Human Gene GRM6 (ENST00000517717.3_8) from GENCODE V47lift37
  Description: glutamate metabotropic receptor 6 (from RefSeq NM_000843.4)
Gencode Transcript: ENST00000517717.3_8
Gencode Gene: ENSG00000113262.16_10
Transcript (Including UTRs)
   Position: hg19 chr5:178,405,328-178,422,321 Size: 16,994 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr5:178,408,658-178,421,945 Size: 13,288 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:178,405,328-178,422,321)mRNA (may differ from genome)Protein (877 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GRM6_HUMAN
DESCRIPTION: RecName: Full=Metabotropic glutamate receptor 6; Short=mGluR6; Flags: Precursor;
FUNCTION: Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
DISEASE: 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.
SIMILARITY: Belongs to the G-protein coupled receptor 3 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GRM6
Diseases sorted by gene-association score: night blindness, congenital stationary , 1b, autosomal recessive* (1318), congenital stationary night blindness* (566), suppression amblyopia (16), night blindness (14), autosomal recessive congenital stationary night blindness (11), hereditary night blindness (6), retinal disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.80 RPKM in Testis
Total median expression: 6.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.1061-0.248 Picture PostScript Text
3' UTR -1277.703330-0.384 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001828 - ANF_lig-bd_rcpt
IPR000337 - GPCR_3
IPR011500 - GPCR_3_9-Cys_dom
IPR017978 - GPCR_3_C
IPR017979 - GPCR_3_CS
IPR000162 - GPCR_3_mtglu_rcpt
IPR000112 - GPCR_3_mtglu_rcpt_6

Pfam Domains:
PF00003 - 7 transmembrane sweet-taste receptor of 3 GCPR
PF01094 - Receptor family ligand binding region
PF07562 - Nine Cysteines Domain of family 3 GPCR
PF13458 - Periplasmic binding protein

SCOP Domains:
53822 - Periplasmic binding protein-like I
57586 - TNF receptor-like

ModBase Predicted Comparative 3D Structure on O15303
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001640 adenylate cyclase inhibiting G-protein coupled glutamate receptor activity
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0005515 protein binding
GO:0008066 glutamate receptor activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007196 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway
GO:0007216 G-protein coupled glutamate receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0007601 visual perception
GO:0007626 locomotory behavior
GO:0009584 detection of visible light
GO:0050896 response to stimulus
GO:0050908 detection of light stimulus involved in visual perception
GO:0050953 sensory perception of light stimulus
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0060041 retina development in camera-type eye
GO:0090280 positive regulation of calcium ion import

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0035841 new growing cell tip
GO:0042734 presynaptic membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  JD274604 - Sequence 255628 from Patent EP1572962.
BX647168 - Homo sapiens mRNA; cDNA DKFZp686H1993 (from clone DKFZp686H1993).
JD312593 - Sequence 293617 from Patent EP1572962.
JD279933 - Sequence 260957 from Patent EP1572962.
JD357245 - Sequence 338269 from Patent EP1572962.
JD264787 - Sequence 245811 from Patent EP1572962.
JD227489 - Sequence 208513 from Patent EP1572962.
JD360592 - Sequence 341616 from Patent EP1572962.
JD316093 - Sequence 297117 from Patent EP1572962.
JD504256 - Sequence 485280 from Patent EP1572962.
JD415040 - Sequence 396064 from Patent EP1572962.
JD312489 - Sequence 293513 from Patent EP1572962.
JD379799 - Sequence 360823 from Patent EP1572962.
JD516465 - Sequence 497489 from Patent EP1572962.
JD120619 - Sequence 101643 from Patent EP1572962.
JD151027 - Sequence 132051 from Patent EP1572962.
JD480529 - Sequence 461553 from Patent EP1572962.
JD342323 - Sequence 323347 from Patent EP1572962.
JD457550 - Sequence 438574 from Patent EP1572962.
JD293480 - Sequence 274504 from Patent EP1572962.
JD457549 - Sequence 438573 from Patent EP1572962.
JD293479 - Sequence 274503 from Patent EP1572962.
JD222205 - Sequence 203229 from Patent EP1572962.
JD070584 - Sequence 51608 from Patent EP1572962.
JD425872 - Sequence 406896 from Patent EP1572962.
JD323125 - Sequence 304149 from Patent EP1572962.
JD096636 - Sequence 77660 from Patent EP1572962.
JD512331 - Sequence 493355 from Patent EP1572962.
JD412596 - Sequence 393620 from Patent EP1572962.
JD197714 - Sequence 178738 from Patent EP1572962.
JD290804 - Sequence 271828 from Patent EP1572962.
JD288823 - Sequence 269847 from Patent EP1572962.
JD122814 - Sequence 103838 from Patent EP1572962.
JD530684 - Sequence 511708 from Patent EP1572962.
JD047206 - Sequence 28230 from Patent EP1572962.
JD037637 - Sequence 18661 from Patent EP1572962.
JD289681 - Sequence 270705 from Patent EP1572962.
JD467640 - Sequence 448664 from Patent EP1572962.
JD565289 - Sequence 546313 from Patent EP1572962.
JD465404 - Sequence 446428 from Patent EP1572962.
JD420916 - Sequence 401940 from Patent EP1572962.
JD298847 - Sequence 279871 from Patent EP1572962.
JD188566 - Sequence 169590 from Patent EP1572962.
JD296551 - Sequence 277575 from Patent EP1572962.
JD516314 - Sequence 497338 from Patent EP1572962.
JD038734 - Sequence 19758 from Patent EP1572962.
JD236592 - Sequence 217616 from Patent EP1572962.
JD552938 - Sequence 533962 from Patent EP1572962.
JD299798 - Sequence 280822 from Patent EP1572962.
JD426117 - Sequence 407141 from Patent EP1572962.
JD118986 - Sequence 100010 from Patent EP1572962.
JD060621 - Sequence 41645 from Patent EP1572962.
JD552057 - Sequence 533081 from Patent EP1572962.
JD090790 - Sequence 71814 from Patent EP1572962.
JD238503 - Sequence 219527 from Patent EP1572962.
JD238501 - Sequence 219525 from Patent EP1572962.
JD238502 - Sequence 219526 from Patent EP1572962.
JD058299 - Sequence 39323 from Patent EP1572962.
JD220281 - Sequence 201305 from Patent EP1572962.
JD101054 - Sequence 82078 from Patent EP1572962.
JD544979 - Sequence 526003 from Patent EP1572962.
JD223277 - Sequence 204301 from Patent EP1572962.
JD135937 - Sequence 116961 from Patent EP1572962.
JD194747 - Sequence 175771 from Patent EP1572962.
JD279192 - Sequence 260216 from Patent EP1572962.
JD135936 - Sequence 116960 from Patent EP1572962.
JD194746 - Sequence 175770 from Patent EP1572962.
JD537344 - Sequence 518368 from Patent EP1572962.
JD281694 - Sequence 262718 from Patent EP1572962.
JD384701 - Sequence 365725 from Patent EP1572962.
JD209032 - Sequence 190056 from Patent EP1572962.
JD159105 - Sequence 140129 from Patent EP1572962.
JD558327 - Sequence 539351 from Patent EP1572962.
JD522354 - Sequence 503378 from Patent EP1572962.
JD564403 - Sequence 545427 from Patent EP1572962.
JD556420 - Sequence 537444 from Patent EP1572962.
JD141821 - Sequence 122845 from Patent EP1572962.
JD446499 - Sequence 427523 from Patent EP1572962.
JD421981 - Sequence 403005 from Patent EP1572962.
JD127935 - Sequence 108959 from Patent EP1572962.
JD551256 - Sequence 532280 from Patent EP1572962.
JD467639 - Sequence 448663 from Patent EP1572962.
JD372112 - Sequence 353136 from Patent EP1572962.
JD473296 - Sequence 454320 from Patent EP1572962.
JD386400 - Sequence 367424 from Patent EP1572962.
JD474012 - Sequence 455036 from Patent EP1572962.
JD544744 - Sequence 525768 from Patent EP1572962.
JD471055 - Sequence 452079 from Patent EP1572962.
JD109335 - Sequence 90359 from Patent EP1572962.
JD375035 - Sequence 356059 from Patent EP1572962.
JD066886 - Sequence 47910 from Patent EP1572962.
JD279811 - Sequence 260835 from Patent EP1572962.
JD329008 - Sequence 310032 from Patent EP1572962.
JD227888 - Sequence 208912 from Patent EP1572962.
JD431930 - Sequence 412954 from Patent EP1572962.
BC172277 - Synthetic construct Homo sapiens clone IMAGE:100068971, MGC:198982 glutamate receptor, metabotropic 6 (GRM6) mRNA, encodes complete protein.
AJ245871 - Homo sapiens mRNA for putative truncated metabotropic glutamatereceptor 6 form a, partial (tr-mGluR6 a).
AJ245872 - Homo sapiens mRNA for putative truncated metabotropic glutamatereceptor 6 form b, partial (tr-mGluR6 b).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O15303 (Reactome details) participates in the following event(s):

R-HSA-373075 Metabotropic glutamate receptors bind glutamate
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-420499 Class C/3 (Metabotropic glutamate/pheromone receptors)
R-HSA-418594 G alpha (i) signalling events
R-HSA-500792 GPCR ligand binding
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000517717.1, ENST00000517717.2, GPRC1F, GRM6_HUMAN, MGLUR6, NM_000843, O15303, uc323pws.1, uc323pws.2
UCSC ID: ENST00000517717.3_8
RefSeq Accession: NM_000843.4
Protein: O15303 (aka GRM6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.