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Aliases for GRM6 Gene

Aliases for GRM6 Gene

  • Glutamate Metabotropic Receptor 6 2 3 5
  • Glutamate Receptor, Metabotropic 6 2 3
  • GPRC1F 3 4
  • MGLUR6 3 4
  • Metabotropic Glutamate Receptor 6 3
  • CSNB1B 3
  • MGlu6 3

External Ids for GRM6 Gene

Previous GeneCards Identifiers for GRM6 Gene

  • GC05M178429
  • GC05M179301
  • GC05M178505
  • GC05M178324
  • GC05M178392
  • GC05M173132

Summaries for GRM6 Gene

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 Metabotropic Receptor 6) is a Protein Coding gene. Diseases associated with GRM6 include Night Blindness, Congenital Stationary , 1B, Autosomal Recessive and Congenital Stationary Night Blindness. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. 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.

Tocris 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.

Gene Wiki entry for GRM6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRM6 Gene

Genomics for GRM6 Gene

Regulatory Elements for GRM6 Gene

Enhancers for GRM6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F179166 0.8 Ensembl ENCODE 11 -171.0 -171000 1.3 ZBTB10 CTCF MAZ SP2 ZBTB8A REST ZIC2 ZBTB7A RAD21 PATZ1 ADAMTS2 GRM6 PIR31099 GC05M179111
GH05F178839 0.7 ENCODE 10.8 +156.7 156732 0.2 SIX4 CTCF ZNF687 ESRRA DPF2 REST RAD21 GATA3 CTBP1 HSF1 AACSP1 ZNF354B GRM6 CLK4 LOC101928445 COL23A1 GC05P178839 GC05P178846 LOC100129457 PIR56674
GH05F178777 0.2 Ensembl 10.6 +218.2 218188 1.2 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS ZFP2 LOC100130798 ZNF454 LOC105377763 ZNF354C GRM6 ZNF879 AACSP1 LOC101928445 PIR60108
GH05F178667 0.7 Ensembl 10.4 +328.4 328406 0.4 ZNF263 ZBTB33 CLK4 GRM6 VN2R2P LOC102724657
GH05F178668 0.2 Ensembl 10.4 +327.5 327506 0.2 SMARCE1 TBL1XR1 RNF2 NFXL1 ARID1B GATA3 GATA2 ZNF548 HES1 SPI1 ZNF354A ZNF354B ZNF354C CLK4 COL23A1 GRM6 HNRNPAB VN2R2P LOC102724657
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GRM6 on UCSC Golden Path with GeneCards custom track

Genomic Location for GRM6 Gene

Chromosome:
5
Start:
178,978,327 bp from pter
End:
178,996,206 bp from pter
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:
GRM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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.

neXtProt entry for GRM6 Gene

Post-translational modifications for GRM6 Gene

  • Glycosylation at Asn 296, Asn 451, Asn 479, and Asn 567
  • Modification sites at PhosphoSitePlus

Other Protein References for GRM6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GRM6 Gene

Domains & Families for GRM6 Gene

Gene Families for GRM6 Gene

Suggested Antigen Peptide Sequences for GRM6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15303

UniProtKB/Swiss-Prot:

GRM6_HUMAN :
  • Belongs to the G-protein coupled receptor 3 family.
Family:
  • Belongs to the G-protein coupled receptor 3 family.
genes like me logo Genes that share domains with GRM6: view

Function for GRM6 Gene

Molecular function for GRM6 Gene

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
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.

Gene Ontology (GO) - Molecular Function 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 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity TAS 9215706
GO:0005515 protein binding IPI 17405131
genes like me logo Genes that share ontologies with GRM6: view
genes like me logo Genes that share phenotypes with GRM6: view

Human Phenotype Ontology for GRM6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRM6 Gene

MGI Knock Outs for GRM6:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GRM6

Flow Cytometry Products

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRM6 Gene COMPARTMENTS Subcellular localization image for GRM6 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GRM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 17405131
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 17405131
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA,TAS --
genes like me logo Genes that share ontologies with GRM6: view

Pathways & Interactions for GRM6 Gene

genes like me logo Genes that share pathways with GRM6: view

Gene Ontology (GO) - Biological Process for GRM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007196 adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway IEA --
GO:0007216 G-protein coupled glutamate receptor signaling pathway IMP 23452348
GO:0007268 chemical synaptic transmission IEA --
genes like me logo Genes that share ontologies with GRM6: view

No data available for SIGNOR curated interactions for GRM6 Gene

Drugs & Compounds for GRM6 Gene

(116) Drugs for GRM6 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Spaglumic acid Approved Pharma 0
L-AP4 Pharma Agonist Selective group III mGlu agonist 0
CPPG Pharma Very potent group III mGlu antagonist 0
MMPIP hydrochloride Pharma Potent, allosteric mGlu7-selective antagonist 0
MSOP Pharma Antagonist Specific group III mGlu antagonist 0

(4) Additional Compounds for GRM6 Gene - From: IUPHAR and Novoseek

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
Agonist

(5) Tocris Compounds for GRM6 Gene

Compound Action Cas Number
AMN 082 dihydrochloride The first selective mGlu7 agonist 97075-46-2
CPPG Very potent group III mGlu antagonist 183364-82-1
L-AP4 Selective group III mGlu agonist 23052-81-5
MMPIP hydrochloride Potent, allosteric mGlu7-selective antagonist 479077-02-6
MSOP Specific group III mGlu antagonist 66515-29-5

(101) ApexBio Compounds for GRM6 Gene

Compound Action Cas Number
(±)-LY 395756 852679-66-4
(±)-trans-ACPD 67684-64-4
(1S,3R)-ACPD 111900-32-4
(R)-3,4-DCPG 201730-10-1
(R)-3-Carboxy-4-hydroxyphenylglycine 13861-03-5
(RS)-3,4-DCPG 176796-64-8
(RS)-3,5-DHPG 19641-83-9
(RS)-3-Hydroxyphenylglycine 31932-87-3
(RS)-4-Carboxy-3-hydroxyphenylglycine 134052-66-7
(RS)-4-Carboxyphenylglycine 7292-81-1
(RS)-APICA 170847-18-4
(RS)-MCPG 146669-29-6
(RS)-MCPG disodium salt 1303994-09-3
(RS)-PPG 120667-15-4
(S)-3,4-DCPG 201730-11-2
(S)-3,5-DHPG 162870-29-3
(S)-3-Carboxy-4-hydroxyphenylglycine 55136-48-6
(S)-3-Hydroxyphenylglycine 71301-82-1
(S)-4-Carboxy-3-hydroxyphenylglycine 85148-82-9
(S)-4-Carboxyphenylglycine 134052-73-6
(S)-HexylHIBO 334887-48-8
(S)-MCPG 150145-89-4
2,4-Dihydroxyphenylacetyl-L-asparagine 111872-98-1
3-MATIDA 518357-51-2
ACDPP hydrochloride 37804-11-8
ACPT-I 194918-76-8
AIDA 168560-79-0
BINA 866823-73-6
CBiPES hydrochloride 856702-40-4
CDPPB 781652-57-1
CHPG Sodium salt 1303993-73-8
Cinnabarinic acid 606-59-7
CPCCOEt 179067-99-3
CPPG 183364-82-1
D-AP4 78739-01-2
DCB 6971-97-7
DCG IV 147782-19-2
Desmethyl-YM 298198 1177767-57-5
DFB 15332-10-2
DL-AP4 20263-07-4
DL-AP4 Sodium salt 1263093-79-3
DMeOB 40252-74-2
E4CPG 170846-89-6
EGLU 170984-72-2
Fenobam 57653-26-6
HexylHIBO 334887-43-3
JNJ 16259685 409345-29-5
Kynurenic acid 492-27-3
Kynurenic acid sodium salt 2439-02-3
L-AP4 23052-81-5
L-AP6 78944-89-5
L-BMAA hydrochloride 16012-55-8
L-CCG-l 117857-93-9
LY 2389575 hydrochloride 885104-09-6
LY 354740 176199-48-7
LY 379268 disodium salt
LY 456236 hydrochloride 338736-46-2
LY 487379 hydrochloride 353229-59-1
MAP4 157381-42-5
MFZ 10-7 1224431-15-5
ML 289 1382481-79-9
ML 337 1443118-44-2
MMPIP hydrochloride 479077-02-6
MNI 137 946619-21-2
MNI-caged-L-glutamate 295325-62-1
MSOP 66515-29-5
MSPG 169209-64-7
MTPG 169209-66-9
N-Acetylglycyl-D-glutamic acid 135701-69-8
NPEC-caged-(1S,3R)-ACPD 1315379-60-2
NPEC-caged-(S)-3,4-DCPG 1257323-85-5
NPEC-caged-LY 379268
NPS 2390 226878-01-9
O-Phospho-L-serine 407-41-0
PHCCC 179068-02-1
Ro 01-6128 302841-86-7
Ro 64-5229 246852-46-0
Ro 67-4853 302841-89-0
Ro 67-7476 298690-60-5
RuBi-Glutamate
Salsolinol-1-carboxylic acid 57256-34-5
SIB 1757 31993-01-8
SIB 1893 6266-99-5
Spaglumic acid 3106-85-2
S-Sulfo-L-cysteine sodium salt 7381-67-1
TC-N 22A 1314140-00-5
TCN 238 125404-04-8
UBP1112 339526-74-8
VU 0155041 1093757-42-6
VU 0155041 sodium salt 1259372-69-4
VU 0285683 327056-22-4
VU 0360172 hydrochloride 1309976-62-2
VU 0360223 1274859-33-4
VU 1545 890764-63-3
VU 29 890764-36-0
Xanthurenic acid 59-00-7
YM 202074 299900-84-8
YM 230888 446257-23-4
YM 298198 hydrochloride 1216398-09-2
Z-Cyclopentyl-AP4 103439-17-4
γDGG 6729-55-1
genes like me logo Genes that share compounds with GRM6: view

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 :

Unigene Clusters for GRM6 Gene

Glutamate receptor, metabotropic 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GRM6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRM6 Gene

No ASD Table

Relevant External Links for GRM6 Gene

GeneLoc Exon Structure for
GRM6
ECgene alternative splicing isoforms for
GRM6

Expression for GRM6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRM6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRM6 Gene

This gene is overexpressed in Pituitary (x5.1) and Testis (x4.3).

Protein differential expression in normal tissues from HIPED for GRM6 Gene

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, PaxDb, and MOPED for GRM6 Gene



Protein tissue co-expression partners for GRM6 Gene

NURSA nuclear receptor signaling pathways regulating expression of GRM6 Gene:

GRM6

SOURCE GeneReport for Unigene cluster for GRM6 Gene:

Hs.248131

mRNA Expression by UniProt/SwissProt for GRM6 Gene:

O15303-GRM6_HUMAN
Tissue specificity: Detected in melanocytes.
genes like me logo Genes that share expression patterns with GRM6: view

Primer Products

Orthologs for GRM6 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRM6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRM6 34 35
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia GRM6 34 35
  • 91.1 (n)
cow
(Bos Taurus)
Mammalia GRM6 34 35
  • 90.45 (n)
rat
(Rattus norvegicus)
Mammalia Grm6 34
  • 88.2 (n)
mouse
(Mus musculus)
Mammalia Grm6 34 16 35
  • 88.04 (n)
oppossum
(Monodelphis domestica)
Mammalia GRM6 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRM6 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRM6 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grm8 34
  • 76.09 (n)
zebrafish
(Danio rerio)
Actinopterygii grm6b 34 35
  • 71.46 (n)
grm6a 35
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Glu-RA 36
  • 44 (a)
CG30361 36
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea mgl-1 36
  • 37 (a)
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)

Paralogs for GRM6 Gene

Paralogs for GRM6 Gene

(9) SIMAP similar genes for GRM6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GRM6: view

Variants for GRM6 Gene

Sequence variations from dbSNP and Humsavar for GRM6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121434304 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270], other 178,989,075(-) TGTGA(C/T)TGATG reference, missense
rs62638197 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270], Pathogenic 178,994,808(-) GTTCC(C/T)GGTGC reference, missense
rs62638198 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270], untested 178,994,773(-) CGTGC(C/G/T)GGCAG reference, missense
rs62638202 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270], Pathogenic 178,994,497(-) TCGTG(A/G)GCGCC reference, missense
rs62638208 Night blindness, congenital stationary, 1B (CSNB1B) [MIM:257270], Pathogenic 178,986,689(-) GCCCT(A/G)CGGGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GRM6 Gene

Variant ID Type Subtype PubMed ID
dgv364n21 CNV loss 19592680
nsv1119057 CNV deletion 24896259
nsv1120062 OTHER inversion 24896259
nsv600489 CNV loss 21841781
nsv600490 CNV loss 21841781
nsv950734 CNV deletion 24416366

Variation tolerance for GRM6 Gene

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)

Relevant External Links for GRM6 Gene

Human Gene Mutation Database (HGMD)
GRM6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRM6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRM6 Gene

Disorders for GRM6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GRM6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
night blindness, congenital stationary , 1b, autosomal recessive
  • congenital stationary night blindness, type 1b
congenital stationary night blindness
  • congenital essential nyctalopia
suppression amblyopia
  • strabismic amblyopia
night blindness
autosomal recessive congenital stationary night blindness
  • autosomal recessive complete congenital stationary night blindness
- elite association - COSMIC cancer census association via MalaCards
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.

Relevant External Links for GRM6

Genetic Association Database (GAD)
GRM6
Human Genome Epidemiology (HuGE) Navigator
GRM6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRM6
genes like me logo Genes that share disorders with GRM6: view

No data available for Genatlas for GRM6 Gene

Publications for GRM6 Gene

  1. The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6. (PMID: 9215706) Hashimoto T. … Nakanishi S. (Eur. J. Neurosci. 1997) 2 3 4 22 64
  2. Sequence variations of GRM6 in patients with high myopia. (PMID: 19862333) Xu X. … Zhang Q. (Mol. Vis. 2009) 3 22 46 64
  3. 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. (Hum. Mutat. 2007) 3 4 22 64
  4. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. (PMID: 15781871) Dryja T.P. … Rajagopalan A.S. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64
  5. 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 Res. 2013) 3 4 64

Products for GRM6 Gene

Sources for GRM6 Gene

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