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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GRM6 Gene

protein-coding   GIFtS: 63
GCID: GC05M178392

glutamate receptor, metabotropic 6
 Explore 13 diseases affiliated with
GRM6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GRM6    

Aliases
for GRM6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Glutamate Receptor, Metabotropic 61 2     CSNB1B2 5
MGLUR61 2 3 5     Metabotropic Glutamate Receptor 62
GPRC1F1 2 3     MGluR61
MGlu61     

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


Summaries
for GRM6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GRM6:
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)

UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303
Function: Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate
cyclase activity

Gene Wiki entry for GRM6 (Metabotropic glutamate receptor 6)


Genomic Views
for GRM6 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
Regulatory elements:
   SABiosciences 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 plasmid: GRM6 promoter sequence
   Search SABiosciences Chromatin IP Primers for GRM6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for GRM6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303 (See protein sequence)
Recommended Name: Metabotropic glutamate receptor 6 precursor  
Size: 877 amino acids; 95468 Da
Subcellular location: Cell membrane; Multi-pass membrane protein

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15303

    • GRM6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000834.2  
    ENSEMBL proteins: 
     ENSP00000430767   ENSP00000231188  
    Reactome Protein details: O15303
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant GRM6 Protein
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    OriGene Protein Over-expression Lysate: GRM6
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    Novus Biologicals GRM6 Proteins
    Novus Biologicals GRM6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GRM6

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9215706
    GO:0035841new growing cell tip IEA--


    GRM6 for ontologies           About GeneDecksing



    GRM6 Antibody Products: 
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    Uscn Antibodies for GRM6
    ThermoFisher Antibody for GRM6

    Assay Products for GRM6: 
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    Uscn ELISAs and CLIAs for GRM6

    Protein Domains /
    Families
    for GRM6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GRM6 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR011500 GPCR_3_9-Cys_dom
     IPR000337 GPCR_3
     IPR017979 GPCR_3_CS
     IPR000112 GPCR_3_mtglu_rcpt_6
     IPR017978 GPCR_3_C

    Graphical View of Domain Structure for InterPro Entry O15303

    ProtoNet protein and cluster: O15303

    4 Blocks protein families:
    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


    Function
    for GRM6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303
    Function: Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate
    cyclase activity

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GRM6
    6 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GRM6 (see all 7)
    OriGene shRNA RFP: GRM6
    OriGene siRNA: GRM6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GRM6

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GRM6

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GRM6 (see all 3)
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    Search LifeMap BioReagents cell lines for GRM6

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

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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:0008066glutamate receptor activity TAS9215706


    GRM6 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Grm6tm1Nak for GRM6
         3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Grm6):
     behavior/neurological  nervous system  vision/eye 

    GRM6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GRM6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Class C/3 (Metabotropic glutamate/pheromone receptors)
    		Class C/3 (Metabotropic glutamate/pheromone receptors)1.00
    		Synaptic Neurotransmission: Glutamatergic Excitation0.33
    		GPCRs, Class C Metabotropic glutamate, pheromone0.58
    2Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    3Class A/1 (Rhodopsin-like receptors)
    		GPCR ligand binding0.75
    		Neuroactive ligand-receptor interaction0.38
    4Glutamic acid signaling
    		Glutamic acid signaling1.00
    5Signaling in Gap Junctions
    		Signaling in Gap Junctions1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for GRM6
        Glutamic acid signaling

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

    3 Downloadable PowerPoint Slides of QIAGEN 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

    4        Reactome Pathways for GRM6
        Signal Transduction
    Class C/3 (Metabotropic glutamate/pheromone receptors)
    Signaling by GPCR
    GPCR ligand binding


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


    GRM6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GRM6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/11 Interacting proteins for GRM6 (O153033 ENSP000002311884) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNAO1P094713, ENSP000002624934I2D: score=1 STRING: ENSP00000262493
    GRIP1Q9Y3R03I2D: score=2 
    SDCBPO005603I2D: score=2 
    FOXO3O435243I2D: score=1 
    PRKAG1P546193I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007196adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway ----
    GO:0007216G-protein coupled glutamate receptor signaling pathway TAS9215706
    GO:0007268synaptic transmission IEA--
    GO:0007601visual perception IEA--
    GO:0007626locomotory behavior IEA--


    GRM6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GRM6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GRM6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for GRM6

    Browse Tocris compounds for GRM6
    4 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about GRM6 

    Transcripts
    for GRM6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GRM6
    6 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GRM6 (see all 7)
    OriGene shRNA RFP: GRM6
    OriGene siRNA: GRM6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GRM6
    Clone
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    GenScript: all cDNA clones in your preferred vector: GRM6 (NM_000843)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GRM6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GRM6

    Additional cDNA sequence: 

    AJ245871.1 AJ245872.1 BX647168.1 

    1 DOTS entry:

    DT.91701632 

    8 AceView cDNA sequences:

    BM681239 NM_000843 BM665594 BX647168 AJ245872 AJ245871 BM726590 W25882 

    GeneLoc Exon Structure


    Expression
    for GRM6 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GRM6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTACACAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GRM6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType5 On Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType6 On Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType7 On Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType8 On Cone Bipolar CellsBipolar, Retina
    EyeInner Nuclear LayerType9 On Cone Bipolar CellsBipolar, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GRM6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GRM6

    SOURCE GeneReport for Unigene cluster: Hs.248131
        SABiosciences Expression via Pathway-Focused 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
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    QIAGEN 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
    for GRM6 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for GRM6 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Grm61 , 5 glutamate receptor, metabotropic 61, 5 87.85(n)1
    94.23(a)1    		   11 (30.93 cM)5
    1080721  NM_173372.21  NP_775548.21 
     508506855 
    lizard
    (Anolis carolinensis)    		 Reptilia GRM66
    		 --
    		 73(a)
    		 1 ↔ 1
    		 2(69583395-69617160)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5684841 glutamate receptor, metabotropic 73.16(n)
    76.15(a)    		   568484  NM_001123292.1  NP_001116764.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Glu-RA3 metabotropic glutamate receptor signaling
    pathway more    		 44(a)
    (best of 2)    		     --
    worm
    (Caenorhabditis elegans)    		 Secernentea mgl-13 metatrophic glutamate receptor 37(a)   X(10003865-10009638)   --


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

    Paralogs
    for GRM6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GRM6 gene
    GRM72  GRM42  GRM82  GRM22  GRM52  GRM32  GRM12  
    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



    Genomic Variants
    for GRM6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/645 NCBI SNPs in GRM6 are shown (see all 645)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs626386251,2
    		Cpathogenic173137254(-) TCAACA/GAGGCC 2 K E mis10--------
    rs626386241,2
    		Cpathogenic173140382(-) CCCTGC/TAGGTG 2 Q * stg10--------
    rs626382141,2
    		Cpathogenic173140643(-) CGGGCC/TGAGAG 2 R * stg11Minor allele frequency- T:0.00NA 4432
    rs626382081,2
    		Cpathogenic173140939(-) GCCCTA/GCGGGC 2 Y C mis10--------
    rs1214343041,2
    		Cpathogenic173143325(-) TGTGAT/CTGATG 2 /T /I mis11Minor allele frequency- C:0.00NA 4538
    rs626382021,2
    		Cpathogenic173148749(-) TCGTGA/GGCGCC 2 S G mis10--------
    rs626381971,2
    		Cpathogenic173149060(-) GTTCCC/TGGTGC 2 P L mis10--------
    rs170788741,2
    		C,F,H,untested173137175(-) CACTGC/TCCAGT 2 A V mis1 ese310Minor allele frequency- T:0.07EU NS EA NA WA 6691
    rs767594301,2
    		F,--173132201(+) CTGGTC/GAGTTT 1 -- ds50011Minor allele frequency- G:0.05NA 120
    rs28563581,2
    		H--173132218(-) AAGGCT/CCTGAT 1 -- ds50014Minor allele frequency- C:0.00NS EA 420

    HapMap Linkage Disequilibrium report for GRM6 (178405328 - 178423207 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for GRM6
         2 CNVs: 51651 51652
    Human Gene Mutation Database (HGMD): GRM6

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    Disorders / Diseases
    for GRM6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GRM6 for disorders           About GeneDecksing

    OMIM gene information: 604096   
    OMIM disorders: 257270  
    UniProtKB/Swiss-Prot: GRM6_HUMAN, O15303
  • Defects in GRM6 are the cause of congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]. This
    • disorder consits of a previously unrecognized, autosomal recessive form of congenital night blindness 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

    13 diseases for GRM6:    About MalaCards
    night blindness, congenital stationary, type 1    congenital stationary night blindness    night blindness    suppression amblyopia
    blindness    amblyopia    myopia    retinal disease
    retinitis    prostate cancer    prostatitis    neuronitis
    congenital stationary night blindness, type 1b

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

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: GRM6 (8 documents)

    Export disorders for GRM6 gene to outside databases

    Publications
    for GRM6 gene

    (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)
    About This Section

    PubMed articles for GRM6 gene, integrated from 9 sources (see all 51):
    (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. (1997)
    2. 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. (2005)
    3. 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, 9 Zeitz C....Berger W. (2007)
    4. Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. (PubMed id 19666700)1, 9 Beqollari D....Kammermeier P.J. (2009)
    5. Identification of novel alternatively-spliced mRNA isoforms of metabotropic glutamate receptor 6 gene in rat and human retina. (PubMed id 11179672)1, 9 Valerio A.... Barlati S. (2001)
    6. Sequence variations of GRM6 in patients with high myo pia. (PubMed id 19862333)1, 9 Xu X....Zhang Q. (2009)
    7. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. (PubMed id 16249515)1, 9 Zeitz C....Berger W. (2005)
    8. Mutation screening of TRPM1, GRM6, NYX and CACNA1F gen es in patients with congenital stationary night blindness. (PubMed id 22735794)1 Wang Q....Zhang Q. (2012)
    9. A phenotypic study of congenital stationary night blin dness (CSNB) associated with mutations in the GRM6 gene. (PubMed id 22008250)1 Sergouniotis P.I....Webster A.R. (2012)
    10. Assessing retinal structure in complete congenital sta tionary night blindness and Oguchi disease. (PubMed id 22959359)1 Godara P....Carroll J. (2012)

    External Searches for GRM6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing GRM6 gene

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

    Other Databases showing GRM6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GRM6 gene

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

    Intellectual Property
    for GRM6 gene

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

    GeneCards and IP:
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