GRM7
Homo sapiens
Gene Name: Glutamate receptor, metabotropic 7
Aliases: GLUR7, GPRC1G, MGLU7, MGLUR7, PPP1R87
Chromosome No: 3
Chromosome Band: 3p26.1
Genetic Category: Genetic association--Rare single gene variant-Functional
Aliases: GLUR7, GPRC1G, MGLU7, MGLUR7, PPP1R87
Chromosome No: 3
Chromosome Band: 3p26.1
Genetic Category: Genetic association--Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 18
Recent Reports: 0
Annotated variants: 25
Associated CNVs: 9
Evidence score: 2
ASD Reports: 18
Recent Reports: 0
Annotated variants: 25
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
SNPs in GRM7 associated with ASD in a pilot study of Chinese ASD cases (Yang et al., 2013). A de novo exonic deletion in GRM7 was identified in a proband with ASD and hyperactivity; three of the exons within the breakpoint boundaries of this deletion were predicted to be under purifying selection and highly expressed in prenatal brain regions (Liu et al., 2015). A de novo missense variant in GRM7 was also identified in an ASD proband from the Simons Simplex Collection (Sanders et al., 2012).
Molecular Function
This gene encodes for a 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. Variants in this gene have been shown to associate with schizophrenia, ADHD, and bipolar disorder.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Role of metabotropic glutamate receptor 7 in autism spectrum disorders: a pilot study.
ASD
Positive Association
A family-based association study of DNA sequence variants in GRM7 with schizophrenia in an Indonesian population.
SCZ
Positive Association
Association study of polymorphisms in the group III metabotropic glutamate receptor genes, GRM4 and GRM7, with schizophrenia.
SCZ
Positive Association
A polymorphism of the metabotropic glutamate receptor mGluR7 (GRM7) gene is associated with schizophrenia.
SCZ
Positive Association
Glutamate receptor, metabotropic 7 (GRM7) gene variations and susceptibility to autism: A case-control study.
ASD
Positive Association
Allelic association, DNA resequencing and copy number variation at the metabotropic glutamate receptor GRM7 gene locus in bipolar disorder.
BPD
Positive Association
Association between the GRM7 rs3792452 polymorphism and attention deficit hyperacitiveity disorder in a Korean sample.
ADHD
Positive Association
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
ADHD
Negative Association
Lack of association between the GRM7 gene and attention deficit hyperactivity disorder.
ADHD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD, epilepsy/seizures
Support
Overexpression of mGluR7 in the Prefrontal Cortex Attenuates Autistic Behaviors in Mice
ASD
Support
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
ID, epilepsy/seizures, microcephaly
Support
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
DD, epilepsy/seizures
Support
Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN716R003a
missense_variant
c.461T>C
p.Ile154Thr
Familial
Both parents
Multiplex
GEN716R005a
stop_gained
c.1757G>A
p.Trp586Ter
Familial
Both parents
Multiplex
GEN716R006a
missense_variant
c.2671G>A
p.Glu891Lys
Familial
Both parents
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN716C001
intron_variant
rs6782011
c.1376-3623C>T
22 ASD cases, 14 non-ASD cases (ID,DD,ADHD), and 18 controls; Chinese descent
Discovery
GEN716C002
intron_variant
rs779867
c.1175-9823T>C
23 ASD cases, 14 non-ASD cases (ID,DD,ADHD), and 18 controls; Chinese descent
Discovery
GEN716C003
copy_number_loss
Discovery: 1013 European ADHD cases from CHOP, 4105 healthy European controls; Replication: 2493 cases, 9222 controls
Discovery & Replication
GEN716C004
intron_variant
rs3792452
c.2451+45740C>T
148 Korean ADHD trios
Discovery
GEN716C005
intron_variant
rs1508724
c.736+53390G>A
UCL1 cohort: 553 bipolar cases, 547 control samples; Combined cohort: 1146 cases, 1189 controls
Discovery
GEN716C006
intron_variant
rs11710946
c.736+57886C>T
UCL1 cohort: 553 bipolar cases, 547 control samples
Discovery
GEN716C007
intron_variant
rs6769814
c.736+63078A>G
UCL1 cohort: 553 bipolar cases, 547 control samples; Combined cohort: 1146 cases, 1189 controls
Discovery
GEN716C008
3_prime_UTR_variant
rs56173829
c.*401A>T;c.*472A>T
UCL cohort: 1146 cases, 1189 controls
Discovery
GEN716C009
synonymous_variant
rs3749380
c.222C>T
p.(=)
2293 Japanese SCZ cases, 2382 Japanese controls
Discovery
GEN716C010
intron_variant
rs12491620
c.1033+45994C>G
Japanese SCZ cases, Japanese controls
Discovery
GEN716C011
intron_variant
rs1450099
c.1515+34967T>G
Japanese SCZ cases, Japanese controls
Discovery
GEN716C012
intron_variant
rs17031835
c.519+18164C>T
124 Indonesian families comprising 540 individuals (267 individuals affected with SCZ or SCZ-AFF)
Discovery
GEN716C013
intron_variant
rs779867
c.1175-9823T>C
518 Iranian ASD cases and 472 age, gender, and ethnicity-matched control individuals
Replication
