Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2916
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate metabotropic receptor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRM6
Synonyms (NCBI Gene) Gene synonyms aliases
CSNB1B, GPRC1F, MGLUR6, mGlu6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CSNB1B
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez 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 perturbe
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs62638197 G>A Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs62638202 C>T Not-provided, pathogenic Coding sequence variant, missense variant
rs62638208 C>T Not-provided, pathogenic Coding sequence variant, missense variant
rs62638214 G>A Pathogenic Coding sequence variant, stop gained
rs62638619 C>A,T Benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT677772 hsa-miR-582-3p HITS-CLIP 23824327
MIRT677771 hsa-miR-4438 HITS-CLIP 23824327
MIRT677770 hsa-miR-6504-3p HITS-CLIP 23824327
MIRT677769 hsa-miR-6814-5p HITS-CLIP 23824327
MIRT677768 hsa-miR-4722-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 17405131
GO:0001640 Function Adenylate cyclase inhibiting G protein-coupled glutamate receptor activity IBA 21873635
GO:0004930 Function G protein-coupled receptor activity TAS 9215706
GO:0005515 Function Protein binding IPI 17405131
GO:0005789 Component Endoplasmic reticulum membrane IDA 17405131
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604096 4598 ENSG00000113262
Protein
UniProt ID O15303
Protein name Metabotropic glutamate receptor 6 (mGluR6)
Protein 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. Si
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01094 ANF_receptor 67 479 Receptor family ligand binding region Family
PF07562 NCD3G 514 564 Nine Cysteines Domain of family 3 GPCR Family
PF00003 7tm_3 597 842 7 transmembrane sweet-taste receptor of 3 GCPR Family
Tissue specificity TISSUE SPECIFICITY: Detected in melanocytes. {ECO:0000269|PubMed:23452348}.
Sequence
MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLFPVHARGAAGRACGQL
KKEQGVHRLEAMLYALDRVNADPELLPGVRLGARLLDTCSRDTYALEQALSFVQALIRGR
GDGDEVGVRCPGGVPPLRPAPPERVVAVVGASASSVSIMVANVLRLFAIPQISYASTAPE
LSDSTRYDFFSRVVPPDSYQAQAMVDIVRALGWNYVSTLASEGNYGESGVEAFVQISREA
GGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFANEDDIRRVLEAARQANLTGH
FLWVGSDSWGAKTSPILSLEDVAVGAITILPKRASIDGFDQYFMTRSLENNRRNIWFAEF
WEENFNCKLTSSGTQSDDSTRKCTGEERIGRDSTYEQEGKVQFVIDAVYAIAHALHSMHQ
ALCPGHTGLCPAMEPTDGRMLLQYIRAVRFNGSAGTPVMFNENGDAPGRYDIFQYQATN
G
SASSGGYQAVGQWAETLRLDVEALQWSGDPHEVPSSLCSLPCGPGERKKMVKGVPCCWHC
EACDGYRFQVDEFTCEACPGDMRP
TPNHTGCRPTPVVRLSWSSPWAAPPLLLAVLGIVAT
TTVVATFVRYNNTPIVRASGRELSYVLLTGIFLIYAITFLMVAEPGAAVCAARRLFLGLG
TTLSYSALLTKTNRIYRIFEQGKRSVTPPPFISPTSQLVITFSLTSLQVVGMIAWLGARP
PHSVIDYEEQRTVDPEQARGVLKCDMSDLSLIGCLGYSLLLMVTCTVYAIKARGVPETFN
EAKPIGFTMYTTCIIWLAFVPIFFGTAQSAEKIYIQTTTLTVSLSLSASVSLGMLYVPKT
YV
ILFHPEQNVQKRKRSLKATSTVAAPPKGEDAEAHK
Sequence length 877
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phospholipase D signaling pathway
Neuroactive ligand-receptor interaction
Glutamatergic synapse
  G alpha (i) signalling events
Class C/3 (Metabotropic glutamate/pheromone receptors)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Congenital stationary night blindness Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911
View all (100 more)
Leber congenital amaurosis Leber Congenital Amaurosis rs386834252, rs386834253, rs121918165, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs80044281, rs386834241, rs75895925, rs386834243, rs750962965
View all (532 more)
30718709
Myopia Myopia, Severe myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
Unknown
Disease term Disease name Evidence References Source
Congenital stationary night blindness, x-linked X-Linked Csnb ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Amblyopia Associate 22008250
Astigmatism Associate 22008250
Autism Spectrum Disorder Associate 28281572
Bipolar Disorder Associate 22008250
Blindness Associate 15781871
Carcinoma Renal Cell Associate 22610075
Hereditary Sensory and Autonomic Neuropathies Associate 32807182
Macular Degeneration Associate 22008250
Myopia Associate 19862333, 27034204, 37191617
Neoplasms Associate 20061814