Gene Gene information from NCBI Gene database.
Entrez ID 2916
Gene name Glutamate metabotropic receptor 6
Gene symbol GRM6
Synonyms (NCBI Gene)
CSNB1BGPRC1FMGLUR6mGlu6
Chromosome 5
Chromosome location 5q35.3
Summary 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.
13
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.
347
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 17405131
GO:0000139 Component Golgi membrane IEA
GO:0001640 Function Adenylate cyclase inhibiting G protein-coupled glutamate receptor activity IBA
GO:0001640 Function Adenylate cyclase inhibiting G protein-coupled glutamate receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604096 4598 ENSG00000113262
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital stationary night blindness Likely pathogenic; Pathogenic rs62638197, rs781463257, rs777168556, rs769355168 RCV000504939
RCV000505097
RCV000787912
RCV004017782
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital stationary night blindness 1B Likely pathogenic; Pathogenic rs755967391, rs281865186, rs764476239, rs766594761, rs62638214, rs62638624, rs62638202, rs62638197, rs1304183009, rs1426740204 RCV001783403
RCV002273817
RCV001810046
RCV001783402
RCV000006197
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GRM6-related disorder Pathogenic rs281865186, rs752205220 RCV004755771
RCV004756495
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis Pathogenic rs62638214 RCV000787608
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amblyopia Amblyopia Pubtator 22008250 Associate
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism Pubtator 22008250 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 28281572 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 22008250 Associate
★☆☆☆☆
Found in Text Mining only
Blindness Blindness Pubtator 15781871 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 22610075 Associate
★☆☆☆☆
Found in Text Mining only
Cone-rod synaptic disorder, congenital nonprogressive Congenital stationary night blindness CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Congenital stationary night blindness Congenital stationary night blindness Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorder of eye Disorder Of Eye GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Hemeralopia Hemeralopia HPO_DG
★☆☆☆☆
Found in Text Mining only