-3p (MIRT677772)
- hsa-mir-1306-5p (MIRT762456)
- hsa-mir-1915-3p (MIRT763421)
- hsa-mir-4726-3p (MIRT771654)
- hsa-mir-498 (MIRT772833)
- hsa-mir-6764-5p (MIRT778510)
- hsa-mir-6840-3p (MIRT780135)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRM6
- Browse OriGene Inhibitory RNA Products For GRM6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRM6
Clone Products
- Sino Biological Human cDNA Clone for GRM6
- Addgene plasmids for GRM6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRM6
- genomics-online: cdna clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- orf clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- Applied Biological Materials Clones for GRM6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for GRM6 (mGluR6)
Cell Line Products
-
Horizon Cell Lines for GRM6
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IDA | 17405131 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IDA,IEA | 17405131 |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRM6 Gene
Pathways & Interactions for GRM6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors | ||
| 2 | Signaling by GPCR | ||
| 3 | Circadian entrainment | ||
| 4 | Phospholipase D signaling pathway | ||
| 5 | CREB Pathway |
.68
|
|
Pathways by source for GRM6 Gene
1 BioSystems pathway for GRM6 Gene
6 Reactome pathways for GRM6 Gene
3 KEGG pathways for GRM6 Gene
1 R&D Systems pathway for GRM6 Gene
3 Qiagen pathways for GRM6 Gene
Interacting Proteins for GRM6 Gene
GPS-Prot Interaction Network for GRM6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007186 | G-protein coupled receptor signaling pathway | TAS | -- |
| GO:0007196 | adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway | IBA,IEA | -- |
| GO:0007216 | G-protein coupled glutamate receptor signaling pathway | IMP,TAS | 23452348 |
| GO:0007268 | chemical synaptic transmission | IEA | -- |
No data available for SIGNOR curated interactions for GRM6 Gene
Drugs & Compounds for GRM6 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glutamic Acid | Approved | Nutra | Full agonist, Agonist, antagonist | 251 | ||
| Spaglumic acid | Approved | Pharma | Selective mGlu3 agonist | 0 | ||
| Fenobam | Investigational | Pharma | Negative, Allosteric regulator | 0 | ||
| Kynurenic acid | Investigational | Pharma | Agonist | 4 | ||
| L-AP4 | Pharma | Full agonist, Agonist | Selective group III mGlu agonist | 0 |
| 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 |
|
Full agonist, Agonist |
|
(5) Tocris Compounds for GRM6 Gene
| Compound | Action | Cas Number |
|---|---|---|
| (RS)-PPG | Potent, selective mGlu8 agonist | 120667-15-4 |
| (S)-3,4-DCPG | Potent, selective mGlu8a agonist | 201730-11-2 |
| ACPT-I | Group III mGlu agonist | 194918-76-8 |
| L-AP4 | Selective group III mGlu agonist | 23052-81-5 |
| O-Phospho-L-serine | Group III mGlu agonist | 407-41-0 |
Drug Products
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 :
-
- ENST00000517717 2673 bps (uc063kls.1)
- ENST00000519003 538 bps (uc063klt.1)
- ENST00000518082 579 bps (uc063klu.1)
- ENST00000519175 363 bps (uc063klv.1)
- ENST00000231188 6143 bps (uc003mjr.4)
Unigene Clusters for GRM6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GRM6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRM6
- Applied Biological Materials CRISPR for GRM6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GRM6
- GenScript: Design CRISPR guide RNA sequences for GRM6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRM6
- Browse OriGene Inhibitory RNA Products For GRM6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRM6
Clone Products
- Sino Biological Human cDNA Clone for GRM6
- Addgene plasmids for GRM6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRM6
- genomics-online: cdna clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- orf clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- Applied Biological Materials Clones for GRM6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for GRM6 (mGluR6)
Expression for GRM6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Type5 On Cone Bipolar Cells Inner Nuclear Layer
- Mature Rod Bipolar Cells Inner Nuclear Layer
- Type8 On Cone Bipolar Cells Inner Nuclear Layer
- Type6 On Cone Bipolar Cells Inner Nuclear Layer
- Type9 On Cone Bipolar Cells Inner Nuclear Layer
-
Neurons
- Type5 On Cone Bipolar Cells Inner Nuclear Layer
- Mature Rod Bipolar Cells Inner Nuclear Layer
- Type8 On Cone Bipolar Cells Inner Nuclear Layer
- Type6 On Cone Bipolar Cells Inner Nuclear Layer
- Type9 On Cone Bipolar Cells Inner Nuclear Layer
mRNA differential expression in normal tissues according to GTEx for GRM6 Gene
This gene is overexpressed in Pituitary (x5.1) and Testis (x4.3).
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 and MOPED for GRM6 Gene
NURSA nuclear receptor signaling pathways regulating expression of GRM6 Gene:
GRM6SOURCE GeneReport for Unigene cluster for GRM6 Gene:
Hs.248131mRNA Expression by UniProt/SwissProt for GRM6 Gene:
O15303-GRM6_HUMAN
Tissue specificity:
Detected in melanocytes.
Evidence on tissue expression from TISSUES for GRM6 Gene
- Eye(2.8)
- Nervous system(2.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GRM6 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- integumentary
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
General:
- blood
- peripheral nervous system
- skin
- white blood cell
Gene Expression Assay Products
Orthologs for GRM6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GRM6 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GRM6 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GRM6 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Grm6 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Grm6 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | GRM6 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | GRM6 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GRM6 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | grm8 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | grm6b 34 33 |
|
OneToMany | |
| grm6a 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Glu-RA 35 |
|
|
|
| CG30361 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | mgl-1 35 |
|
|
- Species where no ortholog for GRM6 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for GRM6: view image
Paralogs for GRM6 Gene
Variants for GRM6 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11746675 | not-provided, benign, not provided, not specified | 178,986,946(-) | T/C | coding_sequence_variant, synonymous_variant | |
| rs121434304 | conflicting-interpretations-of-pathogenicity, likely-pathogenic, Congenital stationary night blindness, type 1B, not provided, Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270] | 178,989,075(-) | A/G/T | coding_sequence_variant, missense_variant | |
| rs17078894 | not-provided, conflicting-interpretations-of-pathogenicity, not provided, not specified | 178,991,554(-) | C/A/G/T | coding_sequence_variant, missense_variant | |
| rs201396068 | uncertain-significance, Congenital stationary night blindness, type 1B | 178,986,717(-) | C/A/T | coding_sequence_variant, missense_variant | |
| rs2067011 | not-provided, benign, not provided, not specified | 178,988,936(-) | A/G | coding_sequence_variant, synonymous_variant |
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)
Additional Variant Information for GRM6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRM6 Gene
Disorders for GRM6 Gene
(8) MalaCards diseases for GRM6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| night blindness, congenital stationary, type 1b |
|
|
| congenital stationary night blindness |
|
|
| suppression amblyopia |
|
|
| night blindness |
|
|
| autosomal recessive congenital stationary night blindness |
|
|
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.
Additional Disease Information for GRM6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GRM6 Gene
Publications for GRM6 Gene
- The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6. (PMID: 9215706) Hashimoto T … Nakanishi S (The European journal of neuroscience 1997) 2 3 4 22 58
- Sequence variations of GRM6 in patients with high myopia. (PMID: 19862333) Xu X … Zhang Q (Molecular vision 2009) 3 22 44 58
- 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 (Human mutation 2007) 3 4 22 58
- Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. (PMID: 15781871) Dryja TP … Rajagopalan AS (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 58
- Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes. (PMID: 23452348) Devi S … Setaluri V (Pigment cell & melanoma research 2013) 3 4 58
Products for GRM6 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for GRM6 (mGluR6)
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GRM6
- Search Origene for MassSpec and Protein Over-expression Lysates for GRM6
- Origene Custom Protein Services for GRM6
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRM6
- Browse OriGene Inhibitory RNA Products For GRM6
- OriGene qPCR primer pairs for GRM6
- OriGene CRISPR knockouts for GRM6
- OriGene ORF clones in human for GRM6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GRM6
- GenScript: Next-day shipping of latest version cDNA ORF clones for GRM6 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for GRM6
- GenScript Custom Assay Services for GRM6
- GenScript Custom overexpressing Cell Line Services for GRM6
- GenScript: Design CRISPR guide RNA sequences for GRM6
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for GRM6
- Sino Biological Human cDNA Clone for GRM6
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GRM6
- Novus Biologicals proteins and lysates for GRM6
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for GRM6
- Abcam proteins for GRM6
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for GRM6 (AFLGC-GRM6)
- Cyagen custom Knockout/knockin (KOKI) mouse models for GRM6
- Addgene plasmids for GRM6
- antibodies-online: Search results for available Metabotropic Glutamate Receptor 6 related products ranked by validation data
- antibodies-online: Search results for 15 available Metabotropic Glutamate Receptor 6 Elisa Kits ranked by validation data
- Compare Top Metabotropic Glutamate Receptor 6 Elisa Kits
- antibodies-online: Search results for 5 available Metabotropic Glutamate Receptor 6 Proteins ranked by validation data
- Compare Top Metabotropic Glutamate Receptor 6 Proteins
- Quality Products:
- GeneTex GRM6 Antibody for GRM6
- Search GeneTex for Proteins for GRM6
- Santa Cruz Biotechnology (SCBT) Antibodies for GRM6
- Search Santa Cruz Biotechnology (SCBT) for GRM6 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GRM6
- Horizon Cell Lines for GRM6
- genomics-online: cdna clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- orf clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- genomics-online: gRNA clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- genomics-online: primer clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- genomics-online: shRNA clones - Search results for 68 available Metabotropic Glutamate Receptor 6 gene related products
- Overview of 68 available Metabotropic Glutamate Receptor 6 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRM6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRM6
- GeneCopoeia miRNA 3'UTR Target clone products for GRM6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRM6
Sources for GRM6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt