CNR1
Homo sapiens
Gene Name: cannabinoid receptor 1 (brain)
Aliases: CB1, CNR, CB-R, CB1A, CANN6, CB1K5
Chromosome No: 6
Chromosome Band: 6q15
Genetic Category: Genetic Association-Rare single gene variant
Aliases: CB1, CNR, CB-R, CB1A, CANN6, CB1K5
Chromosome No: 6
Chromosome Band: 6q15
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 2
Annotated variants: 34
Associated CNVs: 7
Evidence score: 2
ASD Reports: 8
Recent Reports: 2
Annotated variants: 34
Associated CNVs: 7
Evidence score: 2
Gene Score: 3
Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the CNR1 gene and striatal response to happy faces in a Caucasian cohort (Chakrabarti et al., 2006).
Molecular Function
The encoded protein has cannabinoid receptor activity.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Variations in the human cannabinoid receptor (CNR1) gene modulate striatal responses to happy faces.
striatal responses to happy faces
ASD
Support
Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Highly Cited
Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB1 receptor knockout mice.
Highly Cited
Presynaptically located CB1 cannabinoid receptors regulate GABA release from axon terminals of specific hippocampal interneurons.
Recent Recommendation
Experimental febrile seizures are precipitated by a hyperthermia-induced respiratory alkalosis.
Recent Recommendation
Cannabinoid receptor type 1 located on presynaptic terminals of principal neurons in the forebrain controls glutamatergic synaptic transmission.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN049C001
synonymous_variant
rs1049353
c.1359G>A;c.1260G>A;c.1176G>A
p.(=)
Caucasian
Discovery
GEN049C002
intron_variant, 2KB_upstream_variant
rs806377
c.-206-1198A>G;c.-63-3667A>G;c.-1452A>G;c.-79-3667A>G
N/A
Caucasian
Discovery
GEN049C003
intron_variant
rs806380
c.-206-7128T>C;c.-63-9597T>C;c.-64+8023T>C;c.-79-9597T>C
Caucasian
Discovery
GEN049C004
intron_variant
rs6454674
c.-207+2592A>C;c.-207+1046A>C;c.-64+2536A>C;c.-64+2592A>C;c.-318A>C;c.-80+2592A>C;c.-64+3365A>C
Caucasian
Discovery