CNR2
Homo sapiens
Gene Name: Cannabinoid receptor 2 (macrophage)
Aliases: RP11-4M23.1, CB-2, CB2, CX5
Chromosome No: 1
Chromosome Band: 1p36.11
Genetic Category: Genetic association-Functional-Rare single gene variant
Aliases: RP11-4M23.1, CB-2, CB2, CX5
Chromosome No: 1
Chromosome Band: 1p36.11
Genetic Category: Genetic association-Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 1
Evidence score: 0
ASD Reports: 7
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 1
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
mRNA and protein levels for CNR2 were significantly elevated in PMBCs from autistic children compared to those from age-matched normal healthy developing controls (Siniscalco et al., 2013).
Molecular Function
Heterotrimeric G protein-coupled receptor for endocannabinoid 2-arachidonoylglycerol mediating inhibition of adenylate cyclase. May function in inflammatory response, nociceptive transmission and bone homeostasis. Genetic association has been found between SNPs within the CNR2 gene and neuropsychiatric disorders such as schizophrenia (Ishiguro et al., 2010) and bipolar disorder (Minocci et al., 2011).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Cannabinoid receptor type 2, but not type 1, is up-regulated in peripheral blood mononuclear cells of children affected by autistic disorders.
ASD
Positive Association
Genetic association between bipolar disorder and 524A>C (Leu133Ile) polymorphism of CNR2 gene, encoding for CB2 cannabinoid receptor.
BPD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN537R002
frameshift_variant
c.1081del
p.Ter361AspfsTer50
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN537C001
missense_variant
rs2501432
c.188A>G
p.Arg63Gln
1920 Japanese patients with schizophrenia & 1920 Japanese control subjects (combined discovery and replication populations)
Discovery & Replication
GEN537C002
intergenic_variant
rs12744386
C/T
1920 patients with schizophrenia & 1920 control subjects (combined discovery and replication populations)
Discovery & Replication
GEN537C003
missense_variant
rs41311993
c.397C>A
p.Leu133Ile
80 bipolar disorder patients, 160 healthy subjects.
Discovery