Gene Gene information from NCBI Gene database.
Entrez ID 2917
Gene name Glutamate metabotropic receptor 7
Gene symbol GRM7
Synonyms (NCBI Gene)
GLUR7GPRC1GMGLU7MGLUR7NEDSHBAPPP1R87
Chromosome 3
Chromosome location 3p26.1
Summary L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be pert
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1114167298 T>C Likely-pathogenic Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1114167300 C>T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1114167301 C>A,T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
7
miRTarBase ID miRNA Experiments Reference
MIRT000073 hsa-miR-34a-5p ReviewqRT-PCR 20388499
MIRT000073 hsa-miR-34a-5p ReviewqRT-PCR 20388499
MIRT000073 hsa-miR-34a-5p Reporter assay;Proteomics 21566225
MIRT1035267 hsa-miR-205 CLIP-seq
MIRT1035268 hsa-miR-3124-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0001642 Function Group III metabotropic glutamate receptor activity IBA
GO:0001642 Function Group III metabotropic glutamate receptor activity IDA 9144652, 9473604
GO:0001662 Process Behavioral fear response IMP 17167337
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005509 Function Calcium ion binding IDA 18599484
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604101 4599 ENSG00000196277
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14831
Protein name Metabotropic glutamate receptor 7 (mGluR7)
Protein function G-protein coupled receptor activated by glutamate that regulates axon outgrowth through the MAPK-cAMP-PKA signaling pathway during neuronal development (PubMed:33500274). Ligand binding causes a conformation change that triggers signaling via gu
PDB 3MQ4 , 5C5C , 7EPC , 7EPD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01094 ANF_receptor 77 486 Receptor family ligand binding region Family
PF07562 NCD3G 519 569 Nine Cysteines Domain of family 3 GPCR Family
PF00003 7tm_3 602 847 7 transmembrane sweet-taste receptor of 3 GCPR Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many areas of the brain, especially in the cerebral cortex, hippocampus, and cerebellum. Expression of GRM7 isoforms in non-neuronal tissues appears to be restricted to isoform 3 and isoform 4. {ECO:0000269|PubMed:12052533
Sequence
MVQLRKLLRVLTLMKFPCCVLEVLLCALAAAARGQEMYAPHSIRIEGDVTLGGLFPVHAK
GPSGVPCGDIKRENGIHRLEAMLYALDQINSDPNLLPNVTLGARILDTCSRDTYALEQSL
TFVQALIQKDTSDVRCTNGEPPVFVKPEKVVGVIGASGSSVSIMVANILRLFQIPQISYA
STAPELSDDRRYDFFSRVVPPDSFQAQAMVDIVKALGWNYVSTLASEGSYGEKGVESFTQ
ISKEAGGLCIAQSVRIPQERKDRTIDFDRIIKQLLDTPNSRAVVIFANDEDIKQILAAAK
RADQVGHFLWVGSDSWGSKINPLHQHEDIAEGAITIQPKRATVEGFDAYFTSRTLENNRR
NVWFAEYWEENFNCKLTISGSKKEDTDRKCTGQERIGKDSNYEQEGKVQFVIDAVYAMAH
ALHHMNKDLCADYRGVCPEMEQAGGKKLLKYIRNVNFNGSAGTPVMFNKNGDAPGRYDIF
QYQTTN
TSNPGYRLIGQWTDELQLNIEDMQWGKGVREIPASVCTLPCKPGQRKKTQKGTP
CCWTCEPCDGYQYQFDEMTCQHCPYDQRP
NENRTGCQDIPIIKLEWHSPWAVIPVFLAML
GIIATIFVMATFIRYNDTPIVRASGRELSYVLLTGIFLCYIITFLMIAKPDVAVCSFRRV
FLGLGMCISYAALLTKTNRIYRIFEQGKKSVTAPRLISPTSQLAITSSLISVQLLGVFIW
FGVDPPNIIIDYDEHKTMNPEQARGVLKCDITDLQIICSLGYSILLMVTCTVYAIKTRGV
PENFNEAKPIGFTMYTTCIVWLAFIPIFFGTAQSAEKLYIQTTTLTISMNLSASVALGML
YMPKVYI
IIFHPELNVQKRKRSFKAVVTAATMSSRLSHKPSDRPNGEAKTELCENVDPNS
PAAKKKYVSYNNLVI
Sequence length 915
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.).
38
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
Bilateral multifocal epileptiform discharges Pathogenic rs1697820592 RCV001089898
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain atrophy Pathogenic rs1114167298 RCV000491187
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Pathogenic rs1114167298, rs1697820592 RCV000491187
RCV001089898
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplasia of the corpus callosum Pathogenic rs1114167298 RCV000491187
★★★★☆
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
ATTENTION DEFICIT DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
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
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 29228715
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32694537 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 21368711 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 23295062 Associate
★☆☆☆☆
Found in Text Mining only
ATRIAL SEPTAL DEFECT 1 Atrial Septal Defect BEFREE 31707215
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect BEFREE 31707215
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 32286009, 34273994 Associate
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder Attention Deficit Hyperactivity Disorder CTD_human_DG 22138692
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder Attention Deficit Hyperactivity Disorder BEFREE 31170425
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 22138692, 23295062, 37964012 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations