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GRM6 Gene

protein-coding   GIFtS: 65
GCID: GC05M178392

Glutamate Receptor, Metabotropic 6

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glutamate Receptor, Metabotropic 61 2     mGlu62
MGLUR62 3 5     Metabotropic Glutamate Receptor 62
GPRC1F2 3     mGluR63
CSNB1B2 5     

External Ids:    HGNC: 45981   Entrez Gene: 29162   Ensembl: ENSG000001132627   OMIM: 6040965   UniProtKB: O153033   

Export aliases for GRM6 gene to outside databases

Previous GC identifers: GC05M178429 GC05M179301 GC05M178505 GC05M178324 GC05M173132


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 receptor, metabotropic 6) is a protein-coding gene. Diseases associated with GRM6 include congenital stationary night blindness, type 1b, and night blindness, congenital stationary , 1b, autosomal recessive. GO annotations related to this gene include G-protein coupled receptor activity and glutamate receptor activity. An important paralog of this gene is GRM7.

UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303
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

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. The receptors are coupled to Gi/o which inhibits adenylyl
cyclase, decreasing the formation of cAMP. mGlu group III receptors are involved in spatial learning and
memory, and umami taste (mGlu4), stimulation of photoreceptors (mGlu6), long term depression (mGlu7) and
presynaptic inhibition in the perforant pathway (mGlu8). The human genes for mGlu4, mGlu6, mGlu7 and mGlu8
receptors have been localized to chromosomes 6 (6p21.3), 5 (5q35), 3 (3p26-p25) and 7 (7q31.3-q32.1)
respectively.

Gene Wiki entry for GRM6 (Metabotropic glutamate receptor 6) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the GRM6 gene promoter:
         AhR   RFX1   AML1a   CUTL1   CREB   Egr-2   PPAR-gamma1   deltaCREB   c-Myb   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRM6 promoter sequence
   Search Chromatin IP Primers for GRM6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GRM6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35

GRM6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRM6 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M178392:  view genomic region     (about GC identifiers)

Start:
178,405,328 bp from pter      End:
178,423,207 bp from pter
Size:
17,880 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303 (See protein sequence)
Recommended Name: Metabotropic glutamate receptor 6 precursor  
Size: 877 amino acids; 95468 Da
Subunit: Homodimer

Explore the universe of human proteins at neXtProt for GRM6: NX_O15303

Explore proteomics data for GRM6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn296, Asn451, Asn479, Asn567

  • See GRM6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000834.2  
    ENSEMBL proteins: 
     ENSP00000430767   ENSP00000231188  
    Reactome Protein details: O15303

    GRM6 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant GRM6 Protein
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    OriGene Protein Over-expression Lysate for GRM6
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    Novus Biologicals GRM6 Proteins
    Novus Biologicals GRM6 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for GRM6

    GRM6 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for GRM6

    GRM6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for GRM6
    Cloud-Clone Corp. CLIAs for GRM6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GR: Glutamate receptors
    GRM: GPCR / Class C : Glutamate receptors, metabotropic

    IUPHAR Guide to PHARMACOLOGY protein family classification: mGlu6 receptor
    Metabotropic glutamate receptors

    Selected InterPro protein domains (see all 8):
     IPR011500 GPCR_3_9-Cys_dom
     IPR028082 Peripla_BP_I
     IPR000337 GPCR_3
     IPR017979 GPCR_3_CS
     IPR000112 GPCR_3_mtglu_rcpt_6

    Graphical View of Domain Structure for InterPro Entry O15303

    ProtoNet protein and cluster: O15303

    4 Blocks protein domains:
    IPB000112 Metabotropic glutamate receptor 6 signature
    IPB000162 Metabotropic glutamate receptor signature
    IPB000337 G-protein coupled receptors family 3 (Metabotropic glutamate receptor-like)
    IPB001828 Extracellular ligand-binding receptor


    UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303
    Similarity: Belongs to the G-protein coupled receptor 3 family


    GRM6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GRM6_HUMAN, O15303
    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 entry for GRM6:
    metabotropic glutamate receptor 6,groupe III,G protein coupled receptor superfamily,restrictidly expressed in
    retinal bipolar cells,linked to the inhibition of cAMP cascade

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001640adenylate cyclase inhibiting G-protein coupled glutamate receptor activity IEA--
    GO:0004930G-protein coupled receptor activity TAS9215706
    GO:0005515protein binding IPI17405131
    GO:0008066glutamate receptor activity TAS9215706
    GO:0042803protein homodimerization activity IPI17405131
         
    GRM6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GRM6:
     Increased HPV18 LCR reporter a 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Grm6):
     behavior/neurological  nervous system  vision/eye 

    GRM6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Grm6tm1Nak for GRM6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GRM6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GRM6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GRM6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GRM6

    miRNA
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    Block miRNA regulation of human, mouse, rat GRM6 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate GRM6:
    hsa-miR-1270 hsa-miR-620 hsa-miR-532-5p hsa-miR-185 hsa-miR-4306 hsa-miR-548aa
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GRM6

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GRM6 (NM_000843)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GRM6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GRM6

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRM6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GRM6_HUMAN, O15303: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass
    membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection, dendrite (By
    similarity). Note=Subject to trafficking from the endoplasmic reticulum to the Golgi apparatus and then to the
    cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA17405131
    GO:0005789endoplasmic reticulum membrane IDA17405131
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA17405131
    GO:0016021integral component of membrane ----

    GRM6 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GRM6 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    G alpha (i) signalling events0.44
    2Glutamic acid signaling
    Glutamic acid signaling
    Synaptic Neurotransmission: Glutamatergic Excitation0.00
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4CREB Pathway
    CREB Pathway0.68
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GRM6
        Synaptic Neurotransmission: Glutamatergic Excitation

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GRM6
        Neuropathic Pain-Signaling in Dorsal Horn Neurons
    CREB Pathway
    Signaling in Gap Junctions

    1 BioSystems Pathway for GRM6
        GPCRs, Class C Metabotropic glutamate, pheromone

    2 Reactome Pathways for GRM6
        Class C/3 (Metabotropic glutamate/pheromone receptors)
    G alpha (i) signalling events


    2 Kegg Pathways  (Kegg details for GRM6):
        Neuroactive ligand-receptor interaction
    Glutamatergic synapse


    GRM6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GRM6: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GRM6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for GRM6 (O153033 ENSP000002311884) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNAO1P094713, ENSP000002624934I2D: score=1 STRING: ENSP00000262493
    GRIP1Q9Y3R03, ENSP000003810984I2D: score=2 STRING: ENSP00000381098
    SDCBPO005603I2D: score=2 
    FOXO3O435243I2D: score=1 
    PRKAG1P546193I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007196adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway ----
    GO:0007216G-protein coupled glutamate receptor signaling pathway IMP--
    GO:0007268synaptic transmission IEA--

    GRM6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GRM6
      Browse compounds at ApexBio 

    Compounds for GRM6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    MSOPSpecific group III mGlu antagonist[66515-29-5]
    L-AP4Selective group III mGlu agonist[23052-81-5]
    (S)-3,4-DCPG Potent, selective mGlu8a agonist [201730-11-2]
    AMN 082 dihydrochlorideThe first selective mGlu7 agonist[97075-46-2]
    CPPGVery potent group III mGlu antagonist[183364-82-1]

    Selected IUPHAR Ligands for GRM6 (mGlu6 receptor) (see all 12)    About this table
    LigandTypeActionAffinityPubmed IDs
    L-AP4
    AgonistFull agonist6.7 - 7.311166323 9144651
    LY379268
    AgonistFull agonist6.410090786
    L-SOP
    AgonistFull agonist6.49144651
    (2S,1S,2S)-L-CCG-I
    AgonistFull agonist6.29144651
    LY354740
    AgonistFull agonist5.510090786
    (S)-3,4-DCPG
    AgonistFull agonist5.411166323
    (R,S)-4-PPG
    AgonistFull agonist5.311166323 10336568
    L-glutamic acid
    AgonistFull agonist5.29144651
    (1S,3R)-ACPD
    AgonistFull agonist4.79144651
    [3H]LY341495
    AntagonistAntagonist4.511138847

    4 Novoseek inferred chemical compound relationships for GRM6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 73.9 45 11292414 (4), 17430614 (2), 11179672 (2), 9357538 (2) (see all 23)
    kainate 51.1 3 18653656 (1), 10515165 (1)
    nmda 38.2 2 10515165 (1)
    aspartate 9.78 1 8759641 (1)



    GRM6 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GRM6 gene: 
    NM_000843.3  

    Unigene Cluster for GRM6:

    Glutamate receptor, metabotropic 6
    Hs.248131  [show with all ESTs]
    Unigene Representative Sequence: NM_000843
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000517717(uc010jla.1 uc003mjs.1) ENST00000519003 ENST00000518082
    ENST00000519175 ENST00000231188(uc003mjq.3 uc003mjr.3)
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate GRM6:
    hsa-miR-1270 hsa-miR-620 hsa-miR-532-5p hsa-miR-185 hsa-miR-4306 hsa-miR-548aa
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector: GRM6 (NM_000843)
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      QuantiFast Probe-based Assays in human, mouse, rat GRM6

    Additional mRNA sequence: 

    AJ245871.1 AJ245872.1 BX647168.1 

    1 DOTS entry:

    DT.91701632 

    8 AceView cDNA sequences:

    BM681239 BX647168 NM_000843 BM665594 AJ245872 AJ245871 BM726590 W25882 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GRM6 expression in normal human tissues (normalized intensities)      GRM6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTACACAAT
    GRM6 Expression
    About this image


    GRM6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             Type7 On Cone Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             Type7 On Cone Bipolar Cells Inner Nuclear Layer
    GRM6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GRM6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248131

    UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303
    Tissue specificity: Detected in melanocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GRM6: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat
              GABA & Glutamate in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GRM6
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat GRM6
    QuantiTect SYBR Green Assays in human, mouse, rat GRM6
    QuantiFast Probe-based Assays in human, mouse, rat GRM6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRM6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GRM6 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grm61 , 5 glutamate receptor, metabotropic 61, 5 88.04(n)1
    94.61(a)1
      11 (30.93 cM)5
    1080721  NM_173372.21  NP_775548.21 
     508506855 
    lizard
    (Anolis carolinensis)
    Reptilia GRM66
    glutamate receptor, metabotropic 6
    74(a)
    1 ↔ 1
    2(69578857-69645929)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia grm81 glutamate receptor, metabotropic 8 76.09(n)
    78.38(a)
      100489237  XM_002944069.2  XP_002944115.2 
    zebrafish
    (Danio rerio)
    Actinopterygii grm6b1 glutamate receptor, metabotropic 6b 71.46(n)
    77.15(a)
      565450  NM_001080020.1  NP_001073489.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GRM6 gene
    GRM72  GRM42  TAS1R22  GRM82  TAS1R32  GRM22  GRM32  TAS1R12  
    GRM52  GRM12  GPRC6A2  
    9 SIMAP similar genes for GRM6 using alignment to 1 protein entry:     GRM6_HUMAN:
    DKFZp686H1993    GRM8    GRM4    GRM7    GRM2    GRM3
    GRM1    GRM5    CASR

    GRM6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GRM6 (see all 802)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0307564
    Night blindness, congenital stationary, 1B (CSNB1B)4--see VAR_0307562 G S mis40--------
    VAR_0698194
    Night blindness, congenital stationary, 1B (CSNB1B)4--see VAR_0698192 I T mis40--------
    VAR_0698184
    Night blindness, congenital stationary, 1B (CSNB1B)4--see VAR_0698182 G R mis40--------
    VAR_0361954
    A breast cancer sample4--see VAR_0361952 S F mis40--------
    VAR_0698204
    Night blindness, congenital stationary, 1B (CSNB1B)4--see VAR_0698202 C Y mis40--------
    VAR_0698174
    Night blindness, congenital stationary, 1B (CSNB1B)4--see VAR_0698172 P L mis40--------
    VAR_0307574
    Night blindness, congenital stationary, 1B (CSNB1B)4--see VAR_0307572 E K mis40--------
    rs626386251,2
    Cpathogenic1173137254(-) TCAACA/GAGGCC 2 K E mis10--------
    rs626386241,2
    Cpathogenic1173140382(-) CCCTGC/TAGGTG 2 Q * stg10--------
    rs626382141,2
    Cpathogenic1173140643(-) CGGGCC/TGAGAG 2 R * stg11Minor allele frequency- T:0.00NA 4432

    HapMap Linkage Disequilibrium report for GRM6 (178405328 - 178423207 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GRM6:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv364n21CNV Loss19592680
    dgv6389n71CNV Gain21882294
    nsv883221CNV Gain21882294

    Human Gene Mutation Database (HGMD): GRM6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GRM6
    DNA2.0 Custom Variant and Variant Library Synthesis for GRM6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604096   
    OMIM disorders: 257270  
    UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20 diseases for GRM6:    About MalaCards
    congenital stationary night blindness, type 1b    night blindness, congenital stationary , 1b, autosomal recessive    autosomal recessive congenital stationary night blindness    amblyopia
    suppression amblyopia    optic nerve disease    night blindness, congenital stationary , 1d, autosomal recessive    congenital stationary night blindness
    night blindness    blindness    retinal disease    myopia
    retinitis    breast and colorectal cancer    prostate cancer    prostatitis
    multiple myeloma    myeloma    colorectal cancer    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for GRM6:
    Night blindness     Suppression amblyopia     Myopia

    GRM6 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GRM6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    night blindness, congenital stationary 93.3 8 16622103 (1), 19666700 (1), 19862333 (1), 17405131 (1)

    Genetic Association Database (GAD): GRM6
    Human Genome Epidemiology (HuGE) Navigator: GRM6 (8 documents)

    Export disorders for GRM6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GRM6 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with GRM6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6. (PubMed id 9215706)1, 2, 3, 9 Hashimoto T....Nakanishi S. (Eur. J. Neurosci. 1997)
    2. Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. (PubMed id 17405131)1, 2, 9 Zeitz C....Berger W. (Hum. Mutat. 2007)
    3. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. (PubMed id 15781871)1, 2, 9 Dryja T.P.... Rajagopalan A.S. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    4. Sequence variations of GRM6 in patients with high myopia. (PubMed id 19862333)1, 4, 9 Xu X....Zhang Q. (Mol. Vis. 2009)
    5. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. (PubMed id 23714322)1, 2 Bijveld M.M....van Genderen M.M. (Ophthalmology 2013)
    6. Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes. (PubMed id 23452348)1, 2 Devi S.... Setaluri V. (Pigment Cell Melanoma Res. 2013)
    7. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes. (PubMed id 20560679)1, 4 Fonseca F....Torrens M. (amp 2010)
    10. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2916 HGNC: 4598 AceView: GRM6 Ensembl:ENSG00000113262 euGenes: HUgn2916
    ECgene: GRM6 Kegg: 2916 H-InvDB: GRM6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GRM6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GRM6 gene:
    Search GeneIP for patents involving GRM6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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