Property Summary

NCBI Gene PubMed Count 21
Grant Count 106
R01 Count 81
Funding $11,602,557.73
PubMed Score 88.96
PubTator Score 22.76

Knowledge Summary

Patent (5,257)

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 1.100 0.001
psoriasis -1.700 0.000

Synonym

Accession O15303 mGluR6
Symbols mGlu6
CSNB1B
GPRC1F
MGLUR6

Gene

PANTHER Protein Class (2)

  TechDev Info (1)

MLP Assay (3)

AID Type Active / Inconclusive / Inactive Description
2191 confirmatory 2 / 0 / 0 Modulation of the Metabotropic Glutamate Receptor mGluR4: Selectivity at mGluR6
588730 other 0 / 0 / 2 hmGluR6_Thallium_Fold_Shift (GIRK)
623891 other 1 / 0 / 0 Chemical Optimization of Advanced mGlu4 Lead Candidates (human_mGlu6_Selectivity)

Gene RIF (18)

PMID Text
26628857 Two mutations in GRM6 gene have been identified in two consanguineous Pakistani families with congenital stationary night blindness.
23714322 We found 5 different mutations in GRM6, in congenital stationary night blindness.
23452348 These data suggest differences in coupling of TRPM1 function to mGluR6 signaling explain different cellular responses to glutamate in the retina and the skin.
22959359 The selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar or ganglion cell numbers or altered synaptic structure in the inner retina.
22735794 The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB).
22008250 The phenotype associated with GRM6 mutation is variable in terms of presentation, refractive error, visual acuity and macular function. ERGs are electronegative and suggest ON-pathway dysfunction.
20801516 Observational study of genetic testing. (HuGE Navigator)
20560679 A positive association was observed between response to methadone and two variants in the genes MYOCD and GRM6.
20560679 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
More...

AA Sequence

MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLFPVHARGAAGRACGQLKKEQGVHRLE      1 - 70
AMLYALDRVNADPELLPGVRLGARLLDTCSRDTYALEQALSFVQALIRGRGDGDEVGVRCPGGVPPLRPA     71 - 140
PPERVVAVVGASASSVSIMVANVLRLFAIPQISYASTAPELSDSTRYDFFSRVVPPDSYQAQAMVDIVRA    141 - 210
LGWNYVSTLASEGNYGESGVEAFVQISREAGGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFA    211 - 280
NEDDIRRVLEAARQANLTGHFLWVGSDSWGAKTSPILSLEDVAVGAITILPKRASIDGFDQYFMTRSLEN    281 - 350
NRRNIWFAEFWEENFNCKLTSSGTQSDDSTRKCTGEERIGRDSTYEQEGKVQFVIDAVYAIAHALHSMHQ    351 - 420
ALCPGHTGLCPAMEPTDGRMLLQYIRAVRFNGSAGTPVMFNENGDAPGRYDIFQYQATNGSASSGGYQAV    421 - 490
GQWAETLRLDVEALQWSGDPHEVPSSLCSLPCGPGERKKMVKGVPCCWHCEACDGYRFQVDEFTCEACPG    491 - 560
DMRPTPNHTGCRPTPVVRLSWSSPWAAPPLLLAVLGIVATTTVVATFVRYNNTPIVRASGRELSYVLLTG    561 - 630
IFLIYAITFLMVAEPGAAVCAARRLFLGLGTTLSYSALLTKTNRIYRIFEQGKRSVTPPPFISPTSQLVI    631 - 700
TFSLTSLQVVGMIAWLGARPPHSVIDYEEQRTVDPEQARGVLKCDMSDLSLIGCLGYSLLLMVTCTVYAI    701 - 770
KARGVPETFNEAKPIGFTMYTTCIIWLAFVPIFFGTAQSAEKIYIQTTTLTVSLSLSASVSLGMLYVPKT    771 - 840
YVILFHPEQNVQKRKRSLKATSTVAAPPKGEDAEAHK                                     841 - 877
//

Text Mined References (23)

PMID Year Title
26628857 2015 Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
23714322 2013 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
23452348 2013 Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes.
23449627 2013 Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
22959359 2012 Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
22735794 2012 Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
22008250 2012 A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20560679 2010 Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
More...